Congenital Adrenal Hyperplasia - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

CONGENITAL ADRENAL HYPERPLASIA A M EDICAL D ICTIONARY , B IBLIOGRAPHY , AND A NNOTATED R ESEARCH G UIDE TO I NTERNET R E...

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CONGENITAL ADRENAL HYPERPLASIA A M EDICAL D ICTIONARY , B IBLIOGRAPHY , AND A NNOTATED R ESEARCH G UIDE TO I NTERNET R E FERENCES

J AMES N. P ARKER , M.D. AND P HILIP M. P ARKER , P H .D., E DITORS

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ICON Health Publications ICON Group International, Inc. 4370 La Jolla Village Drive, 4th Floor San Diego, CA 92122 USA Copyright ©2004 by ICON Group International, Inc. Copyright ©2004 by ICON Group International, Inc. All rights reserved. This book is protected by copyright. No part of it may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, recording, or otherwise, without written permission from the publisher. Printed in the United States of America. Last digit indicates print number: 10 9 8 7 6 4 5 3 2 1

Publisher, Health Care: Philip Parker, Ph.D. Editor(s): James Parker, M.D., Philip Parker, Ph.D. Publisher's note: The ideas, procedures, and suggestions contained in this book are not intended for the diagnosis or treatment of a health problem. As new medical or scientific information becomes available from academic and clinical research, recommended treatments and drug therapies may undergo changes. The authors, editors, and publisher have attempted to make the information in this book up to date and accurate in accord with accepted standards at the time of publication. The authors, editors, and publisher are not responsible for errors or omissions or for consequences from application of the book, and make no warranty, expressed or implied, in regard to the contents of this book. Any practice described in this book should be applied by the reader in accordance with professional standards of care used in regard to the unique circumstances that may apply in each situation. The reader is advised to always check product information (package inserts) for changes and new information regarding dosage and contraindications before prescribing any drug or pharmacological product. Caution is especially urged when using new or infrequently ordered drugs, herbal remedies, vitamins and supplements, alternative therapies, complementary therapies and medicines, and integrative medical treatments. Cataloging-in-Publication Data Parker, James N., 1961Parker, Philip M., 1960Congenital Adrenal Hyperplasia: A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References / James N. Parker and Philip M. Parker, editors p. cm. Includes bibliographical references, glossary, and index. ISBN: 0-497-00293-0 1. Congenital Adrenal Hyperplasia-Popular works. I. Title.

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Disclaimer This publication is not intended to be used for the diagnosis or treatment of a health problem. It is sold with the understanding that the publisher, editors, and authors are not engaging in the rendering of medical, psychological, financial, legal, or other professional services. References to any entity, product, service, or source of information that may be contained in this publication should not be considered an endorsement, either direct or implied, by the publisher, editors, or authors. ICON Group International, Inc., the editors, and the authors are not responsible for the content of any Web pages or publications referenced in this publication.

Copyright Notice If a physician wishes to copy limited passages from this book for patient use, this right is automatically granted without written permission from ICON Group International, Inc. (ICON Group). However, all of ICON Group publications have copyrights. With exception to the above, copying our publications in whole or in part, for whatever reason, is a violation of copyright laws and can lead to penalties and fines. Should you want to copy tables, graphs, or other materials, please contact us to request permission (E-mail: [email protected]). ICON Group often grants permission for very limited reproduction of our publications for internal use, press releases, and academic research. Such reproduction requires confirmed permission from ICON Group International, Inc. The disclaimer above must accompany all reproductions, in whole or in part, of this book.

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Acknowledgements The collective knowledge generated from academic and applied research summarized in various references has been critical in the creation of this book which is best viewed as a comprehensive compilation and collection of information prepared by various official agencies which produce publications on congenital adrenal hyperplasia. Books in this series draw from various agencies and institutions associated with the United States Department of Health and Human Services, and in particular, the Office of the Secretary of Health and Human Services (OS), the Administration for Children and Families (ACF), the Administration on Aging (AOA), the Agency for Healthcare Research and Quality (AHRQ), the Agency for Toxic Substances and Disease Registry (ATSDR), the Centers for Disease Control and Prevention (CDC), the Food and Drug Administration (FDA), the Healthcare Financing Administration (HCFA), the Health Resources and Services Administration (HRSA), the Indian Health Service (IHS), the institutions of the National Institutes of Health (NIH), the Program Support Center (PSC), and the Substance Abuse and Mental Health Services Administration (SAMHSA). In addition to these sources, information gathered from the National Library of Medicine, the United States Patent Office, the European Union, and their related organizations has been invaluable in the creation of this book. Some of the work represented was financially supported by the Research and Development Committee at INSEAD. This support is gratefully acknowledged. Finally, special thanks are owed to Tiffany Freeman for her excellent editorial support.

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About the Editors James N. Parker, M.D. Dr. James N. Parker received his Bachelor of Science degree in Psychobiology from the University of California, Riverside and his M.D. from the University of California, San Diego. In addition to authoring numerous research publications, he has lectured at various academic institutions. Dr. Parker is the medical editor for health books by ICON Health Publications. Philip M. Parker, Ph.D. Philip M. Parker is the Eli Lilly Chair Professor of Innovation, Business and Society at INSEAD (Fontainebleau, France and Singapore). Dr. Parker has also been Professor at the University of California, San Diego and has taught courses at Harvard University, the Hong Kong University of Science and Technology, the Massachusetts Institute of Technology, Stanford University, and UCLA. Dr. Parker is the associate editor for ICON Health Publications.

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About ICON Health Publications To discover more about ICON Health Publications, simply check with your preferred online booksellers, including Barnes&Noble.com and Amazon.com which currently carry all of our titles. Or, feel free to contact us directly for bulk purchases or institutional discounts: ICON Group International, Inc. 4370 La Jolla Village Drive, Fourth Floor San Diego, CA 92122 USA Fax: 858-546-4341 Web site: www.icongrouponline.com/health

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Table of Contents FORWARD .......................................................................................................................................... 1 CHAPTER 1. STUDIES ON CONGENITAL ADRENAL HYPERPLASIA ................................................... 3 Overview........................................................................................................................................ 3 Federally Funded Research on Congenital Adrenal Hyperplasia .................................................. 3 E-Journals: PubMed Central ....................................................................................................... 15 The National Library of Medicine: PubMed ................................................................................ 16 CHAPTER 2. NUTRITION AND CONGENITAL ADRENAL HYPERPLASIA ......................................... 63 Overview...................................................................................................................................... 63 Finding Nutrition Studies on Congenital Adrenal Hyperplasia ................................................. 63 Federal Resources on Nutrition ................................................................................................... 66 Additional Web Resources ........................................................................................................... 66 CHAPTER 3. ALTERNATIVE MEDICINE AND CONGENITAL ADRENAL HYPERPLASIA ................... 67 Overview...................................................................................................................................... 67 National Center for Complementary and Alternative Medicine.................................................. 67 Additional Web Resources ........................................................................................................... 69 General References ....................................................................................................................... 69 CHAPTER 4. PATENTS ON CONGENITAL ADRENAL HYPERPLASIA................................................ 71 Overview...................................................................................................................................... 71 Patents on Congenital Adrenal Hyperplasia ............................................................................... 71 Patent Applications on Congenital Adrenal Hyperplasia............................................................ 72 Keeping Current .......................................................................................................................... 73 APPENDIX A. PHYSICIAN RESOURCES ............................................................................................ 77 Overview...................................................................................................................................... 77 NIH Guidelines............................................................................................................................ 77 NIH Databases............................................................................................................................. 79 Other Commercial Databases....................................................................................................... 81 APPENDIX B. PATIENT RESOURCES ................................................................................................. 83 Overview...................................................................................................................................... 83 Patient Guideline Sources............................................................................................................ 83 Associations and Congenital Adrenal Hyperplasia ..................................................................... 85 Finding Associations.................................................................................................................... 86 APPENDIX C. FINDING MEDICAL LIBRARIES .................................................................................. 89 Overview...................................................................................................................................... 89 Preparation................................................................................................................................... 89 Finding a Local Medical Library.................................................................................................. 89 Medical Libraries in the U.S. and Canada ................................................................................... 89 ONLINE GLOSSARIES.................................................................................................................. 95 Online Dictionary Directories ..................................................................................................... 97 CONGENITAL ADRENAL HYPERPLASIA DICTIONARY .................................................. 99 INDEX .............................................................................................................................................. 135

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FORWARD In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading."1 Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with congenital adrenal hyperplasia is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to know as much as possible about congenital adrenal hyperplasia, using the most advanced research tools available and spending the least amount of time doing so. In addition to offering a structured and comprehensive bibliography, the pages that follow will tell you where and how to find reliable information covering virtually all topics related to congenital adrenal hyperplasia, from the essentials to the most advanced areas of research. Public, academic, government, and peer-reviewed research studies are emphasized. Various abstracts are reproduced to give you some of the latest official information available to date on congenital adrenal hyperplasia. Abundant guidance is given on how to obtain free-of-charge primary research results via the Internet. While this book focuses on the field of medicine, when some sources provide access to non-medical information relating to congenital adrenal hyperplasia, these are noted in the text. E-book and electronic versions of this book are fully interactive with each of the Internet sites mentioned (clicking on a hyperlink automatically opens your browser to the site indicated). If you are using the hard copy version of this book, you can access a cited Web site by typing the provided Web address directly into your Internet browser. You may find it useful to refer to synonyms or related terms when accessing these Internet databases. NOTE: At the time of publication, the Web addresses were functional. However, some links may fail due to URL address changes, which is a common occurrence on the Internet. For readers unfamiliar with the Internet, detailed instructions are offered on how to access electronic resources. For readers unfamiliar with medical terminology, a comprehensive glossary is provided. For readers without access to Internet resources, a directory of medical libraries, that have or can locate references cited here, is given. We hope these resources will prove useful to the widest possible audience seeking information on congenital adrenal hyperplasia. The Editors

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From the NIH, National Cancer Institute (NCI): http://www.cancer.gov/cancerinfo/ten-things-to-know.

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CHAPTER

1.

STUDIES ON HYPERPLASIA

CONGENITAL

ADRENAL

Overview In this chapter, we will show you how to locate peer-reviewed references and studies on congenital adrenal hyperplasia.

Federally Funded Research on Congenital Adrenal Hyperplasia The U.S. Government supports a variety of research studies relating to congenital adrenal hyperplasia. These studies are tracked by the Office of Extramural Research at the National Institutes of Health.2 CRISP (Computerized Retrieval of Information on Scientific Projects) is a searchable database of federally funded biomedical research projects conducted at universities, hospitals, and other institutions. Search the CRISP Web site at http://crisp.cit.nih.gov/crisp/crisp_query.generate_screen. You will have the option to perform targeted searches by various criteria, including geography, date, and topics related to congenital adrenal hyperplasia. For most of the studies, the agencies reporting into CRISP provide summaries or abstracts. As opposed to clinical trial research using patients, many federally funded studies use animals or simulated models to explore congenital adrenal hyperplasia. The following is typical of the type of information found when searching the CRISP database for congenital adrenal hyperplasia: •

Project Title: ANDROGEN METABOLISM IN CHILDHOOD Principal Investigator & Institution: New, Maria I.; Professor; Pediatrics; Weill Medical College of Cornell Univ New York, Ny 10021 Timing: Fiscal Year 2003; Project Start 01-JUN-1977; Project End 30-JUN-2007

2 Healthcare projects are funded by the National Institutes of Health (NIH), Substance Abuse and Mental Health Services (SAMHSA), Health Resources and Services Administration (HRSA), Food and Drug Administration (FDA), Centers for Disease Control and Prevention (CDCP), Agency for Healthcare Research and Quality (AHRQ), and Office of Assistant Secretary of Health (OASH).

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Congenital Adrenal Hyperplasia

Summary: This is a revised submission of a grant in its 32nd year of funding. The primary emphasis is on the correlation of genotype of phenotype combining molecular and clinical studies. Two monogenic defects will be studied: 21-hydroxylase deficiency, which results in the disease Congenital Adrenal Hyperplasia (CAR), and 11beta-HSD2 deficiency, which is the cause of the disease Apparent Mineralocorticoid Excess (AME). We have recruited a medical informatics specialist who has established a database describing the longitudinal data of patients with CAH followed by Dr. New for over 30 years. The database includes extensive clinical and molecular genetics studies of 357 patients with CAR and will be analyzed to determine the final outcome of patients treated with glucocorticoid. The long term effects of prenatal treatment of CAH with dexamethasone on cognition and behavior will be studied. We have discovered a new mild form of AME in a consanguineous Mennonite family and have an opportunity to investigate whether others in their 2,000- member congregation have mutations in the 11HSDB2 gene similar to our patient. We will also study the effect of mineralocorticoids and glucocorti-coids on collagen synthesis in vivo and in vitro in 11beta- HSD2 deficiency. Overall, we propose to continue the investigation of steroid disorders with our newly constituted team consisting of Drs. New, Wilson, Obeid, Hanauske-Abel, Newfield, and Meyer-Bahlburg. Our recent progress attests that this team is capable of advancing the work started 33 years ago. The strengths of our group are: 1) The rich source of patients referred to our division for diagnosis of steroid disorders and hypertension. 2) We are the only group in the U.S.A. routinely carrying out prenatal diagnosis and treatment of CAR and thus have accumulated a large population of prenatally-treated infants to- study. 3) As Dr. New has remained at NYH-CMC since 1955, patients with steroid disorders from birth to adulthood are followed. Rarely has a group of patients been so carefully documented continuously with clinical, hormonal, and molecular genetics data. 4) Dr. Wilson brings special expertise in molecular genetics and works compatibly with the clinical teams. 5) Dr. Ranauske-Abel adds a new dimension, with the investigation of pro-and antifibrotic effects of steroid hormones in patients and in cultured human cells. 6) The harmonious interaction of molecular geneticists, biochemists, psychoendocrinologists, and clinicians with great experience in dealing with patients. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: AROMATASE HYPERPLASIA

INHIBITOR

IN

MALES

WITH

ADRENAL

Principal Investigator & Institution: Sarafoglou, Kyriakie; Pediatrics; Weill Medical College of Cornell Univ New York, Ny 10021 Timing: Fiscal Year 2004; Project Start 01-APR-2004; Project End 31-MAR-2006 Summary: (provided by applicant): Our objective is to treat males who have congenital adrenal hyperplasia (CAH) and decreased spermatogenesis with an aromatase inhibitor in order to investigate its effects on hormonal parameters and spermatogenesis. CAH is a family of inherited disorders caused by reduced activity of the enzyme required for cortisol synthesis. Decreased cortisol production increases the secretion of ACTH from the pituitary and increases the production of adrenal androgens through negative feedback. In turn, the increased levels of adrenal androgens are aromatized/converted in glandular (i.e., testes) and extraglandular tissues by the aromatase enzyme and result in elevated estrogen levels. Ideally, the production of adrenal androgens is normalized in CAH patients by glucocorticoid replacement therapy. However, even well controlled CAH patients still manifest the adverse effects (compromised final height, polycystic ovarian disease, male infertility, etc.) of elevated androgens/estrogens. Glucocorticoid

Studies

5

therapy does not continually normalize ACTH levels because it lacks the close temporal relationship to ACTH pulses and any adrenal activity will result in greater than normal androgen (and thus estrogen) production. We hypothesize that these elevated estrogen levels affect spermatogenesis in males with CAH through the following mechanisms: (1) Elevated estrogens suppress the hypothalamic-pituitary-gonadal axis through negative feedback. Normal LH/FSH gonadotropin secretion is essential for the initiation and maintenance of testicular function and normal spermatogenesis. Chronically elevated estrogen levels (estradiol) affect testicular morphology and testicular steroidogenesis (a) by suppressing pituitary-gonadal secretion, and (b) by a direct toxic effect of estradiol on testicular tissue resulting in a decrease in testicular testosterone production, decrease number of androgen receptors, and create a further negative imbalance in the testosterone-to-estradiol ratio at the gonadal level; (2) Elevated estrogens adversely affect testicular function including Leydig cell, Sertoli cell and germ cell development as shown in experiments with rodents that have been exposed to excess estrogens; (3) Elevated estrogens cause dysfunction of the efferent ductules and epididymis. Therefore, the overarching question of our study is the following: What degree of positive effect will controlling the conversion/aromatization of elevated adrenal androgens into estrogens by gonadal tissue have on spermatogenesis in CAH males? We propose that inhibiting aromatization of androgens to estrogens with an aromatase inhibitor, will improve testicular function and spermatogenesis by normalizing the estradiol to testosterone ratio at the gonadal level and reversing the negative effects of elevated estrogen on androgen receptors, testicular steroidogenesis and pituitary gonadotropins. Aromatase inhibitors have selective action, are well tolerated by patients, and do not interfere with the production of steroid hormones by other related cytochrome P450-dependent enzymes making it ideal for use in CAH patients. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: CAH: CALCIUM CHANNELS AS THERAPEUTIC TARGETS Principal Investigator & Institution: Loechner, Karen J.; Pediatrics; University of North Carolina Chapel Hill Aob 104 Airport Drive Cb#1350 Chapel Hill, Nc 27599 Timing: Fiscal Year 2004; Project Start 01-FEB-2004; Project End 31-JAN-2009 Summary: (provided by applicant): This K08 application under the co-mentorship of Drs. Bob Rosenberg and Gerry Oxford has two goals: 1) to understand the cellular mechanisms that underlie coupling of voltage-activated calcium channels to regulated peptide secretion in the anterior pituitary, and 2) to assess the clinical impact of targeted calcium channel blockade in Congenital Adrenal Hyperplasia (CAH), a disorder resulting from pituitary hypersecretion. In studies of a pituitary corticotroph cell line (AtT-20) I identified three distinct high voltage-activated calcium channels that are expressed in similar abundance. Despite this, only the L-type [dihydropyridine (DHP)sensitive] channel is capable of triggering calcium-dependent secretion of ACTH. The primary focus of this proposal, therefore, is to examine the mechanisms that underlie the coupling of DHP-sensitive channels to ACTH release. I hypothesize that differential localization of the L-type channels accounts for the distinct function of the neurosecretory apparatus in ACTH-secreting cells. I propose to: a) examine the cellular sites of calcium channels and synaptic components using immunocytochemistry/ confocal microscopy, and b) disrupt coupling using a dominant-negative approach. In CAH, the most common adrenal disorder in children, a molecular defect in cortisol production removes normal negative feedback to the anterior pituitary and results in elevated ACTH secretion. Elevated ACTH further increases cortisol precursors, and shunts these steroid intermediates to androgen synthetic pathways. The clinical stigmata

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(e.g., ambiguous genitalia, virilization and short stature in adults) are due to the excess in androgens. Treatment requires life-long glucocorticoid replacement to restore the normal feedback mechanism. Determining the "optimal level" ofglucocorticoid replacement, however, is difficult: under-treatment leads to adrenal insufficiency and androgen excess; over-treatment leads to glucocorticoid excess (e.g., obesity, glucose intolerance and osteopenia). My work with the pituitary cells in culture suggests that selective pharmacologic blockade of L-type (DHP-sensitive) channels, and, in turn, attenuation of ACTH release, will provide a novel adjunct therapy by allowing lower glucocorticoid dosing. This would result in enhanced linear growth and improved bone mineral density. These basic research and clinical studies complement one another, and together, they should enhance our understanding of the cellular mechanisms underlying peptide secretion. Furthermore, they may allow for improved treatment in hypersecretory conditions, such as CAH. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: COMPREHENSIVE CYP21 GENOTYPING Principal Investigator & Institution: Naylor, Edwin W.; Neo Gen Screening, Inc. Box 219, Abele Business Park Bridgeville, Pa 15017 Timing: Fiscal Year 2002; Project Start 15-SEP-2000; Project End 31-MAR-2004 Summary: Virilizing congenital adrenal hyperplasia (CAH) describes a group of disorders of steroidogenesis involving the pathway from cholesterol to cortisol. Ninetyfive percent of CAH results from alteration of the CYP21 gene. The salt wasting form of CAH may be fatal in the neonatal period while non-classical forms cause health problems late in life. Screening for CAH involves measuring 17-hydroxyprogesterone. In screening for CAH, cut-off levels for 17-OHP are held so high that many treatable forms of CAH are not detected. These cases of CAH would be identified if cut-off levels were lowered and a molecular assay for CYP21 mutations was performed. Molecular analysis eliminates false positives while identifying affected individuals. Rapid cycle PCR with analysis of fluorescence resonance energy transfer (FRET) probes is an innovative approach to mutation and gene dosage analysis. Rapid cycle PCR and FRET analysis will be used to detect CYP21 mutations I172N, I2, and 8 bp del 706-713 plus deletion/duplication events. Comprehensive CYP21 analysis is performed using Peptide Mass-Signature Genotyping (PSMG). PSMG involves expression of amplification products, mass determination of expression peptides by MALDI-TOF, and computational deconvolution of mass data to determine genetic changes. CYP21 exon 8 is the model system. The model systems for mutational, gene dosage, and PSMG analysis will demonstrate feasibility of a CYP21 genotyping service. PROPOSED COMMERCIAL APPLICATIONS: Rapid CYP21 dosage and mutation analysis allows for an improved CAH screening program. This service will be used in-house and offered to other screening programs, pediatricians, and pediatric endocrinologists. CYP21 genotyping will find a large market to endocrinologists seeing patients with the often enigmatic mild 17-OHP elevations and putative late-onset non-classical forms of CAH which are common in the general population. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

•

Project Title: DNA-BASED ARRAYS OF CROSS-REACTIVE MOLECULAR SENSORS Principal Investigator & Institution: Stojanovic, Milan N.; Medicine; Columbia University Health Sciences Po Box 49 New York, Ny 10032

Studies

7

Timing: Fiscal Year 2003; Project Start 30-SEP-2002; Project End 31-AUG-2005 Summary: (provided by applicant): The mammalian olfactory system is composed of 1000 different receptors on over 1000 cells each, and although individual receptors may be only modestly sensitive and selective, in the aggregate they are capable of fine differentiation of trace odorants through parallel molecular recognition events The interplay between multiple copies of the same receptor and parallel processing of crossreacting receptors is an area of current interest. Artificial sensors susceptible to facile variations of the binding site would permit investigation of parallel recognition as a strategy for analyte identification. Our recent discovery of oligonucleotides with a hydrophobic variable domain within the fixed frameworks of three- and four-way junctions allows construction of the several thousand distinct molecular sensors needed for such an investigation. Therefore, an array of cross-reacting hydrophobic sensors based on DNA will be constructed to model the olfactory system. The array will provide an instantaneous fingerprint of all molecules with hydrophobic domains present in a solution A typical array at the end of funding period will consist of one to several hundred selected molecular sensors organized in 1586-well plates with multiple readings per sensor. The arrays will be validated on urine specimens collected for metabolite screening. The hydrophobic fingerprints will be correlated with disease states. This approach will be initially demonstrated on Cushing's disease, adrenal adenoma, adrenal carcinoma, hirsutism and congenital adrenal hyperplasia. In the next phase, DNA-based cross-reactive sensors for oligosaccharides will be incorporated into arrays to expand the panel of metabolites that could be profiled in a single-step assay. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: EFFECTS OF ANDROGENS ON OVARIAN STRUCTURE AND FUNCTION Principal Investigator & Institution: Place, Ned J.; Psychology; University of California Berkeley Berkeley, Ca 947205940 Timing: Fiscal Year 2002; Project Start 01-MAR-2002 Summary: Effects of androgens on female sexual differentiation are often considered within a pathological context (e.g. ambiguous genitalia resulting from congenital adrenal hyperplasia), but in the spotted hyena a high androgen milieu during fetal development and sexual differentiation represents normal physiology, not pathology. Thus, the spotted hyena represents a unique system in which to study the effects of antenatal androgens on sexual differentiation. High androgen exposure in utero masculinizes female external genitalia to the extreme in spotted hyenas, but the effects of androgens on ovarian differentiation are not well studied. Specifically, androgens appear to increase the rate of follicular atresia in the developing ovary, which may explain the abundance of ovarian interstitial tissue and relative paucity of follicles in spotted hyenas. In the proposed research I will study a group of female hyenas that were previously exposed to anti-androgens while in utero. These females are now adults and the structure and function of their ovaries will be compared to that of untreated controls. The steroidogenic responsiveness of the ovaries to a gonadotropin challenge test will be assessed in vivo, as well as in vitro (after unilateral oophorectomy). Following oophorectomy, follicle number and steroidogenic enzyme activity will be measured, and steroid receptor levels will be quantified by immunocytochemistry. This research will improve our understanding of how prenatal exposure to androgens affects ovarian structure and function. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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•


Project Title: ETIOLOGY, HORMONAL CRITERIA OF 3 BETA HSD DEFICIENCY Principal Investigator & Institution: Pang, Songya; Professor; Pediatrics; University of Illinois at Chicago 1737 West Polk Street Chicago, Il 60612 Timing: Fiscal Year 2002; Project Start 01-JUN-1998; Project End 30-NOV-2004 Summary: (adapted from the applicants abstract) The clinical spectrum of 3bhydroxysteroid dehydrogenase (3b-HSD) deficiency (def) congenital adrenal hyperplasia (CAH) ranges from the severe form manifesting ambiguous genitalia, saltwasting, and hypogonadism to the less severe form manifesting premature pubarche (PP), pubertal onset hirsutism and menstrual disorder. Three hypotheses are advanced in this proposal: 1) Hormonal diagnosis (Dx) for the mild late-onset variant of 3b-HSD def, mild or severe, may reveal hormonal criteria which differ from the past published criteria for diagnosing the late-onset disorder; 2) Study of adrenal (Ad) 3b-HSD activity in carriers for 3b-HSD def may support or exclude the existence of an Ad 3b-HSD isoenzyme; and 3) The hormonal features of mildly decreased Ad 3b-HSD activity, leading to late-onset disorder in the past, may be associated with the insulin resistance of polycystic ovary syndrome (PCOS). We propose 5 specific aims: 1) the hormonal criteria via genotypic proof for mild to severe 3b-HSD def by a) analysis of the type II 3b-HSD gene encoding Ad and gonadal 3b-HSD in patients with various clinical/hormonal spectra of decreased Ad 3b-HSD activity; b) characterizing the mutant gene function in vitro, and c) correlating the genotype to hormonal/clinical phenotype of mild and severe variants of 3b-HSD def; 2) Ad 3b-HSD activity in the carriers of 3b-HSD def by a) identifying hormonal profiles in family members of patients with the 3b-HSD gene mutations b) comparing Ad hormonal profiles in carriers to the genotype; 3) prenatal diagnosis of 3b-HSD CAH in fetuses at risk by a) type II 3b-HSD gene analysis from amniotic and the proband's cells, b) hormonal analysis of amniotic fluid, c) fetal outcome verification; 4) association between the hormonal marker of mildly decreased Ad 3b-HSD activity and the insulin resistance of PCOS by examining A0 insulin sensitivity (SI) in the patients and control subjects, b) comparing SI to the Ad/ovarian components of androgen secretion; 5) long term outcome by periodic examinations of growth, maturation of H-P-O axis sensitivity and Ad 3b-HSD activity hormonally in girls with PP and the hormonal marker of mildly decreased Ad 3b-HSD activity. The proposed study will help to define the hormonal criteria essential to accurately diagnose patients with variants of 3b-HSD def CAH, examine the potential existence of an Ad 3b-HSD isoenzyme, verify accuracy of prenatal Dx of 3b-HSD def, and determine whether the hormonal features of mildly decreased Ad 3b-HSD activity are associated with insulin resistance and are a marker of PCOS from childhood to adulthood. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

•

Project Title: FEMALE PHYSIOLOGY

SEXUAL

AROUSAL:

CLITORAL

AND

VAGINAL

Principal Investigator & Institution: Traish, Abdulmaged M.; Professor; Urology; Boston University Medical Campus 715 Albany St, 560 Boston, Ma 02118 Timing: Fiscal Year 2003; Project Start 15-SEP-2000; Project End 30-JUN-2005 Summary: (Adapted from the Applicant's Abstract): Female sexuality is an desire, arousal, orgasm or pain, are estimated to afflict 30-50 percent of women in the United States. These disorders may be chronic, progressive, age-related and adversely affect quality of life and interpersonal relationships. In particular, sexual arousal disorder, has been linked to age, menopause, hysterectomy and vascular risk factors. Overall clinical

Studies

9

management of afflicted patients has been primarily psychologically and hormonallybased. There has been limited research attention to the physiologically or medicallybased conditions which adversely affect the female sexual arousal response. Recently, increasing numbers of afflicted women are utilizing "off-label" oral vasoactive agents for treatment of diminished genital swelling/lubrication responses in the absence of such physiologic and clinical trial data, suggesting demand for improved female sexual health care management. There is a need to broaden understanding of the pathophysiologic mechanisms of female sexual dysfunction. The overall goal of this proposal is to define the physiological mechanisms underlying the arousal component of the female sexual response. Specifically, they will investigate the physiologic mechanisms of clitoral and vaginal smooth muscle contractility which contribute to clitoral and vaginal engorgement during genital swelling/lubrication responses. To accomplish this goal, they have developed several experimental systems including: I) an in vivo animal model to record physiologic and hemodynamic changes in the clitoris and vagina following pelvic nerve stimulation, ii) in vitro organ baths of clitoral and vaginal tissue to investigate mechanisms involved in the modulation of smooth muscle contractility and iii) primary cultures of human and animal clitoral and vaginal smooth muscle cells to examine signal transduction pathways underlying smooth muscle tone. The Specific Aims of this proposal are to investigate: 1) neurogenic mechanisms modulating clitoral and vaginal smooth muscle contractility, 2) signal transduction pathways by which alpha-adrenergic receptors, nitric oxide and VIP modulate smooth muscle function, 3) the activity, in vivo, of alpha-adrenergic antagonists, VIP and nitric oxide on clitoral and vaginal hemodynamic response to pelvic nerve stimulation and 4) the role of estrogens in modulating vaginal and clitoral smooth muscle function. These studies should lead to new and useful information concerning physiological and pathophysiological mechanisms in female sexual arousal and to potentially improve diagnostic and treatment strategies for women suffering from sexual dysfunction. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: FETO-MATERNAL APPLICATIONS

DNA/RNA

TRAFFICKING:BIOLOGY

&

Principal Investigator & Institution: Bianchi, Diana W.; Professor & Chief; New England Medical Center Hospitals 750 Washington St Boston, Ma 021111533 Timing: Fiscal Year 2004; Project Start 01-DEC-2003; Project End 30-NOV-2008 Summary: (provided by applicant): The overall goal of the proposed project is to understand the biology of feto-maternal cell-free DNA and RNA trafficking, and to use the knowledge gained to develop novel prenatal diagnostic applications. The overall hypothesis to be tested is that cell-free fetal DNA and mRNA in the maternal circulation and amniotic fluid originates from specific fetal tissue sources and contains unique fetal gene sequences that can be used for prenatal diagnosis of genetic and developmental disorders. Evidence thus far indicates that significant amounts of cell-free DNA, and to a lesser degree, RNA, circulate within the serum and plasma of pregnant women. These nucleic acids have a short half-life and are cleared within hours of delivery of the fetus or newborn. There is also a significant amount of cell-free fetal DNA and RNA present in the amniotic fluid. Currently, little is known about the tissue of origin of these nucleic acid sequences and how they are produced. Specific aim 1 of the project is to use cellfree fetal DNA in maternal plasma, archived serum samples, and amniotic fluid supernatants as sources of clinical material to develop new clinical tests that could improve existing noninvasive assays to determine the risk of fetal aneuploidy or single gene disorders such as congenital adrenal hyperplasia (CAH). To date clinical

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applications have focused on detection and quantitation of uniquely fetal sequences as an indication of pregnancy complications. A major limitation has been that many of these analyses have been limited to male fetuses, which carry a Y chromosome. Thus, specific aim 2 is to use uniquely fetal mRNA gene sequences for the identification and quantitation of fetal nucleic acids in maternal plasma, independent of fetal gender. We will examine if increased or decreased gene expression, as measured by circulating mRNA sequences in maternal blood, can be used to noninvasively detect fetal aneuploidy or other complications of pregnancy. In aim 3 we will determine the tissue of origin of the circulating nucleic acids by amplifying specific genes of hematopoietic, placental, and fetal origin. We will also use cell-free mRNA present in amniotic fluid to examine gene expression via microarrays. We will examine differences between fetuses due to gestational age and different pathologies. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: FINGERSTICK 17 OH PROGESTERONE MONITORING OF CONGENITAL ADRENAL HYPERPLASIA Principal Investigator & Institution: Repaske, David R.; Children's Hospital Med Ctr (Cincinnati) 3333 Burnet Ave Cincinnati, Oh 452293039 Timing: Fiscal Year 2003 Summary: This abstract is not available. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

•

Project Title: HORMONAL INFLUENCES ON HUMAN SEXUALLY-DIMORPHIC BEHAVIOR Principal Investigator & Institution: Berenbaum, Sheri A.; Professor; Psychology; Pennsylvania State University-Univ Park 110 Technology Center University Park, Pa 16802 Timing: Fiscal Year 2002; Project Start 01-APR-1985; Project End 30-JUN-2005 Summary: This is a continuation of a systematic study of the behavioral effects of early exposure to excess androgens in individuals with congenital adrenal hyperplasia (CAH). Previous results suggest that early androgens do affect aspects of sex-typed behavior, and it is appropriate to study in detail the nature and extent of these effects. The purpose of the proposed project is to examine: (a) behaviors that have been understudied with respect to effects of early hormones, including those that are more common or higher in females than in males; (b) the relation between hormonally-influenced childhood play behavior and adolescent/young adult cognitive abilities and sexual orientation; (c) psychosexual development and psychological adjustment in relation to early hormones and disease characteristics, especially genital anomalies and surgery in CAH females; (d) the relative importance of prenatal versus postnatal androgens in behavioral masculinization and defeminization. Adolescent and young adults ages 9-25) with CAH--84 females and 70 males-- and their unaffected siblings--65 females and 88 males--will be assessed on sex-typed activities and interests, gender identity, cognitive abilities (spatial and mechanical abilities, verbal memory, and decoding of emotions), emotional adjustment, and, in females aged 16 and older, sexual interests and experiences. About 60% have participated in the study since childhood, so childhood behavior can be related to current behavior. A small group of CAH girls aged 3-8 who received prenatal glucocorticoid treatment who have already been tested. Results of this study will provide information about the development of basic aspects of identity, and the nature and extent of hormonal influences on important human behaviors associated

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with mental health and social success. Data about psychological outcome will contribute to current debates about the need for early surgical intervention and prenatal treatment of girls with CAH. These issues are increasingly important because many cases of CAH are now identified through newborn screening. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: LONGITUDINAL AND RELATED PSYCHOHORMONAL STUDIES Principal Investigator & Institution: Money, John W.; Professor; Psychiatry and Behavioral Scis; Johns Hopkins University 3400 N Charles St Baltimore, Md 21218 Timing: Fiscal Year 2002; Project Start 01-APR-1998; Project End 31-MAR-2004 Summary: (provided by the applicant): The immediate objective of this proposal is to do the research for and writing of the history of pediatric clinical psychoendocrinology and psychosexology in the Johns Hopkins Pediatric Endocrine Clinic. This Clinic, the first of its kind worldwide, was founded by Lawson Wilkins, M.D., in 1946. In 1951 he foresaw the need for psychohormonal research, with special reference to the prevention of unwanted virilization in the CAH (congenital adrenal hyperplasia) syndrome of female pseudohermaphroditism with the newly discovered hormone, cortisol. The person he recruited having been myself, history and autobiography overlap chronologically and will continue to do so, in part, in the book proposed in this present grant application. The necessary information will be retrieved from voluminous records published and unpublished, and from library resources and online data bases. The initial draft of the Table of Contents will be amended and augmented if the writing so dictates. The longterm objective of the book is to provide psychohormonal and psychosexological researchers and health care providers with the information that will enable them to heed Santayana's famous warning to those who do not know their history, namely that they "are condemned to repeat it"-- as, for example, in today's revival of the nature/nurture debate. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: MANAGEMENT OF CHILDREN WITH CONGENITAL ADRENAL HYPERPLASIA Principal Investigator & Institution: Gunn, Sheila; Baylor College of Medicine 1 Baylor Plaza Houston, Tx 77030 Timing: Fiscal Year 2003 Summary: This abstract is not available. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: MITOCHONDRIAL STEROIDOGENESIS

PROTEINS

AND

LEYDIG

CELL

Principal Investigator & Institution: Stocco, Douglas M.; Professor; Cell Biology and Biochemistry; Texas Tech University Health Scis Center Health Sciences Center Lubbock, Tx 79430 Timing: Fiscal Year 2003; Project Start 01-JUL-1984; Project End 30-JUN-2006 Summary: This abstract is not available. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: MOLECULAR DIAGNOSIS HYPERPLASIA--PHENOTYPE/GENOTPE

OF

CONGENITAL

ADRENAL

Principal Investigator & Institution: Witchel, Selma; Children's Hosp Pittsburgh/Upmc Hlth Sys of Upmc Health Systems Pittsburgh, Pa 152132583 Timing: Fiscal Year 2003 Summary: To utilize the congenital adrenal hyperplasia, inborn errors of steroidogenesis, to improve knowledge regarding the pathophysiology of disorders associated with hyperandrogenism. A secondary goal is better understanding of how the hypothalamic-pituitary-adrenal axis functions. Correlation of clinical features, hormonal (Biochemical) phenotype, and genotype. The information obtained from this study will help develop optimal treatment for children with congenital adrenal hyperplasia and differentiate which children with mild hyperandrogenism require treatment with glucocorticoid and/or mineralocorticoid medications. Work in progress suggests a heterozygote advantage for 21-hydroxylase deficiency. Studies are being developed to test this hypothesis. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: PRIMATE ENDOCRINE REGULATION IN THE PERINATAL PERIOD Principal Investigator & Institution: Jaffe, Robert B.; Professor and Director, Center; Obstetrics, Gynecology & Reproductive Scis; University of California San Francisco 500 Parnassus Ave San Francisco, Ca 941222747 Timing: Fiscal Year 2002; Project Start 01-JUN-1978; Project End 30-NOV-2003 Summary: The goal of these studies is to elucidate the developmental biology of the human fetal adrenal gland. Our underlying hypothesis is that the unique structure, rate of growth and steroidogenic function of the human fetal adrenal is the net effect of ACTH secreted from the fetal pituitary and a cohort of growth factors expressed by the fetal adrenal of which insulin-like growth factor-II (IGF-II) is a major component. Based upon our preliminary findings and those of others, our specific aims are to determine: the mechanisms by which the fetal adrenals grows; the functions of the various cortical zones; the mechanism by which ACTH regulates growth and function; and the role of IGF-II in fetal growth and function. Understanding the growth and differentiation of the fetal adrenal gland is to cardinal importance because of 1) the pivotal role adrenal corticosteroids play in early enzyme induction, the coordinate development of independent organ systems necessary or intrauterine homeostasis and extrauterine survival (e.g. feta lung maturation, deposition of glycogen in the fetal liver, and induction of enzymes in the fetal brain, thyroid, gastrointestinal tract and retina), the response to intrauterine and perinatal stress; 2) the pathologic alteration of growth that occurs in congenital adrenal hyperplasia, which we hypothesize is the result of the overexpresion of locally produced growth factors stimulated by excess ACTH; 3) the atavistic reversion to a fetal mode of function in adult adrenal neoplasms; and 4) the insights into more general aspects of human organ growth that this understanding will provide. We will utilize cell culture and molecular biological techniques, as well as two newly develop;ed in vivo models (fetal adrenal tissue grafted under the kidney capsule of the athymic mouse and endogenous stimulation of the hypothalamic-pituitaryadrenal axis of the fetal rhesus monkey) to address our specific aims concerning the developmental biology of the human fetal adrenal gland. The proposed studies are to investigate specific aspects of growth and differentiation in the human fetal adrenal with the aim of determining the mechanism by which these processes are regulated. Ultimately, these adrenal with the aim of determining the mechanisms by which these

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process are regulated. Ultimately, these studies should contribute to knowledge of the role of the fetal adrenal in intrauterine development and homeostasis, the regulation of normal and altered human pregnancy, as well as greater understanding of the mechanisms of trophic hormone action on target tissue. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: PSYCHOBIOLOGY OF CONGENITAL ADRENAL HYPERPLASIA (CAH) Principal Investigator & Institution: Meyer-Bahlburg, Heino; Professor of Psychiatry; New York State Psychiatric Institute 1051 Riverside Dr New York, Ny 100321098 Timing: Fiscal Year 2002; Project Start 15-MAR-2000; Project End 28-FEB-2005 Summary: The overall objective of the project is the investigation of biological factors contributing to psychosexual differentiation in general, and of management regimens (especially genital surgery and hormonal replacement therapy) that are likely to influence long-term behavioral functioning and quality of life in patients with intersexuality. For this purpose, we propose to evaluate aspects of the behavioral development and long-term outcome of adult women (age 18 years and up) with one of the major forms of the syndrome of congenital adrenal hyperplasia (CAH) due to 21hydroxylase deficiency: prenatal-onset classical CAH (C-CAH, including both saltwasters, SW, and simple virilizers, SV) and nonclassical or late-onset CAH (NCCAH), and to search for associations of the behavioral phenotype with endocrine phenotype and molecular genotype. We expect that excess androgen exposure, especially during prenatal development, effects partial behavioral masculinization, in interaction with molecular genotype. Participants will be 50 women each with C-CAHSW and C-CAH-SV, 100 women with NC-CAH, and 50 non- CAH adults sisters or female cousins of the patients. Assessments will include a battery of interviews, questionnaires, and psychometric tests covering mental health, gender identity and gender-related behavior, sexual functioning, selected cognitive abilities, and subjective quality of life, as well as a (mostly anthropometric) physical exam and historical data from the medical chart. The project will employ a quasi-experimental design for a crosssectional comparison of the three endocrinologically and genetically defined groups of CAH patients to each other and to control women. The findings will contribute to our understanding of psychosexual differentiation in general and to the resolution of ongoing major controversies in the clinical management of patients with intersexuality. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: REGULATION OF THE STEROIDOGENIC ACUTE REGULATORY PROTEIN Principal Investigator & Institution: Clark, Barbara J.; Biochem and Molecular Biology; University of Louisville Jouett Hall, Belknap Campus Louisville, Ky 40292 Timing: Fiscal Year 2002; Project Start 15-AUG-1996; Project End 31-MAR-2006 Summary: (provided by applicant) Steroidogenesis in the adrenal and gonads is acutely controlled by tropic hormones via regulating the synthesis of the steroidogenic acute regulatory (StAR) protein. StAR synthesis is critical for cholesterol translocation across the mitochondrial outer membrane to the inner membrane where the first enzymatic step in steroidogenesis occurs; cholesterol conversion to pregnenolone by the cholesterol side-chain cleavage enzyme. Mutation(s) in the StAR gene that lead to the production of a non-functional protein is the genetic basis for the disorder lipoid congenital adrenal hyperplasia (LCAH). LCAH patients have markedly impaired adrenal and gonadal

14


steroidogenesis due to the inability to transport cholesterol into mitochondria. Thus, understanding the mechanisms that control StAR expression and function is fundamentally important. Multiple signaling pathways have been shown to regulate StAR at both the transcriptional and post-transcriptional level in a cell-specific manner. StAR transcription and protein expression, however, appear to be independently regulated by the cAMP-protein kinase a pathway. The overall objective for this research is to elucidate the molecular mechanisms for the cAMP-dependent regulation of StAR expression at the transcriptional and translational, and post-translational levels in mouse Leydig and adrenal cells. The studies outlined in this proposal will determine whether I) the cAMP-dependent increase in StAR gene activation involves both loss of repressor and gain of activator, functions, 2) the level of cAMP-dependent protein kinase A activity distinguishes StAR (acute) from CYP1 IA (chronic) gene expression, 3) protein kinase A functions at the post-transcriptional level to control StAR protein expression, and 4) StAR is translated on polysomes associated with mitochondria. Defining the specific mechanisms for cAMP-dependent StAR regulation within one cell type is important in defining the similarities and differences in tropic hormone action on adrenal, ovarin, and testicular production of steroids. This will ultimately lead to a better understanding of potential developmental or disease states that result from aberrant over- or under-expression of StAR in a cell-specific manner. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: STUDY OF WOMEN WITH CONGENITAL ADRENAL HYPERPLASIA Principal Investigator & Institution: Migeon, Claude J.; Professor; Pediatrics; Johns Hopkins University 3400 N Charles St Baltimore, Md 21218 Timing: Fiscal Year 2002; Project Start 13-APR-2001; Project End 31-MAR-2005 Summary: (Adapted from the Investigator's Description): The principle goal of this study is to document long-term psychosexual development as it relates to excess androgen exposure during pre- and postnatal development in women with Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency. Additionally, the investigators plan to study the impact of genital surgery on psychosexual development in CAH women. Participants include 150 CAH women over 18 years of age. Comparison subjects include 50 unaffected female siblings or first cousins of CAH participants and 50 patients with polycystic ovary disease (PCO). The specific aims are as follows: (1) determine degree of androgen exposure at various developmental stages in women with CAH, (2) identify factors such as timing and type of genital surgery that influence psychosexual development in women with CAH, (3) assess psychosexual development in women with CAH and (4) investigate relationships between degree of androgen exposure, timing of androgen exposure and genital surgery with psychosexual development in women with CAH. Knowledge gained from this investigation will contribute to our understanding of androgenic influences on individual differences in development and expression of cognitive and sexual behaviors. Furthermore, information obtained from this study will contribute to improved medical and surgical treatment of CAH women. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: TRIAL OF GROWTH HORMONE AND LEUPROLIDE IN CHILDREN WITH CAH Principal Investigator & Institution: Vogiatzi, Maria G.; Weill Medical College of Cornell Univ New York, Ny 10021

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Timing: Fiscal Year 2003 Summary: CAH is associated with stunting of adult stature. The effect of growth hormone treatment alone or in combination with leuprolide acetate, to arrest early central puberty, will be evaluated. Improvement in height prediction in relation to midparental height after two years of treatment will be compared to growth data of historical control patients with CAH. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: VACCINE THERAPY OF CONGENITAL ADRENAL HYPERPLASIA Principal Investigator & Institution: Rivkees, S A.; Associate Professor; L2 Diagnostics, Llc Box 8175 New Haven, Ct 94904 Timing: Fiscal Year 2003; Project Start 01-SEP-2003; Project End 31-AUG-2004 Summary: (provided by applicant): Congenital virilizing adrenal hyperplasia (CAH) is caused by impaired adrenal steroidogenesis that results in reduced production of cortisol and aldosterone, and excessive production of androgens. Whereas there are consequences of reduced cortisol and aldosterone production, increased androgen is responsible for most of the adverse effects of this condition. In normal conditions and in CAH, excessive androgen production is regulated by pituitary ACTH, which acts via the melanocortin-2 receptor (MC2R) in the adrenal gland to stimulate steroid production. If activation of the MC2R can be inhibited, adrenal activity in CAH will be markedly reduced and management optimized. In this application we propose the development of a novel immunological approach for inducing adrenal insufficiency in patients with CAH by making a vaccine that inhibits ACTH-mediated activation of the MC2R. This application is based on preliminary studies showing that antibodies to the MC2R inhibit the ability of ACTH to activate MC2R function in adrenal cells. We also find that immunizing mice with synthetic peptides that correspond to small regions of the MC2R induces an immune response against the MC2R. Based on these observations, we hypothesize that it is possible to develop a "vaccine" against the MC2R that blocks ACTH action. We also hypothesize that a vaccine against the MC2R will lead to improved treatment of CAH, To test these hypotheses we propose to (1) induce immunity against the MC2R by immunizing mice with modified peptides. (2) Determine if vaccinating mice with modified MC2R peptides leads to adrenal insufficiency. We anticipate that these studies will lead to the development of a novel approach for treating patients with CAH. If these phase I studies are effective, phase II studies will focus on preclinical trials in non-human primates. We also anticipate being able to extend this novel approach to the treatment of other receptor-mediated endocrine disorders, such as hyperthyroidism. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

E-Journals: PubMed Central3 PubMed Central (PMC) is a digital archive of life sciences journal literature developed and managed by the National Center for Biotechnology Information (NCBI) at the U.S. National Library of Medicine (NLM).4 Access to this growing archive of e-journals is free and 3 4

Adapted from the National Library of Medicine: http://www.pubmedcentral.nih.gov/about/intro.html.

With PubMed Central, NCBI is taking the lead in preservation and maintenance of open access to electronic literature, just as NLM has done for decades with printed biomedical literature. PubMed Central aims to become a world-class library of the digital age.

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unrestricted.5 To search, go to http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Pmc, and type “congenital adrenal hyperplasia” (or synonyms) into the search box. This search gives you access to full-text articles. The following is a sample of items found for congenital adrenal hyperplasia in the PubMed Central database: •

Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia. by Harada F, Kimura A, Iwanaga T, Shimozawa K, Yata J, Sasazuki T.; 1987 Nov; http://www.pubmedcentral.gov/picrender.fcgi?tool=pmcentrez&action=stream&blobt ype=pdf&artid=299484

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HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation. by White PC, New MI, Dupont B.; 1984 Dec; http://www.pubmedcentral.gov/picrender.fcgi?tool=pmcentrez&action=stream&blobt ype=pdf&artid=392175

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Mutations in the CYP11B1 Gene Causing Congenital Adrenal Hyperplasia and Hypertension Cluster in Exons 6, 7, and 8. by Curnow KM, Slutsker L, Vitek J, Cole T, Speiser PW, New MI, White PC, Pascoe L.; 1993 May 15; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=abstr act&artid=46550

•

Steroid disorders in children: Congenital adrenal hyperplasia and apparent mineralocorticoid excess. by New MI, Wilson RC.; 1999 Oct 26; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&artid=23101

The National Library of Medicine: PubMed One of the quickest and most comprehensive ways to find academic studies in both English and other languages is to use PubMed, maintained by the National Library of Medicine.6 The advantage of PubMed over previously mentioned sources is that it covers a greater number of domestic and foreign references. It is also free to use. If the publisher has a Web site that offers full text of its journals, PubMed will provide links to that site, as well as to sites offering other related data. User registration, a subscription fee, or some other type of fee may be required to access the full text of articles in some journals. To generate your own bibliography of studies dealing with congenital adrenal hyperplasia, simply go to the PubMed Web site at http://www.ncbi.nlm.nih.gov/pubmed. Type “congenital adrenal hyperplasia” (or synonyms) into the search box, and click “Go.” The following is the type of output you can expect from PubMed for congenital adrenal hyperplasia (hyperlinks lead to article summaries):

5

The value of PubMed Central, in addition to its role as an archive, lies in the availability of data from diverse sources stored in a common format in a single repository. Many journals already have online publishing operations, and there is a growing tendency to publish material online only, to the exclusion of print. 6 PubMed was developed by the National Center for Biotechnology Information (NCBI) at the National Library of Medicine (NLM) at the National Institutes of Health (NIH). The PubMed database was developed in conjunction with publishers of biomedical literature as a search tool for accessing literature citations and linking to full-text journal articles at Web sites of participating publishers. Publishers that participate in PubMed supply NLM with their citations electronically prior to or at the time of publication.

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A family at risk of congenital adrenal hyperplasia: a molecular approach for prenatal diagnosis. Author(s): Ruangvutilert P, Techatraisak K, Kanokpongsakdi S. Source: J Med Assoc Thai. 2001 December; 84(12): 1766-71. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11999826

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A multicenter study of women with nonclassical congenital adrenal hyperplasia: relationship between genotype and phenotype. Author(s): Speiser PW, Knochenhauer ES, Dewailly D, Fruzzetti F, Marcondes JA, Azziz R. Source: Molecular Genetics and Metabolism. 2000 November; 71(3): 527-34. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11073721

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A novel nonsense mutation in the Cyp11B1 gene from a subject with the steroid 11beta-hydroxylase form of congenital adrenal hyperplasia. Author(s): Kuribayashi I, Massa G, van den Tooren-de Groot HK, Oostdijk W, Wit JM, Shizuta Y. Source: Endocrine Research. 2003 November; 29(4): 377-81. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14682466

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A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia. Author(s): Pang S, Wang W, Rich B, David R, Chang YT, Carbunaru G, Myers SE, Howie AF, Smillie KJ, Mason JI. Source: The Journal of Clinical Endocrinology and Metabolism. 2002 June; 87(6): 2556-63. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12050213

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A posterior-based omega-shaped flap vaginoplasty in girls with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. Author(s): Freitas Filho LG, Carnevale J, Melo CE, Laks M, Calcagno Silva M. Source: Bju International. 2003 February; 91(3): 263-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12581016

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A preliminary study of flutamide, testolactone, and reduced hydrocortisone dose in the treatment of congenital adrenal hyperplasia. Author(s): Laue L, Merke DP, Jones JV, Barnes KM, Hill S, Cutler GB Jr. Source: The Journal of Clinical Endocrinology and Metabolism. 1996 October; 81(10): 3535-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8855797

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Accelerated dental development as a presenting symptom of 21-hydroxylase deficient nonclassic congenital adrenal hyperplasia. Author(s): Singer S, Pinhas-Hamiel O, Botzer E. Source: Clinical Pediatrics. 2001 November; 40(11): 621-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11758963

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Adrenal nodules in patients with congenital adrenal hyperplasia due to 21hydroxylase deficiency: regression after adequate hormonal control. Author(s): Giacaglia LR, Mendonca BB, Madureira G, Melo KF, Suslik CA, Arnhold IJ, Bachega TA. Source: J Pediatr Endocrinol Metab. 2001 April; 14(4): 415-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11327375

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Adrenal tumors associated with inadequately treated congenital adrenal hyperplasia. Author(s): Wang J, Bissada MA, Williamson HO, Yakout H, Bissada NK. Source: Can J Urol. 2002 June; 9(3): 1563-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12121582

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Adrenocorticotropin stimulation test in congenital adrenal hyperplasia: comparison between standard and low dose test. Author(s): Panamonta O, Thinkhamrop B, Kirdpon W, Pudtawaro LO, Sungsahachart D. Source: J Med Assoc Thai. 2003 July; 86(7): 634-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12948258

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An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity. Author(s): Giwercman YL, Nordenskjold A, Ritzen EM, Nilsson KO, Ivarsson SA, Grandell U, Wedell A. Source: The Journal of Clinical Endocrinology and Metabolism. 2002 June; 87(6): 2623-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12050225

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An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia. Author(s): Lajic S, Wedell A. Source: Human Genetics. 1996 August; 98(2): 182-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8698338

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Analysis of 21-deoxycortisol, a marker of congenital adrenal hyperplasia, in blood by atmospheric pressure chemical ionization and electrospray ionization using multiple reaction monitoring. Author(s): Cristoni S, Cuccato D, Sciannamblo M, Bernardi LR, Biunno I, Gerthoux P, Russo G, Weber G, Mora S. Source: Rapid Communications in Mass Spectrometry : Rcm. 2004; 18(1): 77-82. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14689562

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Analyzing the cost of neonatal screening for congenital adrenal hyperplasia. Author(s): Brosnan CA, Brosnan PG, Swint JM. Source: Pediatrics. 2001 May; 107(5): 1238. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11388323

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Anorexia nervosa in congenital adrenal hyperplasia: long-term follow-up of 4 cases. Author(s): Brand M, Schoof E, Partsch C-J, Peter M, Hoepffner W, Dorr HG, Sippell WG. Source: Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association. 2000; 108(6): 430-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11026757

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Another issue in traditional medical therapy for congenital adrenal hyperplasia. Author(s): Arisaka O, Numata M, Hoshi M, Kanazawa S. Source: The Journal of Pediatrics. 2001 October; 139(4): 610. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11598617

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Antenatal corticosteroids and newborn screening for congenital adrenal hyperplasia. Author(s): King JL, Naber JM, Hopkin RJ, Repaske DR, Bailey L, Leslie ND. Source: Archives of Pediatrics & Adolescent Medicine. 2001 September; 155(9): 1038-42. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11529806

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Antenatal diagnosis and treatment of congenital adrenal hyperplasia. Author(s): New MI. Source: Curr Urol Rep. 2001 February; 2(1): 11-8. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12084289

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Antenatal treatment for classic 21-hydroxylase forms of congenital adrenal hyperplasia and the issues. Author(s): Travitz J, Metzger DL. Source: Genetics in Medicine : Official Journal of the American College of Medical Genetics. 1999 July-August; 1(5): 224-30; Quiz 231-2. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11256677

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Application of polymerase chain reaction with oligoligation assay to determine genotype in individuals presenting with congenital adrenal hyperplasia. Author(s): Hogg JE, Gaffney D, Hector RD, Coleman MM, Wallace AM. Source: Annals of Clinical Biochemistry. 2002 May; 39(Pt 3): 293-303. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12038604

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Back to basics: early diagnosis and compliance improve final height outcome in congenital adrenal hyperplasia. Author(s): Schwartz RP. Source: The Journal of Pediatrics. 2001 January; 138(1): 3-5. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11148504

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Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia. Author(s): Lambert JR, Willems P, Abs R, Van Roy B. Source: Journal of the American Academy of Dermatology. 1994 April; 30(4): 655-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8157797

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Behavioral and physical masculinization are related to genotype in girls with congenital adrenal hyperplasia. Author(s): Hall CM, Jones JA, Meyer-Bahlburg HF, Dolezal C, Coleman M, Foster P, Price DA, Clayton PE. Source: The Journal of Clinical Endocrinology and Metabolism. 2004 January; 89(1): 41924. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14715880

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Behavioral effects of prenatal versus postnatal androgen excess in children with 21hydroxylase-deficient congenital adrenal hyperplasia. Author(s): Berenbaum SA, Duck SC, Bryk K. Source: The Journal of Clinical Endocrinology and Metabolism. 2000 February; 85(2): 727-33. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10690883

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Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden. Author(s): Thil'en A, Nordenstrom A, Hagenfeldt L, von Dobeln U, Guthenberg C, Larsson A. Source: Pediatrics. 1998 April; 101(4): E11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9521977

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Bilateral laparoscopic adrenalectomy as a treatment for classic congenital adrenal hyperplasia attributable to 21-hydroxylase deficiency. Author(s): Gmyrek GA, New MI, Sosa RE, Poppas DP. Source: Pediatrics. 2002 February; 109(2): E28. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11826238

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Bilateral laparoscopic adrenalectomy for congenital adrenal hyperplasia with severe hypertension, resulting from two novel mutations in splice donor sites of CYP11B1. Author(s): Chabre O, Portrat-Doyen S, Chaffanjon P, Vivier J, Liakos P, Labat-Moleur F, Chambaz E, Morel Y, Defaye G. Source: The Journal of Clinical Endocrinology and Metabolism. 2000 November; 85(11): 4060-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11095433

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Bilateral laparoscopic adrenalectomy: a new treatment for difficult cases of congenital adrenal hyperplasia. Author(s): Meyers RL, Grua JR. Source: Journal of Pediatric Surgery. 2000 November; 35(11): 1586-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11083429

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Bilateral ovarian steroid cell tumor in congenital adrenal hyperplasia due to classic 11beta-hydroxylase deficiency. Author(s): Bas F, Saka N, Darendeliler F, Tuzlali S, Ilhan R, Bundak R, Gunoz H. Source: J Pediatr Endocrinol Metab. 2000 June; 13(6): 663-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10905393

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Bilateral testicular adrenal rest tissue in congenital adrenal hyperplasia: US and MR features. Author(s): Proto G, Di Donna A, Grimaldi F, Mazzolini A, Purinan A, Bertolissi F. Source: J Endocrinol Invest. 2001 July-August; 24(7): 529-31. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11508788

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Bilateral testicular enlargement due to adrenal remnant in a patient with C11 hydroxylase deficiency congenital adrenal hyperplasia. Author(s): Ghazi AA, Hadayegh F, Khakpour G, Azizi F, Melby JC. Source: J Endocrinol Invest. 2003 January; 26(1): 84-7. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12602540

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Bioavailability of oral hydrocortisone in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Author(s): Charmandari E, Johnston A, Brook CG, Hindmarsh PC. Source: The Journal of Endocrinology. 2001 April; 169(1): 65-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11250647

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Blood pressure in children and adolescents with congenital adrenal hyperplasia (21hydroxylase deficiency): a preliminary report. Author(s): Roche EF, Charmandari E, Dattani MT, Hindmarsh PC. Source: Clinical Endocrinology. 2003 May; 58(5): 589-96. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12699440

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Bloodspot testosterone assay suitable for study of neonates and monitoring of children with congenital adrenal hyperplasia. Author(s): Walker J, Hughes IA, Wood PJ. Source: Annals of Clinical Biochemistry. 1999 July; 36 ( Pt 4): 477-82. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10456210

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Blunted adrenarche in patients with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Author(s): Sellers EP, MacGillivray MH. Source: Endocrine Research. 1995 August; 21(3): 537-44. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7588424

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Bone density in young patients with congenital adrenal hyperplasia. Author(s): Mora S, Saggion F, Russo G, Weber G, Bellini A, Prinster C, Chiumello G. Source: Bone. 1996 April; 18(4): 337-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8726391

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Bone growth oscillation: longitudinal metabolic process of bone growth in congenital adrenal hyperplasia and nonendocrine short stature. Author(s): Arisaka O, Kanno H, Negishi M, Kojima M, Nishikura K, Numata M, Kanazawa S, Nitta A, Kuribayashi T, Kano K. Source: Metabolism: Clinical and Experimental. 2002 November; 51(11): 1377-80. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12404182

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Bone mineral density and body composition in congenital adrenal hyperplasia. Author(s): Cameron FJ, Kaymakci B, Byrt EA, Ebeling PR, Warne GL, Wark JD. Source: The Journal of Clinical Endocrinology and Metabolism. 1995 July; 80(7): 2238-43. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7608286

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Bone mineral density in prepubertal and in adolescent and young adult patients with the salt-wasting form of congenital adrenal hyperplasia. Author(s): Gussinye M, Carrascosa A, Potau N, Enrubia M, Vicens-Calvet E, Ibanez L, Yeste D. Source: Pediatrics. 1997 October; 100(4): 671-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9310523

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Bone turnover and bone mineral density in patients with congenital adrenal hyperplasia. Author(s): Guo CY, Weetman AP, Eastell R. Source: Clinical Endocrinology. 1996 November; 45(5): 535-41. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8977749

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Children with classic congenital adrenal hyperplasia have decreased amygdala volume: potential prenatal and postnatal hormonal effects. Author(s): Merke DP, Fields JD, Keil MF, Vaituzis AC, Chrousos GP, Giedd JN. Source: The Journal of Clinical Endocrinology and Metabolism. 2003 April; 88(4): 1760-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12679470

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Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a crosssectional study of factors involved in bone mineral density. Author(s): de Almeida Freire PO, de Lemos-Marini SH, Maciel-Guerra AT, Morcillo AM, Matias Baptista MT, de Mello MP, Guerra G Jr. Source: Journal of Bone and Mineral Metabolism. 2003; 21(6): 396-401. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14586796

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Cognitive and motor development of children with and without congenital adrenal hyperplasia after early-prenatal dexamethasone. Author(s): Meyer-Bahlburg HF, Dolezal C, Baker SW, Carlson AD, Obeid JS, New MI. Source: The Journal of Clinical Endocrinology and Metabolism. 2004 February; 89(2): 610-4. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14764770

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Congenital adrenal hyperplasia and acne in male patients. Author(s): Degitz K, Placzek M, Arnold B, Schmidt H, Plewig G. Source: The British Journal of Dermatology. 2003 June; 148(6): 1263-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12828760

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Congenital adrenal hyperplasia complicated by central precocious puberty: linear growth during infancy and treatment with gonadotropin-releasing hormone analog. Author(s): Soliman AT, AlLamki M, AlSalmi I, Asfour M. Source: Metabolism: Clinical and Experimental. 1997 May; 46(5): 513-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9160816

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Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency with skeletal abnormalities. Author(s): Ajlouni KM, Arnaout MA, Qoussous Y. Source: J Endocrinol Invest. 1996 May; 19(5): 316-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8796341

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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency associated with bilateral keratoconus. Author(s): Incorvaia C, Parmeggiani F, Costagliola C, Perri P, Tittoni M, Sebastiani A. Source: American Journal of Ophthalmology. 2003 April; 135(4): 557-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12654384

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Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency. Author(s): Zachmann M. Source: European Journal of Pediatrics. 1996 April; 155(4): 259-61. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8777917

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Congenital adrenal hyperplasia in Turkey: a review of 273 patients. Author(s): Kandemir N, Yordam N. Source: Acta Paediatrica (Oslo, Norway : 1992). 1997 January; 86(1): 22-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9116420

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Congenital adrenal hyperplasia presenting as massive adrenal incidentalomas in the sixth decade of life: report of two patients with 21-hydroxylase deficiency. Author(s): Ravichandran R, Lafferty F, McGinniss MJ, Taylor HC. Source: The Journal of Clinical Endocrinology and Metabolism. 1996 May; 81(5): 1776-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8626833

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Congenital adrenal hyperplasia. Author(s): New MI, Newfield RS. Source: Curr Ther Endocrinol Metab. 1997; 6: 179-87. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9174733

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Congenital adrenal hyperplasia. Author(s): Speiser PW, White PC. Source: The New England Journal of Medicine. 2003 August 21; 349(8): 776-88. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12930931

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Congenital adrenal hyperplasia: is there an effect on penile growth? Author(s): Levy JB, Husmann DA. Source: The Journal of Urology. 1996 August; 156(2 Pt 2): 780-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8683782

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Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980-1995. Author(s): Balsamo A, Cacciari E, Piazzi S, Cassio A, Bozza D, Pirazzoli P, Zappulla F. Source: Pediatrics. 1996 September; 98(3 Pt 1): 362-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8784357

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Congenital adrenal hyperplasia: phenotype and genotype. Author(s): Hughes I. Source: J Pediatr Endocrinol Metab. 2002 December; 15 Suppl 5: 1329-40. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12510987

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Congenital adrenal hyperplasia: surgical considerations required to repair a 46,XX patient raised as a boy. Author(s): Dasgupta R, Schnitzer JJ, Hendren WH, Donahoe PK. Source: Journal of Pediatric Surgery. 2003 August; 38(8): 1269-73. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12891512

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Congenital atresia of the portal vein and extrahepatic portocaval shunt associated with benign neonatal hemangiomatosis, congenital adrenal hyperplasia, and atrial septal defect. Author(s): Pohl A, Jung A, Vielhaber H, Pfluger T, Schramm T, Lang T, Kellnar S, Schober JG. Source: Journal of Pediatric Surgery. 2003 April; 38(4): 633-4. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12677584

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Consanguinity in two seemingly unrelated patients with congenital adrenal hyperplasia. Author(s): Vierhapper H, Vierhapper MS, Kapelari K, Baumgartner-Parzer S, Kofler R. Source: Lancet. 1996 March 9; 347(9002): 699. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8596422

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CYP11 beta 1 (11-beta-hydroxylase) deficiency in congenital adrenal hyperplasia. Author(s): Burren CP, Montalto J, Yong AB, Batch JA. Source: Journal of Paediatrics and Child Health. 1996 October; 32(5): 433-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8933406

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CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 betahydroxylase deficiency. Author(s): Geley S, Kapelari K, Johrer K, Peter M, Glatzl J, Vierhapper H, Schwarz S, Helmberg A, Sippell WG, White PC, Kofler R. Source: The Journal of Clinical Endocrinology and Metabolism. 1996 August; 81(8): 2896-901. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8768848

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Daily profiles of salivary cortisol in hydrocortisone treated children with congenital adrenal hyperplasia. Author(s): Hampl R, Foretova L, Sulcova J, Starka L. Source: European Journal of Pediatrics. 1990 January; 149(4): 232-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2303071

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Defective, deleted or converted CYP21B gene and negative association with a rare restriction fragment length polymorphism allele of the factor B gene in congenital adrenal hyperplasia. Author(s): Ghanem N, Lobaccaro JM, Buresi C, Abbal M, Halaby G, Sultan C, Lefranc G. Source: Human Genetics. 1990 December; 86(2): 117-25. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1979956

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Delay in diagnosis of congenital adrenal hyperplasia in an acutely ill infant. The confounding effect of unrelated medical therapies. Author(s): Zeitler P. Source: Clinical Pediatrics. 1995 November; 34(11): 603-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8565391

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Delayed diagnosis of congenital adrenal hyperplasia in a premature female infant. Author(s): Cruz TV, MacMillan DR, Browning RM, Stewart DL. Source: J Ky Med Assoc. 1995 January; 93(1): 19-21. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7852825

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Deletion hybrid genes, due to unequal crossing over between CYP11B1 (11betahydroxylase) and CYP11B2(aldosterone synthase) cause steroid 11beta-hydroxylase deficiency and congenital adrenal hyperplasia. Author(s): Portrat S, Mulatero P, Curnow KM, Chaussain JL, Morel Y, Pascoe L. Source: The Journal of Clinical Endocrinology and Metabolism. 2001 July; 86(7): 3197201. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11443188

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Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia. Author(s): Rumsby G, Carroll MC, Porter RR, Grant DB, Hjelm M. Source: Journal of Medical Genetics. 1986 June; 23(3): 204-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3487654

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Dermatoglyphics in congenital adrenal hyperplasia (CAH). Author(s): Borger D, Held KR, Luttgen S. Source: Clinical Genetics. 1986 September; 30(3): 173-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3780032

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Dexamethasone treatment for congenital adrenal hyperplasia. Author(s): Young MC, Hughes IA. Source: Archives of Disease in Childhood. 1990 March; 65(3): 312-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2334212

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Dexamethasone treatment of congenital adrenal hyperplasia in utero: an experimental therapy of unproven safety. Author(s): Miller WL. Source: The Journal of Urology. 1999 August; 162(2): 537-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10411085

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Dexamethasone treatment of virilizing congenital adrenal hyperplasia: the ability to achieve normal growth. Author(s): Rivkees SA, Crawford JD. Source: Pediatrics. 2000 October; 106(4): 767-73. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11015521

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Diabetes mellitus associated with late onset congenital adrenal hyperplasia: coincidence or causality? Author(s): Jermendy G, Szabolcs I, Szilagyi G, Domotor L, Karpati P. Source: Diabetic Medicine : a Journal of the British Diabetic Association. 1991 June; 8(5): 489-91. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1830536

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Diagnosis and management of congenital adrenal hyperplasia. Author(s): New MI. Source: Annual Review of Medicine. 1998; 49: 311-28. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9509266

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Diagnosis and management of congenital adrenal hyperplasia: clinical, molecular and prenatal aspects. Author(s): Mathur R, Kabra M, Menon PS. Source: Natl Med J India. 2001 January-February; 14(1): 26-31. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11242695

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Different gene defects in the salt-wasting (SW), simple virilizing (SV), and nonclassical (NC) types of congenital adrenal hyperplasia (CAH). Author(s): Knorr D, Albert ED, Bidlingmaier F, Holler W, Scholz S. Source: Annals of the New York Academy of Sciences. 1985; 458: 71-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3879133

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Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia. Author(s): Lee HH, Chao HT, Ng HT, Choo KB. Source: Journal of Medical Genetics. 1996 May; 33(5): 371-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8733045

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Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Author(s): Speiser PW, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusie-Luna MT, Lesser M, New MI, White PC. Source: The Journal of Clinical Investigation. 1992 August; 90(2): 584-95. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1644925

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Disorders of gonadal differentiation and congenital adrenal hyperplasia. Author(s): New MI, Josso N. Source: Endocrinology and Metabolism Clinics of North America. 1988 June; 17(2): 33966. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3042390

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Diurnal variation in blood 17-hydroxyprogesterone concentrations in untreated congenital adrenal hyperplasia. Author(s): Solyom J. Source: Archives of Disease in Childhood. 1984 August; 59(8): 743-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6541026

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DNA and RNA analysis of cytochrome P-450 21-hydroxylase: transcriptional activity in congenital adrenal hyperplasia. Author(s): al-Othman AN, Docherty K, Makgoba MW, Sheppard MC, London DR. Source: Journal of Molecular Endocrinology. 1988 November; 1(3): 157-64. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2475127

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DNA polymorphism unique for a complotype with deletion of HLA-linked C4B and 21-hydroxylase B genes causing congenital adrenal hyperplasia. Author(s): Partanen J, Koskimies S, Sipila I. Source: Human Genetics. 1988 April; 78(4): 372-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2896160

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E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with saltlosing congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Author(s): Kirby-Keyser L, Porter CC, Donohoue PA. Source: Human Mutation. 1997; 9(2): 181-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9067760

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Early androgen effects on aggression in children and adults with congenital adrenal hyperplasia. Author(s): Berenbaum SA, Resnick SM. Source: Psychoneuroendocrinology. 1997 October; 22(7): 505-15. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9373884

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Early growth, pubertal development, body mass index and final height of patients with congenital adrenal hyperplasia: factors influencing the outcome. Author(s): Manoli I, Kanaka-Gantenbein Ch, Voutetakis A, Maniati-Christidi M, DacouVoutetakis C. Source: Clinical Endocrinology. 2002 November; 57(5): 669-76. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12390343

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Early one-stage surgical reconstruction of the extremely high vagina in patients with congenital adrenal hyperplasia. Author(s): Donahoe PK, Gustafson ML. Source: Journal of Pediatric Surgery. 1994 February; 29(2): 352-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8176619

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Effect of carbenoxolone on the plasma renin activity and hypothalamic-pituitaryadrenal axis in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Author(s): Irony I, Cutler GB. Source: Clinical Endocrinology. 1999 September; 51(3): 285-91. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10469007

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Effect of newborn screening for congenital adrenal hyperplasia. Author(s): Brosnan PG, Brosnan CA, Kemp SF, Domek DB, Jelley DH, Blackett PR, Riley WJ. Source: Archives of Pediatrics & Adolescent Medicine. 1999 December; 153(12): 1272-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10591305

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Effect of the dose of oral hydrocortisone on growth rate during long-term treatment of children with salt losing congenital adrenal hyperplasia. Author(s): Ciaccio M, Montiveros C, Rivarola MA, Belgorosky A. Source: Medicina (B Aires). 2002; 62(6): 551-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12532689

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Effect of treatment on growth in congenital adrenal hyperplasia. Author(s): Ercan O, Hatemi S, Kutlu E, Turan N. Source: Indian J Pediatr. 2000 November; 67(11): 783-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11216375

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Effects of early androgens on sex-typed activities and interests in adolescents with congenital adrenal hyperplasia. Author(s): Berenbaum SA. Source: Hormones and Behavior. 1999 February; 35(1): 102-10. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10049608

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Effects of long term dexamethasone treatment in adult patients with congenital adrenal hyperplasia. Author(s): Horrocks PM, London DR. Source: Clinical Endocrinology. 1987 December; 27(6): 635-42. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2843311

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Effects on gender identity of prenatal androgens and genital appearance: evidence from girls with congenital adrenal hyperplasia. Author(s): Berenbaum SA, Bailey JM. Source: The Journal of Clinical Endocrinology and Metabolism. 2003 March; 88(3): 11026. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12629091

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Elevated androgen, brain development and language/learning disabilities in children with congenital adrenal hyperplasia. Author(s): Plante E, Boliek C, Binkiewicz A, Erly WK. Source: Developmental Medicine and Child Neurology. 1996 May; 38(5): 423-37. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8698150

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Emerging role for tandem mass spectrometry in detecting congenital adrenal hyperplasia. Author(s): Marsden D, Larson CA. Source: Clinical Chemistry. 2004 March; 50(3): 467-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14981024

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Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia. Author(s): Cameron FJ, Tebbutt N, Montalto J, Yong AB, Zacharin M, Best JD, Warne GL. Source: Archives of Disease in Childhood. 1996 May; 74(5): 406-11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8669955

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Enlarged adrenal glands as a prenatal marker of congenital adrenal hyperplasia: a report of two cases. Author(s): Esser T, Chaoui R. Source: Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology. 2004 March; 23(3): 293-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=15027021

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Euthyroid hyperthyrotropinemia secondary to hyperestrogenemia in a male with congenital adrenal hyperplasia. Author(s): Benvenga S, Smedile G, Lo Giudice F, Alesci S, Amato A, Trimarchi F. Source: Hormone and Metabolic Research. Hormon- Und Stoffwechselforschung. Hormones Et Metabolisme. 2000 August; 32(8): 321-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10983628

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Evaluation of neonatal screening for congenital adrenal hyperplasia. Author(s): Honour JW, Torresani T. Source: Hormone Research. 2001; 55(4): 206-11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11598376

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Evaluation of young women with congenital adrenal hyperplasia: a pilot study. Author(s): van der Kamp HJ, Slijper FM, Brandenburg H, de Muinck Keizer-Schrama SM, Drop SL, Molenaar JC. Source: Hormone Research. 1992; 37 Suppl 3: 45-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1427641

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Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21hydroxylase deficiency. Author(s): Witchel SF, Lee PA, Suda-Hartman M, Trucco M, Hoffman EP. Source: The Journal of Clinical Endocrinology and Metabolism. 1997 July; 82(7): 2097101. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9215278

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Evidence for the secretion of an antimineralocorticoid in congenital adrenal hyperplasia. Author(s): Kuhnle U, Land M, Ulick S. Source: The Journal of Clinical Endocrinology and Metabolism. 1986 May; 62(5): 934-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3007560

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Factors determining final height in congenital adrenal hyperplasia. Author(s): New MI; International Workshop on Management of Puberty for Optimum Auxological Results. Source: J Pediatr Endocrinol Metab. 2001 July; 14 Suppl 2: 933-7. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11529398

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Failure of cortisone acetate treatment in congenital adrenal hyperplasia because of defective 11beta-hydroxysteroid dehydrogenase reductase activity. Author(s): Nordenstrom A, Marcus C, Axelson M, Wedell A, Ritzen EM. Source: The Journal of Clinical Endocrinology and Metabolism. 1999 April; 84(4): 1210-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10199755

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Failure of steroid replacement to consistently normalize pituitary function in congenital adrenal hyperplasia: hormonal and MRI data. Author(s): Speiser PW, Heier L, Serrat J, New MI, Nass R. Source: Hormone Research. 1995; 44(6): 241-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8808008

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False negatives at neonatal screening for congenital adrenal hyperplasia in two siblings with 21-hydroxylase deficiency. Author(s): Shinohara O, Ishiguro H, Shinagawa T, Kubota C. Source: Endocrine Journal. 1998 June; 45(3): 427-30. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9790280

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Female pseudohermaphroditism and inefficient peak bone mass in an untreated subject affected by 21-hydroxylase congenital adrenal hyperplasia. Author(s): Valentino R, Savastano S, Tommaselli AP, Dorato M, Scarpitta MT, Calvanese E, Del Puente A, Lombardi G. Source: J Endocrinol Invest. 2000 May; 23(5): 317-20. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10882150

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Female pseudohermaphroditism due to congenital adrenal hyperplasia complicated by adenocarcinoma of the prostate and clear cell carcinoma of the endometrium. Author(s): Winters JL, Chapman PH, Powell DE, Banks ER, Allen WR, Wood DP Jr. Source: American Journal of Clinical Pathology. 1996 November; 106(5): 660-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8929478

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Feminizing genitoplasty for congenital adrenal hyperplasia: what happens at puberty? Author(s): Alizai NK, Thomas DF, Lilford RJ, Batchelor AG, Johnson N. Source: The Journal of Urology. 1999 May; 161(5): 1588-91. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10210421

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Feminizing genitoplasty in patients with 46XX congenital adrenal hyperplasia. Author(s): Farkas A, Chertin B. Source: J Pediatr Endocrinol Metab. 2001 June; 14(6): 713-22. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11453519

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Fertility and body composition after laparoscopic bilateral adrenalectomy in a 30year-old female with congenital adrenal hyperplasia. Author(s): Bruining H, Bootsma AH, Koper JW, Bonjer J, de Jong FF, Lamberts SW. Source: The Journal of Clinical Endocrinology and Metabolism. 2001 February; 86(2): 482-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11157995

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Fertility and its complications in a patient with salt losing congenital adrenal hyperplasia. Author(s): Zacharin M. Source: J Pediatr Endocrinol Metab. 1999 January-February; 12(1): 89-94. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10392354

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Fertility in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Author(s): Stikkelbroeck NM, Hermus AR, Braat DD, Otten BJ. Source: Obstetrical & Gynecological Survey. 2003 April; 58(4): 275-84. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12665708

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Fetal sex determination from maternal plasma in pregnancies at risk for congenital adrenal hyperplasia. Author(s): Rijnders RJ, van der Schoot CE, Bossers B, de Vroede MA, Christiaens GC. Source: Obstetrics and Gynecology. 2001 September; 98(3): 374-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11530115

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Final height in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the Italian experience. Author(s): Brunelli VL, Russo G, Bertelloni S, Gargantini L, Balducci R, Chiesa L, Livieri C, De Sanctis C, Einaudi S, Virdis R, Saggese G, Chiumello G. Source: J Pediatr Endocrinol Metab. 2003 March; 16 Suppl 2: 277-83. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12729404

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Fluorescent PCR and automated fragment analysis in preimplantation genetic diagnosis for 21-hydroxylase deficiency in congenital adrenal hyperplasia. Author(s): Van de Velde H, Sermon K, De Vos A, Lissens W, Joris H, Vandervorst M, Van Steirteghem A, Liebaers I. Source: Molecular Human Reproduction. 1999 July; 5(7): 691-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10381826

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Flutamide decreases cortisol clearance in patients with congenital adrenal hyperplasia. Author(s): Charmandari E, Calis KA, Keil MF, Mohassel MR, Remaley A, Merke DP. Source: The Journal of Clinical Endocrinology and Metabolism. 2002 July; 87(7): 3197200. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12107224

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Flutamide, testolactone, and reduced hydrocortisone dose maintain normal growth velocity and bone maturation despite elevated androgen levels in children with congenital adrenal hyperplasia. Author(s): Merke DP, Keil MF, Jones JV, Fields J, Hill S, Cutler GB Jr. Source: The Journal of Clinical Endocrinology and Metabolism. 2000 March; 85(3): 111420. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10720048

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Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management. Author(s): Pinto G, Tardy V, Trivin C, Thalassinos C, Lortat-Jacob S, Nihoul-Fekete C, Morel Y, Brauner R. Source: The Journal of Clinical Endocrinology and Metabolism. 2003 June; 88(6): 2624-33. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12788866

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From zero to one hundred million in six months: the treatment of azoospermia in congenital adrenal hyperplasia. Author(s): Nicopoullos JD, Ramsay JW, Cassar J. Source: Archives of Andrology. 2003 July-August; 49(4): 257-63. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12851027

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Functional analysis of four CYP21 mutations from spanish patients with congenital adrenal hyperplasia. Author(s): Nunez BS, Lobato MN, White PC, Meseguer A. Source: Biochemical and Biophysical Research Communications. 1999 September 7; 262(3): 635-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10471376

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Further studies on the treatment of congenital adrenal hyperplasia with cortisone: IV. Effect of cortisone and compound B in infants with disturbed electrolyte metabolism, by John F. Crigler Jr, MD, Samuel H. Silverman, MD, and Lawson Wilkins, MD, Pediatrics, 1952;10:397-413. Author(s): Grumbach MM, Shaw EB. Source: Pediatrics. 1998 July; 102(1 Pt 2): 215-21. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9651433

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Gender and sexuality in classic congenital adrenal hyperplasia. Author(s): Meyer-Bahlburg HF. Source: Endocrinology and Metabolism Clinics of North America. 2001 March; 30(1): 155-71, Viii. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11344934

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Gender assignment in female congenital adrenal hyperplasia. Author(s): Ozbey H. Source: British Journal of Urology. 1998 January; 81(1): 180-1. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9467511

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Gender change from female to male in classical congenital adrenal hyperplasia. Author(s): Meyer-Bahlburg HF, Gruen RS, New MI, Bell JJ, Morishima A, Shimshi M, Bueno Y, Vargas I, Baker SW. Source: Hormones and Behavior. 1996 December; 30(4): 319-32. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9047260

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Gene conversion (655G splicing mutation) and the founder effect (Gln318Stop) contribute to the most frequent severe point mutations in congenital adrenal hyperplasia (21-hydroxylase deficiency) in the Spanish population. Author(s): Ezquieta B, Cueva E, Oyarzabal M, Oliver A, Varela JM, Jariego C. Source: Clinical Genetics. 2002 August; 62(2): 181-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12220458

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General intelligence and cognitive profile in women with congenital adrenal hyperplasia (CAH). Author(s): Helleday J, Bartfai A, Ritzen EM, Forsman M. Source: Psychoneuroendocrinology. 1994; 19(4): 343-56. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8047639

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Genetic aspects of congenital adrenal hyperplasia. Author(s): Dacou-Voutetakis C, Maniati-Christidi M, Dracopoulou-Vabouli M. Source: J Pediatr Endocrinol Metab. 2001; 14 Suppl 5: 1303-8; Discussion 1317. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11964027

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Genetic basis of endocrine disease 2: congenital adrenal hyperplasia due to 21hydroxylase deficiency. Author(s): White PC, New MI. Source: The Journal of Clinical Endocrinology and Metabolism. 1992 January; 74(1): 6-11. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1727830

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Genital sensation after feminizing genitoplasty for congenital adrenal hyperplasia: a pilot study. Author(s): Crouch NS, Minto CL, Laio LM, Woodhouse CR, Creighton SM. Source: Bju International. 2004 January; 93(1): 135-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14678385

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Genotype of classic congenital adrenal hyperplasia and the 60-minute adrenocorticotropic hormone stimulation test. Author(s): Tsai WY, Lee JS, Hsiao PH, Hsieh RP. Source: J Formos Med Assoc. 1995 January-February; 94(1-2): 10-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7613227

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Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21hydroxylase deficiency. Author(s): Speiser PW, New MI, Tannin GM, Pickering D, Yang SY, White PC. Source: Human Genetics. 1992 March; 88(6): 647-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1551668

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Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Author(s): Nordenstrom A, Thilen A, Hagenfeldt L, Larsson A, Wedell A. Source: The Journal of Clinical Endocrinology and Metabolism. 1999 May; 84(5): 1505-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10323369

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Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia. Author(s): Fitness J, Dixit N, Webster D, Torresani T, Pergolizzi R, Speiser PW, Day DJ. Source: The Journal of Clinical Endocrinology and Metabolism. 1999 March; 84(3): 960-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10084579

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Glucocorticoid receptors in patients with congenital adrenal hyperplasia. Author(s): Saka N, Guven M, Bas F, Darendeliler F, Bundak R, Gunoz H, Sultuybek G. Source: J Pediatr Endocrinol Metab. 2000 September-October; 13(8): 1101-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11085188

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Gonadal and adrenal catheterization during adrenal suppression and gonadal stimulation in a patient with bilateral testicular tumors and congenital adrenal hyperplasia. Author(s): Combes-Moukhovsky ME, Kottler ML, Valensi P, Boudou P, Sibony M, Attali JR. Source: The Journal of Clinical Endocrinology and Metabolism. 1994 November; 79(5): 1390-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7962333

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Growth hormone deficiency in salt-losing congenital adrenal hyperplasia. Author(s): Tirendi A, Traggiai C, Conway GS, Stanhope R. Source: European Journal of Pediatrics. 2002 October; 161(10): 556-8. Epub 2002 August 28. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12297904

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Growth hormone therapy alone or in combination with gonadotropin-releasing hormone analog therapy to improve the height deficit in children with congenital adrenal hyperplasia. Author(s): Quintos JB, Vogiatzi MG, Harbison MD, New MI. Source: The Journal of Clinical Endocrinology and Metabolism. 2001 April; 86(4): 1511-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11297576

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Growth pattern during the first 36 months of life in congenital adrenal hyperplasia (21-hydroxylase deficiency). Author(s): Gasparini N, Di Maio S, Salerno M, Argenziano A, Franzese A, Tenore A. Source: Hormone Research. 1997; 47(1): 17-22. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9010713

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Growth patterns and final height in congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency. Results of a multicenter study. Author(s): Hargitai G, Solyom J, Battelino T, Lebl J, Pribilincova Z, Hauspie R, Kovacs J, Waldhauser F, Frisch H; MEWPE-CAH Study Group. Source: Hormone Research. 2001; 55(4): 161-71. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11598369

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Growth patterns and outcomes in congenital adrenal hyperplasia; effect of chronic treatment regimens. Author(s): Rasat R, Espiner EA, Abbott GD. Source: N Z Med J. 1995 August 11; 108(1005): 311-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7644165

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Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis. Author(s): Eugster EA, Dimeglio LA, Wright JC, Freidenberg GR, Seshadri R, Pescovitz OH. Source: The Journal of Pediatrics. 2001 January; 138(1): 26-32. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11148508

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Height, bone mineral density and bone markers in congenital adrenal hyperplasia. Author(s): Paganini C, Radetti G, Livieri C, Braga V, Migliavacca D, Adami S. Source: Hormone Research. 2000; 54(4): 164-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11416232

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Heterogeneity of steroid 21-hydroxylase genes in classical congenital adrenal hyperplasia. Author(s): Dawkins RL, Martin E, Kay PH, Garlepp MJ, Wilton AN, Stuckey MS. Source: J Immunogenet. 1987 April-June; 14(2-3): 89-98. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2891769

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High frequency of congenital adrenal hyperplasia (classic 11 beta-hydroxylase deficiency) among Jews from Morocco. Author(s): Rosler A, Leiberman E, Cohen T. Source: American Journal of Medical Genetics. 1992 April 1; 42(6): 827-34. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1554023

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High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia. Author(s): Stikkelbroeck NM, Otten BJ, Pasic A, Jager GJ, Sweep CG, Noordam K, Hermus AR. Source: The Journal of Clinical Endocrinology and Metabolism. 2001 December; 86(12): 5721-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11739428

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High reliability of neonatal screening for congenital adrenal hyperplasia in Switzerland. Author(s): Steigert M, Schoenle EJ, Biason-Lauber A, Torresani T. Source: The Journal of Clinical Endocrinology and Metabolism. 2002 September; 87(9): 4106-10. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12213856

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High variability of CYP21 gene rearrangements in Spanish patients with classic form of congenital adrenal hyperplasia. Author(s): Lobato MN, Aledo R, Meseguer A. Source: Human Heredity. 1998 July-August; 48(4): 216-25. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9694253

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HLA associations in patients with polycystic ovaries and in patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. Author(s): Hague WM, Adams J, Algar V, Drummond V, Schwarz G, Bottazzo GF, Jacobs HS. Source: Clinical Endocrinology. 1990 April; 32(4): 407-15. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2347091

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Hormonal and genetic analysis of a patient with congenital adrenal hyperplasia. Author(s): Summers RH, Herold DA, Seely BL. Source: Clinical Chemistry. 1996 September; 42(9): 1483-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8787709

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Hormones and handedness: left-hand bias in female congenital adrenal hyperplasia patients. Author(s): Nass R, Baker S, Speiser P, Virdis R, Balsamo A, Cacciari E, Loche A, Dumic M, New M. Source: Neurology. 1987 April; 37(4): 711-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3561787

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How can molecular biology contribute to the management of congenital adrenal hyperplasia? Author(s): Ritzen EM, Lajic S, Wedell A. Source: Hormone Research. 2000; 53 Suppl 1: 34-7. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10895040

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Hydrocortisone suspension and hydrocortisone tablets are not bioequivalent in the treatment of children with congenital adrenal hyperplasia. Author(s): Merke DP, Cho D, Calis KA, Keil MF, Chrousos GP. Source: The Journal of Clinical Endocrinology and Metabolism. 2001 January; 86(1): 4415. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11232038

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Hydrometrocolpos following prenatal dexamethasone treatment for congenital adrenal hyperplasia (21-hydroxylase deficiency). Author(s): Couper JJ, Hutson JM, Warne GL. Source: European Journal of Pediatrics. 1993 January; 152(1): 9-11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8444215

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Hydrops of placental stem villi complicated with fetal congenital adrenal hyperplasia. Author(s): Furuhashi M, Oda H, Nakashima T. Source: Archives of Gynecology and Obstetrics. 2000 September; 264(2): 101-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11045335

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Hyperkalemic distal renal tubular acidosis in salt-losing congenital adrenal hyperplasia. Author(s): Rodriguez-Soriano J, Vallo A, Castillo G, Oliveros R, Fernandez-Garnica JM. Source: Acta Paediatr Scand. 1986 May; 75(3): 425-32. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3088907

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Hypertension in congenital adrenal hyperplasia and apparent mineralocorticoid excess. Author(s): New MI. Source: Annals of the New York Academy of Sciences. 2002 September; 970: 145-54. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12381549

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Hypoglycaemia during illness in children with congenital adrenal hyperplasia. Author(s): Hinde FR, Johnston DI. Source: British Medical Journal (Clinical Research Ed.). 1984 December 8; 289(6458): 1603-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6439337

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Hypoglycemia during illness in children with congenital adrenal hyperplasia. Author(s): McNinch AW, Savage DC. Source: British Medical Journal (Clinical Research Ed.). 1985 January 19; 290(6463): 243. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3917773

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Hypothalamic-pituitary-gonadal axis function in pubertal male and female siblings with glucocorticoid-treated nonsalt-wasting 3 beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia. Author(s): Chang YT, Kulin HE, Garibaldi L, Suriano MJ, Bracki K, Pang S. Source: The Journal of Clinical Endocrinology and Metabolism. 1993 November; 77(5): 1251-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8077318

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Hypothalamic-pituitary-thyroidal axis dysfunction and cortisol secretion in patients with nonclassical congenital adrenal hyperplasia. Author(s): Trakakis E, Chryssikopoulos A, Sarandakou A, Phocas I, Rizos D, Gregoriou O, Kontoravdis A, Creatsas G. Source: Int J Fertil Womens Med. 2001 January-February; 46(1): 37-41. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11296811

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Identification of 17-hydroxyprogesterone and other steroid hormones in saliva from a normal child and patients with congenital adrenal hyperplasia by plasmaspray liquid chromatography/mass spectrometry. Author(s): Shindo N, Yamauchi N, Murayama K, Fairbrother A, Korlik S. Source: Biomedical Chromatography : Bmc. 1990 July; 4(4): 171-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2207381

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Identification of enzyme deficiencies resulting in congenital adrenal hyperplasia. Author(s): Solyom J. Source: Acta Biomed Ateneo Parmense. 1995; 66(3-4): 99-104. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8578942

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Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese. Author(s): Lee HH, Chao HT, Lee YJ, Shu SG, Chao MC, Kuo JM, Chung BC. Source: Human Genetics. 1998 September; 103(3): 304-10. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9799085

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Identification of molecular defects causing congenital adrenal hyperplasia by cloning and differential hybridization of polymerase chain reaction-amplified 21-hydroxylase (CYP21) genes. Author(s): Helmberg A, Tabarelli M, Fuchs MA, Keller E, Dobler G, Schnegg I, Knorr D, Albert E, Kofler R. Source: Dna and Cell Biology. 1992 June; 11(5): 359-68. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1605859

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Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees. Author(s): Day DJ, Speiser PW, Schulze E, Bettendorf M, Fitness J, Barany F, White PC. Source: Human Molecular Genetics. 1996 December; 5(12): 2039-48. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8968761

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Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels. Author(s): Allen DB, Hoffman GL, Fitzpatrick P, Laessig R, Maby S, Slyper A. Source: The Journal of Pediatrics. 1997 January; 130(1): 128-33. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9003862

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Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Author(s): Lacey JM, Minutti CZ, Magera MJ, Tauscher AL, Casetta B, McCann M, Lymp J, Hahn SH, Rinaldo P, Matern D. Source: Clinical Chemistry. 2004 March; 50(3): 621-5. Epub 2003 December 04. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14656905

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Improved test to identify heterozygotes for congenital adrenal hyperplasia without index case examination. Author(s): Peter M, Sippell WG, Lorenzen F, Willig RP, Westphal E, Grosse-Wilde H. Source: Lancet. 1990 June 2; 335(8701): 1296-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1971375

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In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia. Author(s): Rumsby G, Honour JW. Source: Journal of Medical Genetics. 1990 November; 27(11): 676-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2277381

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Inappropriate adrenal androgen secretion with once-a-day corticosteroid therapy for congenital adrenal hyperplasia. Author(s): Keenan BS, Eberle AE, Lin TH, Clayton GW. Source: The Journal of Pediatrics. 1990 January; 116(1): 133-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2153199

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Increased first-trimester nuchal translucency as a prenatal manifestation of saltwasting congenital adrenal hyperplasia. Author(s): Fincham J, Pandya PP, Yuksel B, Loong YM, Shah J. Source: Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology. 2002 October; 20(4): 392-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12383325

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Increased nuchal translucency as a prenatal manifestation of congenital adrenal hyperplasia. Author(s): Masturzo B, Hyett JA, Kalache KD, Rumsby G, Jauniaux E, Rodeck CH. Source: Prenatal Diagnosis. 2001 April; 21(4): 314-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11288125

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Indicators of adult height outcome in classical 21-hydroxylase deficiency congenital adrenal hyperplasia. Author(s): Muirhead S, Sellers EA, Guyda H; Canadian Pediatric Endocrine Group. Source: The Journal of Pediatrics. 2002 August; 141(2): 247-52. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12183722

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Infantile galactosialidosis presenting with congenital adrenal hyperplasia and renal hypertension. Author(s): Kyllerman M, Mansson JE, Westphal O, Conradi N, Nellstrom H. Source: Pediatric Neurology. 1993 July-August; 9(4): 318-22. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8216548

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Infertility in a man with 21-hydroxylase deficient congenital adrenal hyperplasia. Author(s): Mirsky HA, Hines JH. Source: The Journal of Urology. 1989 July; 142(1): 111-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2786575

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Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Author(s): Bachega TA, Billerbeck AE, Marcondes JA, Madureira G, Arnhold IJ, Mendonca BB. Source: Clinical Endocrinology. 2000 May; 52(5): 601-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10792340

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Influence of spironolactone on neonatal screening for congenital adrenal hyperplasia. Author(s): Terai I, Yamano K, Ichihara N, Arai J, Kobayashi K. Source: Archives of Disease in Childhood. Fetal and Neonatal Edition. 1999 November; 81(3): F179-83. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10525019

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Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia. Author(s): Spiro RP, Christian SL, Ledbetter DH, New MI, Wilson RC, Roizen N, Rosenfield RL. Source: Pediatric Research. 1999 November; 46(5): 510-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10541311

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In-utero androgen exposure and 2nd to 4th digit length ratio-comparisons between healthy controls and females with classical congenital adrenal hyperplasia. Author(s): Buck JJ, Williams RM, Hughes IA, Acerini CL. Source: Human Reproduction (Oxford, England). 2003 May; 18(5): 976-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12721171

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Is the inappropriate gonadotropin secretion of patients with polycystic ovary syndrome similar to that of patients with adult-onset congenital adrenal hyperplasia? Author(s): Levin JH, Carmina E, Lobo RA. Source: Fertility and Sterility. 1991 October; 56(4): 635-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1915936

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Kinetics and metabolism of 11-deoxycortisol in a patient with congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. Author(s): Kraan GP, van Wee CJ, Wolthers BG, Rouwe CW, Drayer NM, de Bruin R. Source: The Journal of Steroid Biochemistry and Molecular Biology. 1993 January; 44(1): 29-37. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8424891

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Laparoscopic subtotal hysterectomy and bilateral adnexectomy in a child with congenital adrenal hyperplasia. Author(s): Weiss A, Bustan M, Rakover Y, Shalev E. Source: Fertility and Sterility. 2001 December; 76(6): 1267-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11730764

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Late onset congenital adrenal hyperplasia: a gynecologist's perspective. Author(s): Brodie BL, Wentz AC. Source: Fertility and Sterility. 1987 August; 48(2): 175-88. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3038624

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Late-onset congenital adrenal hyperplasia in a group of hyperandrogenic women. Author(s): Hassiakos DK, Toner JP, Jones GS, Jones HW Jr. Source: Archives of Gynecology and Obstetrics. 1991; 249(4): 165-71. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1665683

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Late-onset congenital adrenal hyperplasia in women with hirsutism. Author(s): Arnaout MA. Source: European Journal of Clinical Investigation. 1992 October; 22(10): 651-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1333959

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Late-onset congenital adrenal hyperplasia. Author(s): Panitsa-Faflia C, Batrinos ML. Source: Annals of the New York Academy of Sciences. 1997 June 17; 816: 230-4. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9238272

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Late-onset congenital adrenal hyperplasia: a treatable cause of anxiety. Author(s): Jacobs AR, Edelheit PB, Coleman AE, Herzog AG. Source: Biological Psychiatry. 1999 September 15; 46(6): 856-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10494456

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Late-onset form of congenital adrenal hyperplasia in the HLA-B14; DR1 haplotype is caused by a duplication in the 21-OH MHC gene region. Author(s): Boehm BO, Rosak C, Kuehnl P, Schoffling K. Source: Hormone and Metabolic Research. Hormon- Und Stoffwechselforschung. Hormones Et Metabolisme. 1986 November; 18(11): 791-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3491779

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Learning disabilities in children with congenital adrenal hyperplasia. Author(s): Nass R, Baker S. Source: Journal of Child Neurology. 1991 October; 6(4): 306-12. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1940131

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Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five middle European countries. Author(s): Kovacs J, Votava F, Heinze G, Solyom J, Lebl J, Pribilincova Z, Frisch H, Battelino T, Waldhauser F; Middle European Workshop on Paediatric EndocrinologyCongenital Adrenal Hyperplasia Study Group. Source: The Journal of Clinical Endocrinology and Metabolism. 2001 July; 86(7): 2958-64. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11443151

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Leydig cell tumors and tumors associated with congenital adrenal hyperplasia. Author(s): Rich MA, Keating MA. Source: The Urologic Clinics of North America. 2000 August; 27(3): 519-28, X. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10985151

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Lipid cell tumor of the ovary in reference to adult-onset congenital adrenal hyperplasia and polycystic ovary syndrome. A case report. Author(s): Rosenfield RL, Cohen RM, Talerman A. Source: J Reprod Med. 1987 May; 32(5): 363-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3598985

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Lipid profile in congenital adrenal hyperplasia. Author(s): Botero D, Arango A, Danon M, Lifshitz F. Source: Metabolism: Clinical and Experimental. 2000 June; 49(6): 790-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10877208

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Lipoid congenital adrenal hyperplasia (CAH): patient report and a mini-review. Author(s): Richmond EJ, Flickinger CJ, McDonald JA, Lovell MA, Rogol AD. Source: Clinical Pediatrics. 2001 July; 40(7): 403-7. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11491137

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Long term outcome in adult males with classic congenital adrenal hyperplasia. Author(s): Cabrera MS, Vogiatzi MG, New MI. Source: The Journal of Clinical Endocrinology and Metabolism. 2001 July; 86(7): 3070-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11443169

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Longer term outcome in females with congenital adrenal hyperplasia (CAH): the Cardiff experience. Author(s): Premawardhana LD, Hughes IA, Read GF, Scanlon MF. Source: Clinical Endocrinology. 1997 March; 46(3): 327-32. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9156043

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Long-term consequences of childhood-onset congenital adrenal hyperplasia. Author(s): White PC, Speiser PW. Source: Best Practice & Research. Clinical Endocrinology & Metabolism. 2002 June; 16(2): 273-88. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12064893

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Long-term follow-up of female patients with congenital adrenal hyperplasia from 21hydroxylase deficiency, with special emphasis on the results of vaginoplasty. Author(s): Krege S, Walz KH, Hauffa BP, Korner I, Rubben H. Source: Bju International. 2000 August; 86(3): 253-8; Discussion 258-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10930925

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Long-term somatic follow-up of prenatally treated children with congenital adrenal hyperplasia. Author(s): Lajic S, Wedell A, Bui TH, Ritzen EM, Holst M. Source: The Journal of Clinical Endocrinology and Metabolism. 1998 November; 83(11): 3872-80. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9814461

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Loss of therapeutic control in congenital adrenal hyperplasia due to interaction between dexamethasone and primidone. Author(s): Young MC, Hughes IA. Source: Acta Paediatr Scand. 1991 January; 80(1): 120-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2028784

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Low frequency of CYP2B deletions in Brazilian patients with congenital adrenal hyperplasia due to 21-hydroxylas deficiency. Author(s): Bachega TA, Billerbeck AE, Madureira G, Arnhold IJ, Medeiros MA, Marcondes JA, Longui CA, Nicolau W, Bloise W, Mendonca BB. Source: Human Heredity. 1999 January; 49(1): 9-14. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10189236

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Magnetic resonance imaging in the congenital adrenal hyperplasia population: increased frequency of white-matter abnormalities and temporal lobe atrophy. Author(s): Nass R, Heier L, Moshang T, Oberfield S, George A, New MI, Speiser PW. Source: Journal of Child Neurology. 1997 April; 12(3): 181-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9130092

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Management of congenital adrenal hyperplasia: results of the ESPE questionnaire. Author(s): Riepe FG, Krone N, Viemann M, Partsch CJ, Sippell WG. Source: Hormone Research. 2002; 58(4): 196-205. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12324719

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Masculinized finger length patterns in human males and females with congenital adrenal hyperplasia. Author(s): Brown WM, Hines M, Fane BA, Breedlove SM. Source: Hormones and Behavior. 2002 December; 42(4): 380-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12488105

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Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore. Author(s): Loke KY, Lee YS, Lee WW, Poh LK. Source: Hormone Research. 2001; 55(4): 179-84. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11598371

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Molecular and structural analysis of two novel StAR mutations in patients with lipoid congenital adrenal hyperplasia. Author(s): Achermann JC, Meeks JJ, Jeffs B, Das U, Clayton PE, Brook CG, Jameson JL. Source: Molecular Genetics and Metabolism. 2001 August; 73(4): 354-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11509019

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Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia. Author(s): Wedell A. Source: Clin Lab Med. 1996 March; 16(1): 125-37. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8867587

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Molecular characterization of mutations in Indian children with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Author(s): Mathur R, Menon PS, Kabra M, Goyal RK, Verma IC. Source: J Pediatr Endocrinol Metab. 2001 January; 14(1): 27-35. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11220701

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Molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia: implications for genetic counseling. Author(s): Speiser PW. Source: American Journal of Pharmacogenomics : Genomics-Related Research in Drug Development and Clinical Practice. 2001; 1(2): 101-10. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12174671

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Molecular identification of combined homozygous and compound heterozygous mutations in the CYP21 gene in simple virilizing congenital adrenal hyperplasia in Taiwan. Author(s): Wang HH, Lee HH, Wu DA, Lee YJ, Chung BC, Wang TR. Source: Acta Paediatr Taiwan. 2003 November-December; 44(6): 339-42. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14983655

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Monitoring of congenital adrenal hyperplasia by microbore HPLC-electrospray ionization tandem mass spectrometry of dried blood spots. Author(s): Lai CC, Tsai CH, Tsai FJ, Wu JY, Lin WD, Lee CC. Source: Clinical Chemistry. 2002 February; 48(2): 354-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11805018

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Monozygotic twins with congenital adrenal hyperplasia: long-term endocrine evaluation and gene analysis. Author(s): AvRuskin TW, Witchel SF, Taha DR, Juan CS. Source: J Pediatr Endocrinol Metab. 2003 April-May; 16(4): 565-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12793610

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Mothers' reactions to prenatal diagnostic procedures and dexamethasone treatment of congenital adrenal hyperplasia. Author(s): Trautman PD, Meyer-Bahlburg HF, Postelnek J, New MI. Source: Journal of Psychosomatic Obstetrics and Gynaecology. 1996 September; 17(3): 175-81. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8892164

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Mothers with congenital adrenal hyperplasia and their children: outcome of pregnancy, birth and childhood. Author(s): Krone N, Wachter I, Stefanidou M, Roscher AA, Schwarz HP. Source: Clinical Endocrinology. 2001 October; 55(4): 523-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11678836

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Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia. Author(s): Krone N, Braun A, Weinert S, Peter M, Roscher AA, Partsch CJ, Sippell WG. Source: Clinical Chemistry. 2002 June; 48(6 Pt 1): 818-25. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12028996

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Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease. Author(s): Dolzan V, Stopar-Obreza M, Zerjav-Tansek M, Breskvar K, Krzisnik C, Battelino T. Source: European Journal of Endocrinology / European Federation of Endocrine Societies. 2003 August; 149(2): 137-44. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12887291

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Neonatal screening for congenital adrenal hyperplasia in Taiwan: a pilot study. Author(s): Chu SY, Tsai WY, Chen LH, Wei ML, Chien YH, Hwu WL. Source: J Formos Med Assoc. 2002 October; 101(10): 691-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12517042

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Neonatal screening program for congenital adrenal hyperplasia: adjustments to the recall protocol. Author(s): Gruneiro-Papendieck L, Prieto L, Chiesa A, Bengolea S, Bossi G, Bergada C. Source: Hormone Research. 2001; 55(6): 271-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11805430

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New approaches to the treatment of congenital adrenal hyperplasia. Author(s): Merke DP, Cutler GB Jr. Source: Jama : the Journal of the American Medical Association. 1997 April 2; 277(13): 1073-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9091697

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Newborn screening for congenital adrenal hyperplasia in the Netherlands. Author(s): Van der Kamp HJ, Noordam K, Elvers B, Van Baarle M, Otten BJ, Verkerk PH. Source: Pediatrics. 2001 December; 108(6): 1320-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11731654

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Newborn screening for congenital adrenal hyperplasia. Author(s): Pang S. Source: Pediatric Annals. 2003 August; 32(8): 516-23. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12942894

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NIH conference. Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Author(s): Merke DP, Bornstein SR, Avila NA, Chrousos GP. Source: Annals of Internal Medicine. 2002 February 19; 136(4): 320-34. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11848730

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Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: a feasibility study. Author(s): Chiu RW, Lau TK, Cheung PT, Gong ZQ, Leung TN, Lo YM. Source: Clinical Chemistry. 2002 May; 48(5): 778-80. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11978609

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Normal bone mineral density and lean body mass, but increased fat mass, in young adult patients with congenital adrenal hyperplasia. Author(s): Stikkelbroeck NM, Oyen WJ, van der Wilt GJ, Hermus AR, Otten BJ. Source: The Journal of Clinical Endocrinology and Metabolism. 2003 March; 88(3): 103642. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12629082

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Novel basic and clinical aspects of congenital adrenal hyperplasia. Author(s): Merke DP, Camacho CA. Source: Reviews in Endocrine & Metabolic Disorders. 2001 August; 2(3): 289-96. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11705134

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Novel nonsense mutation (W302X) in the steroid 21-hydroxylase gene of a Finnish patient with the salt-wasting form of congenital adrenal hyperplasia. Author(s): Levo A, Partanen J. Source: Human Mutation. 1997; 9(4): 363-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9101299

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Oestrogens in congenital adrenal hyperplasia. Author(s): Goldzieher JW. Source: Acta Endocrinol (Copenh). 1967 January; 54(1): 51-62. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4289300

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On the metabolism of 16-alpha-hydroxy-C21-steroids. 3. Evidence for high rates of production of 16-alpha-hydroxyprogesterone and 16-alpha-hydroxypregnenolone in the salt-losing form of congenital adrenal hyperplasia. Author(s): Janoski AH, Roginsky MS, Christy NP, Kelly WG. Source: The Journal of Clinical Endocrinology and Metabolism. 1969 October; 29(10): 1301-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5353660

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On the prenatal diagnosis of congenital adrenal hyperplasia (CAH) by measurement of amniotic fluid 17-alpha-hydroxyprogesterone, aldosterone and cortisol. Author(s): Grankvist K, Backstrom BT, Gustavsson G, Holmgren G. Source: Acta Obstetricia Et Gynecologica Scandinavica. 1989; 68(1): 71-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2801032

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One-stage complete genital reconstruction for patients with congenital adrenal hyperplasia. Author(s): Bissada NK, Sakati N, Woodhouse NJ, Morcos RR. Source: The Journal of Urology. 1987 April; 137(4): 703-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3560326

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Organic affective disorder in a patient with congenital adrenal hyperplasia. Author(s): Feldman SR, Krishnan KR, McPherson H, Meglin DE. Source: Biological Psychiatry. 1987 June; 22(6): 767-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3593815

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Osteocalcin in congenital adrenal hyperplasia. Author(s): Lisa L, Neradilova M, Tomasova N, Soutorova M, Zimak J. Source: Bone. 1995 January; 16(1): 57-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7742084

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Outcome of congenital adrenal hyperplasia. Author(s): Kuhnle U, Bullinger M. Source: Pediatric Surgery International. 1997 September; 12(7): 511-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9238119

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Ovarian adrenal-like tissue in congenital adrenal hyperplasia. Author(s): Russo G, Paesano P, Taccagni G, Del Maschio A, Chiumello G. Source: The New England Journal of Medicine. 1998 September 17; 339(12): 853-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9750088

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Ovarian suppression reduces clinical and endocrine expression of late-onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Author(s): Carmina E, Lobo RA. Source: Fertility and Sterility. 1994 October; 62(4): 738-43. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7926082

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Overdiagnosis of 21-hydroxylase late onset congenital adrenal hyperplasia: correlation of corticotropin test and human leukocyte antigen typing. Author(s): Avivi I, Pollack S, Gideoni O, Linn S, Blumenfeld Z. Source: Fertility and Sterility. 1996 October; 66(4): 557-63. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8816616

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Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glucose elevation in response to high-intensity exercise. Author(s): Weise M, Mehlinger SL, Drinkard B, Rawson E, Charmandari E, Hiroi M, Eisenhofer G, Yanovski JA, Chrousos GP, Merke DP. Source: The Journal of Clinical Endocrinology and Metabolism. 2004 February; 89(2): 591-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14764767

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Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia. Author(s): Torres N, Mello MP, Germano CM, Elias LL, Moreira AC, Castro M. Source: Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas / Sociedade Brasileira De Biofisica. [et Al.]. 2003 October; 36(10): 1311-8. Epub 2003 September 16. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14502362

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Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Author(s): Miller WL. Source: The Journal of Clinical Endocrinology and Metabolism. 1997 April; 82(4): 1304. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9100612

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Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Author(s): Witchel SF, Bhamidipati DK, Hoffman EP, Cohen JB. Source: The Journal of Clinical Endocrinology and Metabolism. 1996 November; 81(11): 4081-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8923864

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Pitfall of newborn screening for congenital adrenal hyperplasia due to 21hydroxylase deficiency. Author(s): Rohrer TR, Gassmann KF, Pavel ME, Dorr HG. Source: Biology of the Neonate. 2003; 83(1): 65-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12566686

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Plasma 3 alpha-androstanediol glucuronide in normal children and in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Author(s): Lopes LA, Catzeflis C, Cicotti I, Rey C, Sizonenko PC. Source: Hormone Research. 1997; 48(1): 35-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9195208

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Pregnancies in patients with congenital adrenal hyperplasia with complete or almost complete impairment of 21-hydroxylase activity. Author(s): Hoepffner W, Schulze E, Bennek J, Keller E, Willgerodt H. Source: Fertility and Sterility. 2004 May; 81(5): 1314-21. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=15136096

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Prenatal androgenization affects gender-related behavior but not gender identity in 512-year-old girls with congenital adrenal hyperplasia. Author(s): Meyer-Bahlburg HF, Dolezal C, Baker SW, Carlson AD, Obeid JS, New MI. Source: Archives of Sexual Behavior. 2004 April; 33(2): 97-104. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=15146142

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Prenatal androgens and gender-typed behavior: a study of girls with mild and severe forms of congenital adrenal hyperplasia. Author(s): Servin A, Nordenstrom A, Larsson A, Bohlin G. Source: Developmental Psychology. 2003 May; 39(3): 440-50. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12760514

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Psychosexual development of women with congenital adrenal hyperplasia. Author(s): Zucker KJ, Bradley SJ, Oliver G, Blake J, Fleming S, Hood J. Source: Hormones and Behavior. 1996 December; 30(4): 300-18. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9047259

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Randomised controlled trial of growth effect of hydrocortisone in congenital adrenal hyperplasia. Author(s): Silva IN, Kater CE, Cunha CF, Viana MB. Source: Archives of Disease in Childhood. 1997 September; 77(3): 214-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9370898

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Rapid monitoring assay of congenital adrenal hyperplasia with microbore highperformance liquid chromatography/electrospray ionization tandem mass spectrometry from dried blood spots. Author(s): Lai CC, Tsai CH, Tsai FJ, Lee CC, Lin WD. Source: Rapid Communications in Mass Spectrometry : Rcm. 2001; 15(22): 2145-51. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11746879

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Rapid occurrence of thelarche and menarche induced by hydrocortisone in a teenage girl with previously untreated congenital adrenal hyperplasia. Author(s): Schwarz HP, Jocham A, Kuhnle U. Source: European Journal of Pediatrics. 1995 August; 154(8): 617-20. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7588959

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Rapid screening assay of congenital adrenal hyperplasia by measuring 17 alphahydroxyprogesterone with high-performance liquid chromatography/electrospray ionization tandem mass spectrometry from dried blood spots. Author(s): Lai CC, Tsai CH, Tsai FJ, Wu JY, Lin WD, Lee CC. Source: Journal of Clinical Laboratory Analysis. 2002; 16(1): 20-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11835526

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Reduced maternal dexamethasone dosage for the prenatal treatment of congenital adrenal hyperplasia. Author(s): Coleman MA, Honour JW. Source: Bjog : an International Journal of Obstetrics and Gynaecology. 2004 February; 111(2): 176-8. Erratum In: Bjog. 2004 April; 111(4): 393. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14723758

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Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia. Author(s): Therrell BL Jr, Berenbaum SA, Manter-Kapanke V, Simmank J, Korman K, Prentice L, Gonzalez J, Gunn S. Source: Pediatrics. 1998 April; 101(4 Pt 1): 583-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9521938

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Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. Author(s): Yang YP, Corley N, Garcia-Heras J. Source: Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology. 2001 September; 6(3): 193-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11571713

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Reversed-phase high-performance liquid chromatography separation of adrenal steroids prior to radioimmunoassay: application in congenital adrenal hyperplasia. Author(s): Fernandes VT, Ribeiro-Neto LM, Lima SB, Vieira JG, Verreschi IT, Kater CE. Source: Journal of Chromatographic Science. 2003 May-June; 41(5): 251-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12841953

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Reversible cardiomyopathy in an infant with unrecognized congenital adrenal hyperplasia. Author(s): Boston BA, DeGroff C, Hanna CE, Reller M. Source: The Journal of Pediatrics. 1994 June; 124(6): 936-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8201481

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Reversible infertility, pharmaceutical and spontaneous, in a male with late onset congenital adrenal hyperplasia, due to 21-hydroxylase deficiency. Author(s): Kalachanis I, Rousso D, Kourtis A, Goutzioulis F, Makedos G, Panidis D. Source: Archives of Andrology. 2002 January-February; 48(1): 37-41. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11789681

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Salt losing nephropathy simulating congenital adrenal hyperplasia in an infant. Author(s): Kari JA, Bamashmous HA, Al-Agha AE, Mosli HA. Source: Saudi Med J. 2002 July; 23(7): 863-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12174243

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Salt wasting in simple virilizing congenital adrenal hyperplasia. Author(s): Frisch H, Battelino T, Schober E, Baumgartner-Parzer S, Nowotny P, Vierhapper H. Source: J Pediatr Endocrinol Metab. 2001 November-December; 14(9): 1649-55. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11795656

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Screening for congenital adrenal hyperplasia: adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value. Author(s): Olgemoller B, Roscher AA, Liebl B, Fingerhut R. Source: The Journal of Clinical Endocrinology and Metabolism. 2003 December; 88(12): 5790-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14671170

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Serum cortisol and 17-hydroxyprogesterone concentrations in children with classic congenital adrenal hyperplasia. Author(s): Rosenfield RL. Source: The Journal of Clinical Endocrinology and Metabolism. 2002 June; 87(6): 2993; Author Reply 2993. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12050289

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Sex-typed toy play behavior correlates with the degree of prenatal androgen exposure assessed by CYP21 genotype in girls with congenital adrenal hyperplasia. Author(s): Nordenstrom A, Servin A, Bohlin G, Larsson A, Wedell A. Source: The Journal of Clinical Endocrinology and Metabolism. 2002 November; 87(11): 5119-24. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12414881

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Sexual function and fertility in adult females and males with congenital adrenal hyperplasia. Author(s): Jaaskelainen J, Tiitinen A, Voutilainen R. Source: Hormone Research. 2001; 56(3-4): 73-80. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11847466

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Sonographic appearance of congenital adrenal hyperplasia in utero. Author(s): Chambrier ED, Heinrichs C, Avni FE. Source: Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine. 2002 January; 21(1): 97-100. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11794409

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Sonographic findings in infants with congenital adrenal hyperplasia. Author(s): Hernanz-Schulman M, Brock JW 3rd, Russell W. Source: Pediatric Radiology. 2002 February; 32(2): 130-7. Epub 2001 November 29. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11819084

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Sonography of congenital adrenal hyperplasia due to partial deficiency of 3betahydroxysteroid dehydrogenase: a case report. Author(s): Bentsen D, Schwartz DS, Carpenter TO. Source: Pediatric Radiology. 1997 July; 27(7): 594-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9211955

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Spatial abilities following prenatal androgen abnormality: targeting and mental rotations performance in individuals with congenital adrenal hyperplasia. Author(s): Hines M, Fane BA, Pasterski VL, Mathews GA, Conway GS, Brook C. Source: Psychoneuroendocrinology. 2003 November; 28(8): 1010-26. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14529705

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Testicular adrenal rest tumours in postpubertal males with congenital adrenal hyperplasia: sonographic and MR features. Author(s): Stikkelbroeck NM, Suliman HM, Otten BJ, Hermus AR, Blickman JG, Jager GJ. Source: European Radiology. 2003 July; 13(7): 1597-603. Epub 2003 January 18. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12835972

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The long term outcome of feminizing genital surgery for congenital adrenal hyperplasia: anatomical, functional and cosmetic outcomes, psychosexual development, and satisfaction in adult female patients. Author(s): Stikkelbroeck NM, Beerendonk CC, Willemsen WN, Schreuders-Bais CA, Feitz WF, Rieu PN, Hermus AR, Otten BJ. Source: Journal of Pediatric and Adolescent Gynecology. 2003 October; 16(5): 289-96. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14597017

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The quality of life in adult female patients with congenital adrenal hyperplasia: a comprehensive study of the impact of genital malformations and chronic disease on female patients life. Author(s): van der Kamp HJ, Slijper FM. Source: European Journal of Pediatrics. 1996 July; 155(7): 620-1. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8831091

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The role of bilateral adrenalectomy in the treatment of congenital adrenal hyperplasia. Author(s): Van Wyk JJ, Ritzen EM. Source: The Journal of Clinical Endocrinology and Metabolism. 2003 July; 88(7): 2993-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12843131

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The use of adrenalectomy as a treatment for congenital adrenal hyperplasia. Author(s): Van Wyk JJ, Gunther DF, Ritzen EM, Wedell A, Cutler GB Jr, Migeon CJ, New MI. Source: The Journal of Clinical Endocrinology and Metabolism. 1996 September; 81(9): 3180-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8784066

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Thrombocytosis in congenital adrenal hyperplasia at diagnosis. Author(s): Yohannan MD, Santhosh-Kumar CR. Source: Clinical Pediatrics. 1997 March; 36(3): 186. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9078424

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Thrombocytosis in congenital adrenal hyperplasia at diagnosis. Author(s): Gasparini N, Franzese A, Argenziano A, Di Maio S, Tenore A. Source: Clinical Pediatrics. 1996 May; 35(5): 267-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8804546

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Treatment of adult patients with congenital adrenal hyperplasia due to 21hydroxylase deficiency: a clinical practice audit. Author(s): Li HY, Dahir KM, Blevins LS Jr. Source: Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists. 2003 September-October; 9(5): 347-52. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14583416

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Treatment-induced hypoandrogenism in childhood and puberty in females with virilizing (21-hydroxylase deficiency) congenital adrenal hyperplasia. Author(s): New MI. Source: The Journal of Endocrinology. 1996 September; 150 Suppl: S31-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8943784

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Twenty years experience in rapid identification of congenital adrenal hyperplasia in Hungary. Author(s): Torok D, Eckhardt G, Solyom J. Source: European Journal of Pediatrics. 2003 December; 162(12): 844-9. Epub 2003 September 30. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14648216

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Ultrasound findings in the adreno-genital syndrome (congenital adrenal hyperplasia). Author(s): Bryan PJ, Caldamone AA, Morrison SC, Yulish BS, Owens R. Source: Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine. 1988 December; 7(12): 675-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3070057

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Unequal crossing-over between aldosterone synthase and 11beta-hydroxylase genes causes congenital adrenal hyperplasia. Author(s): Hampf M, Dao NT, Hoan NT, Bernhardt R. Source: The Journal of Clinical Endocrinology and Metabolism. 2001 September; 86(9): 4445-52. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11549691

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Unresolved problems in the treatment of congenital adrenal hyperplasia. Author(s): Tanae A, Hibi I. Source: Acta Paediatr Jpn. 1988; 30 Suppl: 93-8. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3146884

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Unsuspected mutation in a family with congenital adrenal hyperplasia. Author(s): Oriola J, Pavia C. Source: American Journal of Medical Genetics. 1997 August 8; 71(2): 249-50. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9217236

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Untreated congenital adrenal hyperplasia presenting with severe androgenic alopecia. Author(s): O'Driscoll JB, Anderson DC. Source: Journal of the Royal Society of Medicine. 1993 April; 86(4): 229. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8505734

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Urinary 5-ene-steroid excretion in non-classical congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency (NC-3BHSD). Author(s): Whorwood CB, Montalto J, Sandars SR, Connelly JF. Source: J Steroid Biochem. 1990 May; 35(6): 735-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2362435

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Urinary excretion of 17-hydroxypregnanolones in patients with different forms of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Author(s): Homoki J, Solyom J, Wachter U, Teller WM. Source: European Journal of Pediatrics. 1992 January; 151(1): 24-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1728539

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Urinoma of the fallopian tube in virilizing congenital adrenal hyperplasia. Author(s): Kaufman FR, Hardy BE, Law BS, Costin G. Source: The Journal of Pediatrics. 1986 September; 109(3): 495-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3746540

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Urosepsis in infants with vesicoureteral reflux masquerading as the salt-losing type of congenital adrenal hyperplasia. Author(s): Vaid YN, Lebowitz RL. Source: Pediatric Radiology. 1989; 19(8): 548-50. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2677949

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Use of TaqI digestion may lead to incorrect molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Author(s): Lee HH, de Wijs IJ, Sistermans EA. Source: Molecular Genetics and Metabolism. 2000 August; 70(4): 322-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10993720

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Vaccine tolerance in steroid substituted patients with congenital adrenal hyperplasia. Author(s): Weiss M, Dorr HG, Brandmaier R, Schwarz HP, Belohradsky BH. Source: European Journal of Medical Research. 1997 July 28; 2(7): 290-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9233902

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Vaginal agenesis and congenital adrenal hyperplasia. Psychosocial sequelae of diagnosis and neovagina formation. Author(s): Langer M, Grunberger W, Ringler M. Source: Acta Obstetricia Et Gynecologica Scandinavica. 1990; 69(4): 343-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2244467

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Vaginal reconstruction in congenital adrenal hyperplasia. Author(s): Tummon IS. Source: Fertility and Sterility. 1987 June; 47(6): 1043. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3595898

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Value of direct measurement of active renin concentrations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Author(s): Kruger C, Hoper K, Weissortel R, Hensen J, Dorr HG. Source: European Journal of Pediatrics. 1996 October; 155(10): 858-61. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8891554

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Value of selective screening for congenital adrenal hyperplasia in Hungary. Author(s): Solyom J, Hughes IA. Source: Archives of Disease in Childhood. 1989 March; 64(3): 338-42. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2705794

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Variable efficacy of glucocorticoids in congenital adrenal hyperplasia. Author(s): Hansen JW, Loriaux DL. Source: Pediatrics. 1976 June; 57(6): 942-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=934750

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Ventricular tachycardia in congenital adrenal hyperplasia. Author(s): Virdi VS, Bharti B, Poddar B, Basu S, Parmar VR. Source: Anaesthesia and Intensive Care. 2002 June; 30(3): 380-1. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12075652

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Virilizing adrenal tumour mimicking congenital adrenal hyperplasia with P450c11 (11 beta-hydroxylase) deficiency. Author(s): Werder EA, Voutilainen R, Zachmann M. Source: European Journal of Pediatrics. 1994 June; 153(6): 411-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8088295

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Virilizing adrenocortical carcinoma. Development in a patient with salt-losing congenital adrenal hyperplasia. Author(s): Bauman A, Bauman CG. Source: Jama : the Journal of the American Medical Association. 1982 December 17; 248(23): 3140-1. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7143691

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Virilizing congenital adrenal hyperplasia with normal dehydroepiandrosterone sulfate. Author(s): Check JH, Krotec JW. Source: American Journal of Obstetrics and Gynecology. 1983 December 15; 147(8): 9723. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6228147

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What causes low rates of child-bearing in congenital adrenal hyperplasia? Author(s): Meyer-Bahlburg HF. Source: The Journal of Clinical Endocrinology and Metabolism. 1999 June; 84(6): 1844-7. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10372672

•

Why is management of patients with classical congenital adrenal hyperplasia more difficult at puberty? Author(s): Charmandari E, Brook CG, Hindmarsh PC. Source: Archives of Disease in Childhood. 2002 April; 86(4): 266-9. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11919101

•

Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Author(s): Pang SY, Wallace MA, Hofman L, Thuline HC, Dorche C, Lyon IC, Dobbins RH, Kling S, Fujieda K, Suwa S. Source: Pediatrics. 1988 June; 81(6): 866-74. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3259306

•

XO-XX-XXX mosaicism with possible congenital adrenal hyperplasia. Author(s): Edwards JA, Vance VK, Cohen MM, Schussler GC. Source: The Journal of Clinical Endocrinology and Metabolism. 1970 May; 30(5): 666-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4315483

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•


Zona glomerulosa function after life-long suppression in two siblings with the hypertensive virilizing form of congenital adrenal hyperplasia. Author(s): Rodriguez Portales JA, Arteaga E, Lopez Moreno JM, Biglieri EG. Source: The Journal of Clinical Endocrinology and Metabolism. 1988 February; 66(2): 349-54. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3276723

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CHAPTER 2. NUTRITION AND CONGENITAL ADRENAL HYPERPLASIA Overview In this chapter, we will show you how to find studies dedicated specifically to nutrition and congenital adrenal hyperplasia.

Finding Nutrition Studies on Congenital Adrenal Hyperplasia The National Institutes of Health’s Office of Dietary Supplements (ODS) offers a searchable bibliographic database called the IBIDS (International Bibliographic Information on Dietary Supplements; National Institutes of Health, Building 31, Room 1B29, 31 Center Drive, MSC 2086, Bethesda, Maryland 20892-2086, Tel: 301-435-2920, Fax: 301-480-1845, E-mail: [email protected]). The IBIDS contains over 460,000 scientific citations and summaries about dietary supplements and nutrition as well as references to published international, scientific literature on dietary supplements such as vitamins, minerals, and botanicals.7 The IBIDS includes references and citations to both human and animal research studies. As a service of the ODS, access to the IBIDS database is available free of charge at the following Web address: http://ods.od.nih.gov/databases/ibids.html. After entering the search area, you have three choices: (1) IBIDS Consumer Database, (2) Full IBIDS Database, or (3) Peer Reviewed Citations Only. Now that you have selected a database, click on the “Advanced” tab. An advanced search allows you to retrieve up to 100 fully explained references in a comprehensive format. Type “congenital adrenal hyperplasia” (or synonyms) into the search box, and click “Go.” To narrow the search, you can also select the “Title” field.

7

Adapted from http://ods.od.nih.gov. IBIDS is produced by the Office of Dietary Supplements (ODS) at the National Institutes of Health to assist the public, healthcare providers, educators, and researchers in locating credible, scientific information on dietary supplements. IBIDS was developed and will be maintained through an interagency partnership with the Food and Nutrition Information Center of the National Agricultural Library, U.S. Department of Agriculture.

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The following information is typical of that found when using the “Full IBIDS Database” to search for “congenital adrenal hyperplasia” (or a synonym): •

A possible defect in the inter-conversion between cortisone and cortisol in prepubertal patients with congenital adrenal hyperplasia receiving cortisone acetate therapy. Author(s): Department of Clinical Biochemistry, Royal Children's Hospital, Parkville, Victoria, Australia. Source: Whorwood, C B Warne, G L J-Steroid-Biochem-Mol-Biol. 1991 October; 39(4A): 461-70 0960-0760

•

Aldosterone synthesis in salt-wasting congenital adrenal hyperplasia with complete absence of adrenal 21-hydroxylase. Author(s): Department of Pediatrics, New York Hospital-Cornell Medical Center, NY 10021. Source: Speiser, P W Agdere, L Ueshiba, H White, P C New, M I N-Engl-J-Med. 1991 January 17; 324(3): 145-9 0028-4793

•

Auxological and biochemical parameters in assessing treatment of infants and toddlers with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Author(s): Department of Pediatric Endocrinology, Regina Margherita Children's Hospital, Turin, Italy. Source: Einaudi, S Lala, R Corrias, A Matarazzo, P Pagliardini, S de Sanctis, C J-PediatrEndocrinol. 1993 Apr-June; 6(2): 173-8 0334-018X

•

Changes in leptin and testosterone levels in a girl with congenital adrenal hyperplasia during hydrocortisone therapy. Author(s): Department of Pediatrics, Tokyo Women's Medical University, Daini Hospital, Tokyo, Japan. [email protected] Source: Matsuoka, H Shamoto, N Kikuoka, N Sugihara, S Murata, M Pediatr-Int. 2001 April; 43(2): 185-7 1328-8067

•

CNS germinoma in a boy with simple virilizing 21-hydroxylase deficiency and precocious puberty. Author(s): Department of Pediatrics, All India Institute of Medical Sciences, New Delhi. Source: Bajpai, A Singhal, T Kabra, M Menon, P S J-Pediatr-Endocrinol-Metab. 2002 March; 15(3): 335-7

•

Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Source: J-Clin-Endocrinol-Metab. 2002 September; 87(9): 4048-53 0021-972X

•

Failure of cortisone acetate therapy in 21-hydroxylase deficiency in early infancy. Author(s): Department of Pediatrics, Hiroshima General Hospital of West Japan Railway Company, Hiroshima, Japan. [email protected] Source: Jinno, K Sakura, N Nomura, S Fujitaka, M Ueda, K Kihara, M Pediatr-Int. 2001 October; 43(5): 478-82 1328-8067

•

Longitudinal analysis of growth and puberty in 21-hydroxylase deficiency patients. Author(s): Department of Paediatrics, Leiden University Medical Center, Leiden, Netherlands. [email protected] Source: Van der Kamp, H J Otten, B J Buitenweg, N De Muinck Keizer Schrama, S M P F Oostdijk, W Jansen, M Delemarre de Waal, H A Vulsma, T Wit, J M Arch-Dis-Child. 2002 August; 87(2): 139-44 1468-2044

Nutrition

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•

Macronodular congenital adrenal hyperplasia in an adult with female pseudohermaphroditism. Author(s): Department of Diagnostic Radiology, Hope Hospital, Salford Royal NHS Trust, United Kingdom. Source: Norris, A M O'Driscoll, J B Mamtora, H Eur-Radiol. 1996; 6(4): 470-2 0938-7994

•

Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Author(s): Department of Medicine, University of California, San Francisco 94143, USA. [email protected] Source: Lo, J C Schwitzgebel, V M Tyrrell, J B Fitzgerald, P A Kaplan, S L Conte, F A Grumbach, M M J-Clin-Endocrinol-Metab. 1999 March; 84(3): 930-6 0021-972X

•

Oral hydrocortisone administration in children with classic 21-hydroxylase deficiency leads to more synchronous joint GH and cortisol secretion. Author(s): London Center for Pediatric Endocrinology, University College London, London, W1T 3AA, United Kingdom. [email protected] Source: Charmandari, Evangelia Pincus, Steven M Matthews, David R Johnston, Atholl Brook, Charles G D Hindmarsh, Peter C J-Clin-Endocrinol-Metab. 2002 May; 87(5): 223844 0021-972X

•

Response to treatment of congenital adrenal hyperplasia in infancy. Author(s): Department of Child Health, University of Wales College of Medicine, Heath Park, Cardiff. Source: Young, M C Hughes, I A Arch-Dis-Child. 1990 April; 65(4): 441-4 0003-9888

•

Serum 3 alpha-androstanediol glucuronide measurements in sexually mature women with congenital adrenal hyperplasia during therapy. Author(s): Division of Pediatric Endocrinology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205. Source: Reiner, B J Donohoue, P A Migeon, C J Berkovitz, G D J-Clin-Endocrinol-Metab. 1989 July; 69(1): 105-9 0021-972X

•

Siblings of 21-hydroxylase deficiency (non-salt-losing) with aldosterone hypersecretion. Author(s): First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan. Source: Morimoto, I Yamamoto, S Tateishi, H Ueda, S Toda, Y Zeki, K Watanabe, K Nakano, Y Kashimura, M Eto, S Intern-Med. 1992 May; 31(5): 690-4 0918-2918

•

Spinal anesthesia for an infant with congenital adrenal hyperplasia undergoing genitoplasty. Author(s): Department of Anesthesiology, Ibaraki Children's Hospital, Mito, Japan. Source: Yamashita, M Middle-East-J-Anesthesiol. 1989 June; 10(2): 211-4 0544-0440

•

The management of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Author(s): Endocrine Unit, Middlesex Hospital, London, UK. Source: Brook, C G Clin-Endocrinol-(Oxf). 1990 October; 33(4): 559-67 0300-0664

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Federal Resources on Nutrition In addition to the IBIDS, the United States Department of Health and Human Services (HHS) and the United States Department of Agriculture (USDA) provide many sources of information on general nutrition and health. Recommended resources include: •

healthfinder®, HHS’s gateway to health information, including diet and nutrition: http://www.healthfinder.gov/scripts/SearchContext.asp?topic=238&page=0

•

The United States Department of Agriculture’s Web site dedicated to nutrition information: www.nutrition.gov

•

The Food and Drug Administration’s Web site for federal food safety information: www.foodsafety.gov

•

The National Action Plan on Overweight and Obesity sponsored by the United States Surgeon General: http://www.surgeongeneral.gov/topics/obesity/

•

The Center for Food Safety and Applied Nutrition has an Internet site sponsored by the Food and Drug Administration and the Department of Health and Human Services: http://vm.cfsan.fda.gov/

•

Center for Nutrition Policy and Promotion sponsored by the United States Department of Agriculture: http://www.usda.gov/cnpp/

•

Food and Nutrition Information Center, National Agricultural Library sponsored by the United States Department of Agriculture: http://www.nal.usda.gov/fnic/

•

Food and Nutrition Service sponsored by the United States Department of Agriculture: http://www.fns.usda.gov/fns/

Additional Web Resources A number of additional Web sites offer encyclopedic information covering food and nutrition. The following is a representative sample: •

AOL: http://search.aol.com/cat.adp?id=174&layer=&from=subcats

•

Family Village: http://www.familyvillage.wisc.edu/med_nutrition.html

•

Google: http://directory.google.com/Top/Health/Nutrition/

•

Healthnotes: http://www.healthnotes.com/

•

Open Directory Project: http://dmoz.org/Health/Nutrition/

•

Yahoo.com: http://dir.yahoo.com/Health/Nutrition/

•

WebMD®Health: http://my.webmd.com/nutrition

•

WholeHealthMD.com: http://www.wholehealthmd.com/reflib/0,1529,00.html

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CHAPTER 3. ALTERNATIVE MEDICINE AND CONGENITAL ADRENAL HYPERPLASIA Overview In this chapter, we will begin by introducing you to official information sources on complementary and alternative medicine (CAM) relating to congenital adrenal hyperplasia. At the conclusion of this chapter, we will provide additional sources.

National Center for Complementary and Alternative Medicine The National Center for Complementary and Alternative Medicine (NCCAM) of the National Institutes of Health (http://nccam.nih.gov/) has created a link to the National Library of Medicine’s databases to facilitate research for articles that specifically relate to congenital adrenal hyperplasia and complementary medicine. To search the database, go to the following Web site: http://www.nlm.nih.gov/nccam/camonpubmed.html. Select “CAM on PubMed.” Enter “congenital adrenal hyperplasia” (or synonyms) into the search box. Click “Go.” The following references provide information on particular aspects of complementary and alternative medicine that are related to congenital adrenal hyperplasia: •

Ambiguous genitalia: medical, socio-cultural and religious factors affecting management in Saudi Arabia. Author(s): Abdullah MA, Katugampola M, al-Habib S, al-Jurayyan N, al-Samarrai A, AlNuaim A, Patel PJ, Niazi M. Source: Annals of Tropical Paediatrics. 1991; 11(4): 343-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1721791

•

Capillary zone electrophoresis in polymer networks of polymerase chain reactionamplified oligonucleotides: the case of congenital adrenal hyperplasia. Author(s): Gelfi C, Orsi A, Righetti PG, Zanussi M, Carrera P, Ferrari M. Source: Journal of Chromatography. B, Biomedical Applications. 1994 July 1; 657(1): 2015. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7952069

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•

Dyspareunia of vulvo-vaginal origin. Causes and management. Author(s): Huffman JW. Source: Postgraduate Medicine. 1983 February; 73(2): 287-96. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6823460

•

Frequency of a polymorphism in the regulatory region of the 17 alpha-hydroxylase17,20-lyase (CYP17) gene in hyperandrogenic states. Author(s): Techatraisak K, Conway GS, Rumsby G. Source: Clinical Endocrinology. 1997 February; 46(2): 131-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9135692

•

Genital surgery among females with congenital adrenal hyperplasia: changes over the past five decades. Author(s): Lee PA, Witchel SF. Source: J Pediatr Endocrinol Metab. 2002 November-December; 15(9): 1473-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12503853

•

Inherited diseases in North American Mennonites: focus on Old Colony (Chortitza) Mennonites. Author(s): Jaworski MA, Severini A, Mansour G, Hennig K, Slater JD, Jeske R, Schlaut J, Yoon JW, Maclaren NK, Nepom GT. Source: American Journal of Medical Genetics. 1989 February; 32(2): 158-68. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2784628

•

Licorice-induced hypertension and syndromes of apparent mineralocorticoid excess. Author(s): Walker BR, Edwards CR. Source: Endocrinology and Metabolism Clinics of North America. 1994 June; 23(2): 35977. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8070427

•

Mass spectrometry in the diagnosis of steroid-related disorders and in hypertension research. Author(s): Shackleton CH. Source: The Journal of Steroid Biochemistry and Molecular Biology. 1993 April; 45(1-3): 127-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8481337

•

My engagement with steroids: a review. Author(s): Biglieri EG. Source: Steroids. 1995 January; 60(1): 52-8. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7792816

Alternative Medicine 69

•

Pediatric sexology and hermaphroditism. Author(s): Money J. Source: Journal of Sex & Marital Therapy. 1985 Fall; 11(3): 139-56. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4068042

•

Surgical management of ambiguous genitalia. Author(s): Rangecroft L; British Association of Paediatric Surgeons Working Party on the Surgical Management of Children Born With Ambiguous Genitalia. Source: Archives of Disease in Childhood. 2003 September; 88(9): 799-801. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12937103

•

The cytology of amenorrhoea. Author(s): Wachtel E. Source: Acta Cytol. 1966 January-February; 10(1): 56-61. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5220491

Additional Web Resources A number of additional Web sites offer encyclopedic information covering CAM and related topics. The following is a representative sample: •

Alternative Medicine Foundation, Inc.: http://www.herbmed.org/

•


•

Chinese Medicine: http://www.newcenturynutrition.com/

•

drkoop.com®: http://www.drkoop.com/InteractiveMedicine/IndexC.html

•

Family Village: http://www.familyvillage.wisc.edu/med_altn.htm

•

Google: http://directory.google.com/Top/Health/Alternative/

•

Healthnotes: http://www.healthnotes.com/

•

MedWebPlus: http://medwebplus.com/subject/Alternative_and_Complementary_Medicine

•

Open Directory Project: http://dmoz.org/Health/Alternative/

•

HealthGate: http://www.tnp.com/

•

WebMD®Health: http://my.webmd.com/drugs_and_herbs

•

WholeHealthMD.com: http://www.wholehealthmd.com/reflib/0,1529,00.html

•

Yahoo.com: http://dir.yahoo.com/Health/Alternative_Medicine/

General References A good place to find general background information on CAM is the National Library of Medicine. It has prepared within the MEDLINEplus system an information topic page

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dedicated to complementary and alternative medicine. To access this page, go to the MEDLINEplus site at http://www.nlm.nih.gov/medlineplus/alternativemedicine.html. This Web site provides a general overview of various topics and can lead to a number of general sources.

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CHAPTER

4.

PATENTS ON HYPERPLASIA

CONGENITAL

ADRENAL

Overview Patents can be physical innovations (e.g. chemicals, pharmaceuticals, medical equipment) or processes (e.g. treatments or diagnostic procedures). The United States Patent and Trademark Office defines a patent as a grant of a property right to the inventor, issued by the Patent and Trademark Office.8 Patents, therefore, are intellectual property. For the United States, the term of a new patent is 20 years from the date when the patent application was filed. If the inventor wishes to receive economic benefits, it is likely that the invention will become commercially available within 20 years of the initial filing. It is important to understand, therefore, that an inventor’s patent does not indicate that a product or service is or will be commercially available. The patent implies only that the inventor has “the right to exclude others from making, using, offering for sale, or selling” the invention in the United States. While this relates to U.S. patents, similar rules govern foreign patents. In this chapter, we show you how to locate information on patents and their inventors. If you find a patent that is particularly interesting to you, contact the inventor or the assignee for further information. IMPORTANT NOTE: When following the search strategy described below, you may discover non-medical patents that use the generic term “congenital adrenal hyperplasia” (or a synonym) in their titles. To accurately reflect the results that you might find while conducting research on congenital adrenal hyperplasia, we have not necessarily excluded non-medical patents in this bibliography.

Patents on Congenital Adrenal Hyperplasia By performing a patent search focusing on congenital adrenal hyperplasia, you can obtain information such as the title of the invention, the names of the inventor(s), the assignee(s) or the company that owns or controls the patent, a short abstract that summarizes the patent, and a few excerpts from the description of the patent. The abstract of a patent tends to be more technical in nature, while the description is often written for the public. Full patent 8Adapted

from the United States Patent and Trademark Office: http://www.uspto.gov/web/offices/pac/doc/general/whatis.htm.

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descriptions contain much more information than is presented here (e.g. claims, references, figures, diagrams, etc.). We will tell you how to obtain this information later in the chapter. The following is an example of the type of information that you can expect to obtain from a patent search on congenital adrenal hyperplasia: •

Method for determining steroids in human body liquids Inventor(s): New; Maria I. (New York, NY), Pang; Songja (New York, NY) Assignee(s): Cornell Research Foundation, Inc. (Ithaca, NY) Patent Number: 4,230,684 Date filed: March 16, 1978 Abstract: A micromethod for the determination of steroids in human body liquids, in particular blood, is disclosed. A small sample of the liquid is transferred to a sheet of absorbing material, e.g., filter paper. A disc of the impregnated paper, containing the dried sample, in eluted with an aqueous solvent, e.g., a buffer solution. Without separating the paper from the elute, the latter is extracted with an organic solvent. A steroid-containing residue is recovered from the organic extract and is subjected to a conventional radioimmunoassay. The method is particularly suited for the detection of disorders with elevated steroid levels such as congenital adrenal hyperplasia in newborn infants by determining the 17.alpha.-hydroxy-progesterone concentration in small blood samples. Excerpt(s): The present invention relates to a micromethod and means for the determination of steroids, in particular of 17.alpha.-hydroxy-progesterone, in human body liquids and to a new method and means for detection of congenital adrenal hyperplasia (CAH) in newborn humans. The estimated incidence of congenital adrenal hyperplasia (CAH) based on different population groups indicates that CAH may occur in one out of every 11,000 live births. Failure of early diagnosis of CAH in the affected newborn may lead to life-threatening adrenal crises during the first few months of life, and in the genetic female there may be a need for sex reassignment if the ambiguity of the external genitalia has led to an incorrect sex assignment. Furthermore, delayed diagnosis is almost always associated with the acceleration of skeletal maturation ultimately leading to short stature and premature development of secondary sex characteristics in male children and further virilization in female affected children. In view of the described known complications of the unrecognized and untreated disease, and in view of the relatively high frequency of the gene, as reflected in incidence, diagnostic delay is a serious problem. Web site: http://www.delphion.com/details?pn=US04230684__

Patent Applications on Congenital Adrenal Hyperplasia As of December 2000, U.S. patent applications are open to public viewing.9 Applications are patent requests which have yet to be granted. (The process to achieve a patent can take several years.) The following patent applications have been filed since December 2000 relating to congenital adrenal hyperplasia:

9

This has been a common practice outside the United States prior to December 2000.

Patents 73

•

Diagnostic method and oligonucleotide chip for congenital adrenal hyperplasia Inventor(s): Jin, Dong Kyu; (Seoul, KR) Correspondence: Jacobson Holman Pllc; 400 Seventh Street N.W.; Suite 600; Washington; DC; 20004; US Patent Application Number: 20030073082 Date filed: September 14, 2001 Abstract: The present invention provides a diagnostic method for congenital adrenal hyperplasia, comprising the steps of: preparing oligonucleotide chip in which 7 sets of tandem cDNA fragments of normal and patient's 21-hydroxylase gene (exon 1, intron 2, exon 4) are immobilized to solid support; amplifying the DNA segments of 21hydroxylase gene (exon 1, intron 2, exon 4) from the genomnic DNA of a testee using labeled primers under the suitable condition for carrying out polymerase chain reaction (PCR); hybridizing 7 sets of tandem cDNA fragments in oligonucleotide chip with the PCR product by amplifying gDNA segments; and analyzing the results of the hybridization. Excerpt(s): The present invention relates to a diagnostic method and oligonucleotide chip for congenital adrenal hyperplasia. More particularly, the present invention relates to using gene amplification methodology (Polymerase Chain Reaction), PCR-MPH (Polymerase Chain Reaction--Microtiter Plate Hybridization) and oligonucleotide probe technology. The methods and probes of the invention specifically relate to the detection of congenital adrenal hyperplasia. The invention relates to the fields of molecular biology, diagnostic medicine. Congenital adrenal hyperplasia (CAH) is an inherited disorder of cortisol biosynthesis. Although five different enzymes, such as, StAR protein (Steroidogenic Acute Regulatory protein), 17-hydroxylase, 3.beta.-HSD, 21-hydroxylase, 11.beta.-hydroxylase are required to synthesize cortisol in the adrenal cortex-mix, steroid 21-hydroxylase deficiency accounts for more than 90% of CAH. The patient of CAH shows various pathogenic symptom due to the reduction of cortisol and aldosterone biosynthesis. The steroid 21-hydroxylase gene, located in the HLA class III gene region on chromosome 6, has a complicated structure with a high degree of variability. An active gene, CYP21B, and a highly homologous inactive pseudogene, CYP21A, are located 3' from each of the two genes encoding the fourth component of complement C4A and C4B, forming a repeated tandem of the units C4/21OH. Web site: http://appft1.uspto.gov/netahtml/PTO/search-bool.html

Keeping Current In order to stay informed about patents and patent applications dealing with congenital adrenal hyperplasia, you can access the U.S. Patent Office archive via the Internet at the following Web address: http://www.uspto.gov/patft/index.html. You will see two broad options: (1) Issued Patent, and (2) Published Applications. To see a list of issued patents, perform the following steps: Under “Issued Patents,” click “Quick Search.” Then, type “congenital adrenal hyperplasia” (or synonyms) into the “Term 1” box. After clicking on the search button, scroll down to see the various patents which have been granted to date on congenital adrenal hyperplasia.

74


You can also use this procedure to view pending patent applications concerning congenital adrenal hyperplasia. Simply go back to http://www.uspto.gov/patft/index.html. Select “Quick Search” under “Published Applications.” Then proceed with the steps listed above.

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APPENDICES

77

APPENDIX A. PHYSICIAN RESOURCES Overview In this chapter, we focus on databases and Internet-based guidelines and information resources created or written for a professional audience.

NIH Guidelines Commonly referred to as “clinical” or “professional” guidelines, the National Institutes of Health publish physician guidelines for the most common diseases. Publications are available at the following by relevant Institute10: •

Office of the Director (OD); guidelines consolidated across agencies available at http://www.nih.gov/health/consumer/conkey.htm

•

National Institute of General Medical Sciences (NIGMS); fact sheets available at http://www.nigms.nih.gov/news/facts/

•

National Library of Medicine (NLM); extensive encyclopedia (A.D.A.M., Inc.) with guidelines: http://www.nlm.nih.gov/medlineplus/healthtopics.html

•

National Cancer Institute (NCI); guidelines available at http://www.cancer.gov/cancerinfo/list.aspx?viewid=5f35036e-5497-4d86-8c2c714a9f7c8d25

•

National Eye Institute (NEI); guidelines available at http://www.nei.nih.gov/order/index.htm

•

National Heart, Lung, and Blood Institute (NHLBI); guidelines available at http://www.nhlbi.nih.gov/guidelines/index.htm

•

National Human Genome Research Institute (NHGRI); research available at http://www.genome.gov/page.cfm?pageID=10000375

•

National Institute on Aging (NIA); guidelines available at http://www.nia.nih.gov/health/

10

These publications are typically written by one or more of the various NIH Institutes.

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•

National Institute on Alcohol Abuse and Alcoholism (NIAAA); guidelines available at http://www.niaaa.nih.gov/publications/publications.htm

•

National Institute of Allergy and Infectious Diseases (NIAID); guidelines available at http://www.niaid.nih.gov/publications/

•

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS); fact sheets and guidelines available at http://www.niams.nih.gov/hi/index.htm

•

National Institute of Child Health and Human Development (NICHD); guidelines available at http://www.nichd.nih.gov/publications/pubskey.cfm

•

National Institute on Deafness and Other Communication Disorders (NIDCD); fact sheets and guidelines at http://www.nidcd.nih.gov/health/

•

National Institute of Dental and Craniofacial Research (NIDCR); guidelines available at http://www.nidr.nih.gov/health/

•

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); guidelines available at http://www.niddk.nih.gov/health/health.htm

•

National Institute on Drug Abuse (NIDA); guidelines available at http://www.nida.nih.gov/DrugAbuse.html

•

National Institute of Environmental Health Sciences (NIEHS); environmental health information available at http://www.niehs.nih.gov/external/facts.htm

•

National Institute of Mental Health (NIMH); guidelines available at http://www.nimh.nih.gov/practitioners/index.cfm

•

National Institute of Neurological Disorders and Stroke (NINDS); neurological disorder information pages available at http://www.ninds.nih.gov/health_and_medical/disorder_index.htm

•

National Institute of Nursing Research (NINR); publications on selected illnesses at http://www.nih.gov/ninr/news-info/publications.html

•

National Institute of Biomedical Imaging and Bioengineering; general information at http://grants.nih.gov/grants/becon/becon_info.htm

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Center for Information Technology (CIT); referrals to other agencies based on keyword searches available at http://kb.nih.gov/www_query_main.asp

•

National Center for Complementary and Alternative Medicine (NCCAM); health information available at http://nccam.nih.gov/health/

•

National Center for Research Resources (NCRR); various information directories available at http://www.ncrr.nih.gov/publications.asp

•

Office of Rare Diseases; various fact sheets available at http://rarediseases.info.nih.gov/html/resources/rep_pubs.html

•

Centers for Disease Control and Prevention; various fact sheets on infectious diseases available at http://www.cdc.gov/publications.htm

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NIH Databases In addition to the various Institutes of Health that publish professional guidelines, the NIH has designed a number of databases for professionals.11 Physician-oriented resources provide a wide variety of information related to the biomedical and health sciences, both past and present. The format of these resources varies. Searchable databases, bibliographic citations, full-text articles (when available), archival collections, and images are all available. The following are referenced by the National Library of Medicine:12 •

Bioethics: Access to published literature on the ethical, legal, and public policy issues surrounding healthcare and biomedical research. This information is provided in conjunction with the Kennedy Institute of Ethics located at Georgetown University, Washington, D.C.: http://www.nlm.nih.gov/databases/databases_bioethics.html

•

HIV/AIDS Resources: Describes various links and databases dedicated to HIV/AIDS research: http://www.nlm.nih.gov/pubs/factsheets/aidsinfs.html

•

NLM Online Exhibitions: Describes “Exhibitions in the History of Medicine”: http://www.nlm.nih.gov/exhibition/exhibition.html. Additional resources for historical scholarship in medicine: http://www.nlm.nih.gov/hmd/hmd.html

•

Biotechnology Information: Access to public databases. The National Center for Biotechnology Information conducts research in computational biology, develops software tools for analyzing genome data, and disseminates biomedical information for the better understanding of molecular processes affecting human health and disease: http://www.ncbi.nlm.nih.gov/

•

Population Information: The National Library of Medicine provides access to worldwide coverage of population, family planning, and related health issues, including family planning technology and programs, fertility, and population law and policy: http://www.nlm.nih.gov/databases/databases_population.html

•

Cancer Information: Access to cancer-oriented databases: http://www.nlm.nih.gov/databases/databases_cancer.html

•

Profiles in Science: Offering the archival collections of prominent twentieth-century biomedical scientists to the public through modern digital technology: http://www.profiles.nlm.nih.gov/

•

Chemical Information: Provides links to various chemical databases and references: http://sis.nlm.nih.gov/Chem/ChemMain.html

•

Clinical Alerts: Reports the release of findings from the NIH-funded clinical trials where such release could significantly affect morbidity and mortality: http://www.nlm.nih.gov/databases/alerts/clinical_alerts.html

•

Space Life Sciences: Provides links and information to space-based research (including NASA): http://www.nlm.nih.gov/databases/databases_space.html

•

MEDLINE: Bibliographic database covering the fields of medicine, nursing, dentistry, veterinary medicine, the healthcare system, and the pre-clinical sciences: http://www.nlm.nih.gov/databases/databases_medline.html

11

Remember, for the general public, the National Library of Medicine recommends the databases referenced in MEDLINEplus (http://medlineplus.gov/ or http://www.nlm.nih.gov/medlineplus/databases.html). 12 See http://www.nlm.nih.gov/databases/databases.html.

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•

Toxicology and Environmental Health Information (TOXNET): Databases covering toxicology and environmental health: http://sis.nlm.nih.gov/Tox/ToxMain.html

•

Visible Human Interface: Anatomically detailed, three-dimensional representations of normal male and female human bodies: http://www.nlm.nih.gov/research/visible/visible_human.html

The NLM Gateway13 The NLM (National Library of Medicine) Gateway is a Web-based system that lets users search simultaneously in multiple retrieval systems at the U.S. National Library of Medicine (NLM). It allows users of NLM services to initiate searches from one Web interface, providing one-stop searching for many of NLM’s information resources or databases.14 To use the NLM Gateway, simply go to the search site at http://gateway.nlm.nih.gov/gw/Cmd. Type “congenital adrenal hyperplasia” (or synonyms) into the search box and click “Search.” The results will be presented in a tabular form, indicating the number of references in each database category. Results Summary Category Journal Articles Books / Periodicals / Audio Visual Consumer Health Meeting Abstracts Other Collections Total

Items Found 4355 30 739 2 49 5175

HSTAT15 HSTAT is a free, Web-based resource that provides access to full-text documents used in healthcare decision-making.16 These documents include clinical practice guidelines, quickreference guides for clinicians, consumer health brochures, evidence reports and technology assessments from the Agency for Healthcare Research and Quality (AHRQ), as well as AHRQ’s Put Prevention Into Practice.17 Simply search by “congenital adrenal hyperplasia” (or synonyms) at the following Web site: http://text.nlm.nih.gov.

13

Adapted from NLM: http://gateway.nlm.nih.gov/gw/Cmd?Overview.x.

14

The NLM Gateway is currently being developed by the Lister Hill National Center for Biomedical Communications (LHNCBC) at the National Library of Medicine (NLM) of the National Institutes of Health (NIH). 15 Adapted from HSTAT: http://www.nlm.nih.gov/pubs/factsheets/hstat.html. 16 17

The HSTAT URL is http://hstat.nlm.nih.gov/.

Other important documents in HSTAT include: the National Institutes of Health (NIH) Consensus Conference Reports and Technology Assessment Reports; the HIV/AIDS Treatment Information Service (ATIS) resource documents; the Substance Abuse and Mental Health Services Administration's Center for Substance Abuse Treatment (SAMHSA/CSAT) Treatment Improvement Protocols (TIP) and Center for Substance Abuse Prevention (SAMHSA/CSAP) Prevention Enhancement Protocols System (PEPS); the Public Health Service (PHS) Preventive Services Task Force's Guide to Clinical Preventive Services; the independent, nonfederal Task Force on Community Services’ Guide to Community Preventive Services; and the Health Technology Advisory Committee (HTAC) of the Minnesota Health Care Commission (MHCC) health technology evaluations.

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Coffee Break: Tutorials for Biologists18 Coffee Break is a general healthcare site that takes a scientific view of the news and covers recent breakthroughs in biology that may one day assist physicians in developing treatments. Here you will find a collection of short reports on recent biological discoveries. Each report incorporates interactive tutorials that demonstrate how bioinformatics tools are used as a part of the research process. Currently, all Coffee Breaks are written by NCBI staff.19 Each report is about 400 words and is usually based on a discovery reported in one or more articles from recently published, peer-reviewed literature.20 This site has new articles every few weeks, so it can be considered an online magazine of sorts. It is intended for general background information. You can access the Coffee Break Web site at the following hyperlink: http://www.ncbi.nlm.nih.gov/Coffeebreak/.

Other Commercial Databases In addition to resources maintained by official agencies, other databases exist that are commercial ventures addressing medical professionals. Here are some examples that may interest you: •

CliniWeb International: Index and table of contents to selected clinical information on the Internet; see http://www.ohsu.edu/cliniweb/.

•

Medical World Search: Searches full text from thousands of selected medical sites on the Internet; see http://www.mwsearch.com/.

18 Adapted 19

from http://www.ncbi.nlm.nih.gov/Coffeebreak/Archive/FAQ.html.

The figure that accompanies each article is frequently supplied by an expert external to NCBI, in which case the source of the figure is cited. The result is an interactive tutorial that tells a biological story. 20 After a brief introduction that sets the work described into a broader context, the report focuses on how a molecular understanding can provide explanations of observed biology and lead to therapies for diseases. Each vignette is accompanied by a figure and hypertext links that lead to a series of pages that interactively show how NCBI tools and resources are used in the research process.

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APPENDIX B. PATIENT RESOURCES Overview Official agencies, as well as federally funded institutions supported by national grants, frequently publish a variety of guidelines written with the patient in mind. These are typically called “Fact Sheets” or “Guidelines.” They can take the form of a brochure, information kit, pamphlet, or flyer. Often they are only a few pages in length. Since new guidelines on congenital adrenal hyperplasia can appear at any moment and be published by a number of sources, the best approach to finding guidelines is to systematically scan the Internet-based services that post them.

Patient Guideline Sources The remainder of this chapter directs you to sources which either publish or can help you find additional guidelines on topics related to congenital adrenal hyperplasia. Due to space limitations, these sources are listed in a concise manner. Do not hesitate to consult the following sources by either using the Internet hyperlink provided, or, in cases where the contact information is provided, contacting the publisher or author directly. The National Institutes of Health The NIH gateway to patients is located at http://health.nih.gov/. From this site, you can search across various sources and institutes, a number of which are summarized below. Topic Pages: MEDLINEplus The National Library of Medicine has created a vast and patient-oriented healthcare information portal called MEDLINEplus. Within this Internet-based system are “health topic pages” which list links to available materials relevant to congenital adrenal hyperplasia. To access this system, log on to http://www.nlm.nih.gov/medlineplus/healthtopics.html. From there you can either search using the alphabetical index or browse by broad topic areas. Recently, MEDLINEplus listed the following when searched for “congenital adrenal hyperplasia”:

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Adrenal Gland Disorders http://www.nlm.nih.gov/medlineplus/adrenalglanddisorders.html Alpha-1 Antitrypsin Deficiency http://www.nlm.nih.gov/medlineplus/alpha1antitrypsindeficiency.html Benign Tumors http://www.nlm.nih.gov/medlineplus/benigntumors.html Genetic Brain Disorders http://www.nlm.nih.gov/medlineplus/geneticbraindisorders.html Hormones http://www.nlm.nih.gov/medlineplus/hormones.html Leukodystrophies http://www.nlm.nih.gov/medlineplus/leukodystrophies.html Metabolic Disorders http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html Pituitary Disorders http://www.nlm.nih.gov/medlineplus/pituitarydisorders.html Thyroid Diseases http://www.nlm.nih.gov/medlineplus/thyroiddiseases.html You may also choose to use the search utility provided by MEDLINEplus at the following Web address: http://www.nlm.nih.gov/medlineplus/. Simply type a keyword into the search box and click “Search.” This utility is similar to the NIH search utility, with the exception that it only includes materials that are linked within the MEDLINEplus system (mostly patient-oriented information). It also has the disadvantage of generating unstructured results. We recommend, therefore, that you use this method only if you have a very targeted search. The Combined Health Information Database (CHID) CHID Online is a reference tool that maintains a database directory of thousands of journal articles and patient education guidelines on congenital adrenal hyperplasia. CHID offers summaries that describe the guidelines available, including contact information and pricing. CHID’s general Web site is http://chid.nih.gov/. To search this database, go to http://chid.nih.gov/detail/detail.html. In particular, you can use the advanced search options to look up pamphlets, reports, brochures, and information kits. The following was recently posted in this archive: •

Congenital adrenal hyperplasia Source: Oak Park, IL: MAGIC Foundation. n.d. 2 pp. Contact: Available from MAGIC Foundation for Children's Growth, 1327 North Harlem Avenue, Suite 701, Oak Park, IL 60302. Telephone: (708) 383- 0808 or (800) 3MAGIC3 / fax: (708) 383-0899 / e-mail: [email protected] / Web site: http://www.magicfoundation.

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Summary: This brochure provides an overview of congenital adrenal hyperplasia. It briefly describes the causes of the inherited disorder, its effects, how it is diagnosed, and treatment for the condition. The NIH Search Utility The NIH search utility allows you to search for documents on over 100 selected Web sites that comprise the NIH-WEB-SPACE. Each of these servers is “crawled” and indexed on an ongoing basis. Your search will produce a list of various documents, all of which will relate in some way to congenital adrenal hyperplasia. The drawbacks of this approach are that the information is not organized by theme and that the references are often a mix of information for professionals and patients. Nevertheless, a large number of the listed Web sites provide useful background information. We can only recommend this route, therefore, for relatively rare or specific disorders, or when using highly targeted searches. To use the NIH search utility, visit the following Web page: http://search.nih.gov/index.html. Additional Web Sources A number of Web sites are available to the public that often link to government sites. These can also point you in the direction of essential information. The following is a representative sample: •


•

Family Village: http://www.familyvillage.wisc.edu/specific.htm

•

Google: http://directory.google.com/Top/Health/Conditions_and_Diseases/

•

Med Help International: http://www.medhelp.org/HealthTopics/A.html

•

Open Directory Project: http://dmoz.org/Health/Conditions_and_Diseases/

•

Yahoo.com: http://dir.yahoo.com/Health/Diseases_and_Conditions/

•

WebMD®Health: http://my.webmd.com/health_topics

Associations and Congenital Adrenal Hyperplasia The following is a list of associations that provide information on and resources relating to congenital adrenal hyperplasia: •

CARES Foundation, Inc. (Congenital Adrenal Hyperplasia, Research,Education and Support) Telephone: (973) 912-3895 Toll-free: (866) 227-3737 Fax: (973) 912-3894 Email: [email protected] Web Site: http://www.caresfoundation.org Background: CARES Foundation, Inc., is dedicated to providing support to individuals and families affected by congenital adrenal hyperplasia. It is a voluntary, 501(c)(3) organization. It serves patients, health professionals, and the public with information about congenital adrenal hyperplasia, a group of disorders that result from the

86


impaired ability of the adrenal glands to produce hormones known as corticosteriods, resulting in various metabolic problems. Services include support groups, referrals, professional education and publications, with plans to introduce Spanish language materials soon.

Finding Associations There are several Internet directories that provide lists of medical associations with information on or resources relating to congenital adrenal hyperplasia. By consulting all of associations listed in this chapter, you will have nearly exhausted all sources for patient associations concerned with congenital adrenal hyperplasia. The National Health Information Center (NHIC) The National Health Information Center (NHIC) offers a free referral service to help people find organizations that provide information about congenital adrenal hyperplasia. For more information, see the NHIC’s Web site at http://www.health.gov/NHIC/ or contact an information specialist by calling 1-800-336-4797. Directory of Health Organizations The Directory of Health Organizations, provided by the National Library of Medicine Specialized Information Services, is a comprehensive source of information on associations. The Directory of Health Organizations database can be accessed via the Internet at http://www.sis.nlm.nih.gov/Dir/DirMain.html. It is composed of two parts: DIRLINE and Health Hotlines. The DIRLINE database comprises some 10,000 records of organizations, research centers, and government institutes and associations that primarily focus on health and biomedicine. To access DIRLINE directly, go to the following Web site: http://dirline.nlm.nih.gov/. Simply type in “congenital adrenal hyperplasia” (or a synonym), and you will receive information on all relevant organizations listed in the database. Health Hotlines directs you to toll-free numbers to over 300 organizations. You can access this database directly at http://www.sis.nlm.nih.gov/hotlines/. On this page, you are given the option to search by keyword or by browsing the subject list. When you have received your search results, click on the name of the organization for its description and contact information. The Combined Health Information Database Another comprehensive source of information on healthcare associations is the Combined Health Information Database. Using the “Detailed Search” option, you will need to limit your search to “Organizations” and “congenital adrenal hyperplasia”. Type the following hyperlink into your Web browser: http://chid.nih.gov/detail/detail.html. To find associations, use the drop boxes at the bottom of the search page where “You may refine your search by.” For publication date, select “All Years.” Then, select your preferred

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language and the format option “Organization Resource Sheet.” Type “congenital adrenal hyperplasia” (or synonyms) into the “For these words:” box. You should check back periodically with this database since it is updated every three months. The National Organization for Rare Disorders, Inc. The National Organization for Rare Disorders, Inc. has prepared a Web site that provides, at no charge, lists of associations organized by health topic. You can access this database at the following Web site: http://www.rarediseases.org/search/orgsearch.html. Type “congenital adrenal hyperplasia” (or a synonym) into the search box, and click “Submit Query.”

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APPENDIX C. FINDING MEDICAL LIBRARIES Overview In this Appendix, we show you how to quickly find a medical library in your area.

Preparation Your local public library and medical libraries have interlibrary loan programs with the National Library of Medicine (NLM), one of the largest medical collections in the world. According to the NLM, most of the literature in the general and historical collections of the National Library of Medicine is available on interlibrary loan to any library. If you would like to access NLM medical literature, then visit a library in your area that can request the publications for you.21

Finding a Local Medical Library The quickest method to locate medical libraries is to use the Internet-based directory published by the National Network of Libraries of Medicine (NN/LM). This network includes 4626 members and affiliates that provide many services to librarians, health professionals, and the public. To find a library in your area, simply visit http://nnlm.gov/members/adv.html or call 1-800-338-7657.

Medical Libraries in the U.S. and Canada In addition to the NN/LM, the National Library of Medicine (NLM) lists a number of libraries with reference facilities that are open to the public. The following is the NLM’s list and includes hyperlinks to each library’s Web site. These Web pages can provide information on hours of operation and other restrictions. The list below is a small sample of

21

Adapted from the NLM: http://www.nlm.nih.gov/psd/cas/interlibrary.html.

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libraries recommended by the National Library of Medicine (sorted alphabetically by name of the U.S. state or Canadian province where the library is located)22: •

Alabama: Health InfoNet of Jefferson County (Jefferson County Library Cooperative, Lister Hill Library of the Health Sciences), http://www.uab.edu/infonet/

•

Alabama: Richard M. Scrushy Library (American Sports Medicine Institute)

•

Arizona: Samaritan Regional Medical Center: The Learning Center (Samaritan Health System, Phoenix, Arizona), http://www.samaritan.edu/library/bannerlibs.htm

•

California: Kris Kelly Health Information Center (St. Joseph Health System, Humboldt), http://www.humboldt1.com/~kkhic/index.html

•

California: Community Health Library of Los Gatos, http://www.healthlib.org/orgresources.html

•

California: Consumer Health Program and Services (CHIPS) (County of Los Angeles Public Library, Los Angeles County Harbor-UCLA Medical Center Library) - Carson, CA, http://www.colapublib.org/services/chips.html

•

California: Gateway Health Library (Sutter Gould Medical Foundation)

•

California: Health Library (Stanford University Medical Center), http://wwwmed.stanford.edu/healthlibrary/

•

California: Patient Education Resource Center - Health Information and Resources (University of California, San Francisco), http://sfghdean.ucsf.edu/barnett/PERC/default.asp

•

California: Redwood Health Library (Petaluma Health Care District), http://www.phcd.org/rdwdlib.html

•

California: Los Gatos PlaneTree Health Library, http://planetreesanjose.org/

•

California: Sutter Resource Library (Sutter Hospitals Foundation, Sacramento), http://suttermedicalcenter.org/library/

•

California: Health Sciences Libraries (University of California, Davis), http://www.lib.ucdavis.edu/healthsci/

•

California: ValleyCare Health Library & Ryan Comer Cancer Resource Center (ValleyCare Health System, Pleasanton), http://gaelnet.stmarysca.edu/other.libs/gbal/east/vchl.html

•

California: Washington Community Health Resource Library (Fremont), http://www.healthlibrary.org/

•

Colorado: William V. Gervasini Memorial Library (Exempla Healthcare), http://www.saintjosephdenver.org/yourhealth/libraries/

•

Connecticut: Hartford Hospital Health Science Libraries (Hartford Hospital), http://www.harthosp.org/library/

•

Connecticut: Healthnet: Connecticut Consumer Health Information Center (University of Connecticut Health Center, Lyman Maynard Stowe Library), http://library.uchc.edu/departm/hnet/

22

Abstracted from http://www.nlm.nih.gov/medlineplus/libraries.html.

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•

Connecticut: Waterbury Hospital Health Center Library (Waterbury Hospital, Waterbury), http://www.waterburyhospital.com/library/consumer.shtml

•

Delaware: Consumer Health Library (Christiana Care Health System, Eugene du Pont Preventive Medicine & Rehabilitation Institute, Wilmington), http://www.christianacare.org/health_guide/health_guide_pmri_health_info.cfm

•

Delaware: Lewis B. Flinn Library (Delaware Academy of Medicine, Wilmington), http://www.delamed.org/chls.html

•

Georgia: Family Resource Library (Medical College of Georgia, Augusta), http://cmc.mcg.edu/kids_families/fam_resources/fam_res_lib/frl.htm

•

Georgia: Health Resource Center (Medical Center of Central Georgia, Macon), http://www.mccg.org/hrc/hrchome.asp

•

Hawaii: Hawaii Medical Library: Consumer Health Information Service (Hawaii Medical Library, Honolulu), http://hml.org/CHIS/

•

Idaho: DeArmond Consumer Health Library (Kootenai Medical Center, Coeur d’Alene), http://www.nicon.org/DeArmond/index.htm

•

Illinois: Health Learning Center of Northwestern Memorial Hospital (Chicago), http://www.nmh.org/health_info/hlc.html

•

Illinois: Medical Library (OSF Saint Francis Medical Center, Peoria), http://www.osfsaintfrancis.org/general/library/

•

Kentucky: Medical Library - Services for Patients, Families, Students & the Public (Central Baptist Hospital, Lexington), http://www.centralbap.com/education/community/library.cfm

•

Kentucky: University of Kentucky - Health Information Library (Chandler Medical Center, Lexington), http://www.mc.uky.edu/PatientEd/

•

Louisiana: Alton Ochsner Medical Foundation Library (Alton Ochsner Medical Foundation, New Orleans), http://www.ochsner.org/library/

•

Louisiana: Louisiana State University Health Sciences Center Medical LibraryShreveport, http://lib-sh.lsuhsc.edu/

•

Maine: Franklin Memorial Hospital Medical Library (Franklin Memorial Hospital, Farmington), http://www.fchn.org/fmh/lib.htm

•

Maine: Gerrish-True Health Sciences Library (Central Maine Medical Center, Lewiston), http://www.cmmc.org/library/library.html

•

Maine: Hadley Parrot Health Science Library (Eastern Maine Healthcare, Bangor), http://www.emh.org/hll/hpl/guide.htm

•

Maine: Maine Medical Center Library (Maine Medical Center, Portland), http://www.mmc.org/library/

•

Maine: Parkview Hospital (Brunswick), http://www.parkviewhospital.org/

•

Maine: Southern Maine Medical Center Health Sciences Library (Southern Maine Medical Center, Biddeford), http://www.smmc.org/services/service.php3?choice=10

•

Maine: Stephens Memorial Hospital’s Health Information Library (Western Maine Health, Norway), http://www.wmhcc.org/Library/

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•

Manitoba, Canada: Consumer & Patient Health Information Service (University of Manitoba Libraries), http://www.umanitoba.ca/libraries/units/health/reference/chis.html

•

Manitoba, Canada: J.W. Crane Memorial Library (Deer Lodge Centre, Winnipeg), http://www.deerlodge.mb.ca/crane_library/about.asp

•

Maryland: Health Information Center at the Wheaton Regional Library (Montgomery County, Dept. of Public Libraries, Wheaton Regional Library), http://www.mont.lib.md.us/healthinfo/hic.asp

•

Massachusetts: Baystate Medical Center Library (Baystate Health System), http://www.baystatehealth.com/1024/

•

Massachusetts: Boston University Medical Center Alumni Medical Library (Boston University Medical Center), http://med-libwww.bu.edu/library/lib.html

•

Massachusetts: Lowell General Hospital Health Sciences Library (Lowell General Hospital, Lowell), http://www.lowellgeneral.org/library/HomePageLinks/WWW.htm

•

Massachusetts: Paul E. Woodard Health Sciences Library (New England Baptist Hospital, Boston), http://www.nebh.org/health_lib.asp

•

Massachusetts: St. Luke’s Hospital Health Sciences Library (St. Luke’s Hospital, Southcoast Health System, New Bedford), http://www.southcoast.org/library/

•

Massachusetts: Treadwell Library Consumer Health Reference Center (Massachusetts General Hospital), http://www.mgh.harvard.edu/library/chrcindex.html

•

Massachusetts: UMass HealthNet (University of Massachusetts Medical School, Worchester), http://healthnet.umassmed.edu/

•

Michigan: Botsford General Hospital Library - Consumer Health (Botsford General Hospital, Library & Internet Services), http://www.botsfordlibrary.org/consumer.htm

•

Michigan: Helen DeRoy Medical Library (Providence Hospital and Medical Centers), http://www.providence-hospital.org/library/

•

Michigan: Marquette General Hospital - Consumer Health Library (Marquette General Hospital, Health Information Center), http://www.mgh.org/center.html

•

Michigan: Patient Education Resouce Center - University of Michigan Cancer Center (University of Michigan Comprehensive Cancer Center, Ann Arbor), http://www.cancer.med.umich.edu/learn/leares.htm

•

Michigan: Sladen Library & Center for Health Information Resources - Consumer Health Information (Detroit), http://www.henryford.com/body.cfm?id=39330

•

Montana: Center for Health Information (St. Patrick Hospital and Health Sciences Center, Missoula)

•

National: Consumer Health Library Directory (Medical Library Association, Consumer and Patient Health Information Section), http://caphis.mlanet.org/directory/index.html

•

National: National Network of Libraries of Medicine (National Library of Medicine) provides library services for health professionals in the United States who do not have access to a medical library, http://nnlm.gov/

•

National: NN/LM List of Libraries Serving the Public (National Network of Libraries of Medicine), http://nnlm.gov/members/

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•

Nevada: Health Science Library, West Charleston Library (Las Vegas-Clark County Library District, Las Vegas), http://www.lvccld.org/special_collections/medical/index.htm

•

New Hampshire: Dartmouth Biomedical Libraries (Dartmouth College Library, Hanover), http://www.dartmouth.edu/~biomed/resources.htmld/conshealth.htmld/

•

New Jersey: Consumer Health Library (Rahway Hospital, Rahway), http://www.rahwayhospital.com/library.htm

•

New Jersey: Dr. Walter Phillips Health Sciences Library (Englewood Hospital and Medical Center, Englewood), http://www.englewoodhospital.com/links/index.htm

•

New Jersey: Meland Foundation (Englewood Hospital and Medical Center, Englewood), http://www.geocities.com/ResearchTriangle/9360/

•

New York: Choices in Health Information (New York Public Library) - NLM Consumer Pilot Project participant, http://www.nypl.org/branch/health/links.html

•

New York: Health Information Center (Upstate Medical University, State University of New York, Syracuse), http://www.upstate.edu/library/hic/

•

New York: Health Sciences Library (Long Island Jewish Medical Center, New Hyde Park), http://www.lij.edu/library/library.html

•

New York: ViaHealth Medical Library (Rochester General Hospital), http://www.nyam.org/library/

•

Ohio: Consumer Health Library (Akron General Medical Center, Medical & Consumer Health Library), http://www.akrongeneral.org/hwlibrary.htm

•

Oklahoma: The Health Information Center at Saint Francis Hospital (Saint Francis Health System, Tulsa), http://www.sfh-tulsa.com/services/healthinfo.asp

•

Oregon: Planetree Health Resource Center (Mid-Columbia Medical Center, The Dalles), http://www.mcmc.net/phrc/

•

Pennsylvania: Community Health Information Library (Milton S. Hershey Medical Center, Hershey), http://www.hmc.psu.edu/commhealth/

•

Pennsylvania: Community Health Resource Library (Geisinger Medical Center, Danville), http://www.geisinger.edu/education/commlib.shtml

•

Pennsylvania: HealthInfo Library (Moses Taylor Hospital, Scranton), http://www.mth.org/healthwellness.html

•

Pennsylvania: Hopwood Library (University of Pittsburgh, Health Sciences Library System, Pittsburgh), http://www.hsls.pitt.edu/guides/chi/hopwood/index_html

•

Pennsylvania: Koop Community Health Information Center (College of Physicians of Philadelphia), http://www.collphyphil.org/kooppg1.shtml

•

Pennsylvania: Learning Resources Center - Medical Library (Susquehanna Health System, Williamsport), http://www.shscares.org/services/lrc/index.asp

•

Pennsylvania: Medical Library (UPMC Health System, Pittsburgh), http://www.upmc.edu/passavant/library.htm

•

Quebec, Canada: Medical Library (Montreal General Hospital), http://www.mghlib.mcgill.ca/

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•

South Dakota: Rapid City Regional Hospital Medical Library (Rapid City Regional Hospital), http://www.rcrh.org/Services/Library/Default.asp

•

Texas: Houston HealthWays (Houston Academy of Medicine-Texas Medical Center Library), http://hhw.library.tmc.edu/

•

Washington: Community Health Library (Kittitas Valley Community Hospital), http://www.kvch.com/

•

Washington: Southwest Washington Medical Center Library (Southwest Washington Medical Center, Vancouver), http://www.swmedicalcenter.com/body.cfm?id=72

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ONLINE GLOSSARIES The Internet provides access to a number of free-to-use medical dictionaries. The National Library of Medicine has compiled the following list of online dictionaries: •

ADAM Medical Encyclopedia (A.D.A.M., Inc.), comprehensive medical reference: http://www.nlm.nih.gov/medlineplus/encyclopedia.html

•

MedicineNet.com Medical Dictionary (MedicineNet, Inc.): http://www.medterms.com/Script/Main/hp.asp

•

Merriam-Webster Medical Dictionary (Inteli-Health, Inc.): http://www.intelihealth.com/IH/

•

Multilingual Glossary of Technical and Popular Medical Terms in Eight European Languages (European Commission) - Danish, Dutch, English, French, German, Italian, Portuguese, and Spanish: http://allserv.rug.ac.be/~rvdstich/eugloss/welcome.html

•

On-line Medical Dictionary (CancerWEB): http://cancerweb.ncl.ac.uk/omd/

•

Rare Diseases Terms (Office of Rare Diseases): http://ord.aspensys.com/asp/diseases/diseases.asp

•

Technology Glossary (National Library of Medicine) - Health Care Technology: http://www.nlm.nih.gov/nichsr/ta101/ta10108.htm

Beyond these, MEDLINEplus contains a very patient-friendly encyclopedia covering every aspect of medicine (licensed from A.D.A.M., Inc.). The ADAM Medical Encyclopedia can be accessed at http://www.nlm.nih.gov/medlineplus/encyclopedia.html. ADAM is also available on commercial Web sites such as drkoop.com (http://www.drkoop.com/) and Web MD (http://my.webmd.com/adam/asset/adam_disease_articles/a_to_z/a). The NIH suggests the following Web sites in the ADAM Medical Encyclopedia when searching for information on congenital adrenal hyperplasia: •

Basic Guidelines for Congenital Adrenal Hyperplasia Congenital adrenal hyperplasia Web site: http://www.nlm.nih.gov/medlineplus/ency/article/000411.htm

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Signs & Symptoms for Congenital Adrenal Hyperplasia Ambiguous genitalia Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003269.htm Failure to menstruate Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003149.htm Hair - excessive on females Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003148.htm Menstrual periods, abnormal Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003263.htm

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Vomiting Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003117.htm •

Diagnostics and Tests for Congenital Adrenal Hyperplasia 17-hydroxycorticosteroids Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003459.htm 17-ketosteroids Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003460.htm 17-OH progesterone Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003713.htm Aldosterone Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003704.htm ALT Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003473.htm Chorionic villus sampling Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003406.htm Heelstick Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003427.htm Hemoglobin Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003645.htm Karyotyping Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003935.htm Pregnanediol Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003914.htm Serum DHEA sulfate Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003717.htm Serum electrolytes Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003468.htm X-ray Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003337.htm

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Background Topics for Congenital Adrenal Hyperplasia Electrolyte Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002350.htm Enzyme Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002353.htm

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Hormone levels Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003445.htm Penis Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002279.htm Shock Web site: http://www.nlm.nih.gov/medlineplus/ency/article/000039.htm Testes Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002334.htm

Online Dictionary Directories The following are additional online directories compiled by the National Library of Medicine, including a number of specialized medical dictionaries: •

Medical Dictionaries: Medical & Biological (World Health Organization): http://www.who.int/hlt/virtuallibrary/English/diction.htm#Medical

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MEL-Michigan Electronic Library List of Online Health and Medical Dictionaries (Michigan Electronic Library): http://mel.lib.mi.us/health/health-dictionaries.html

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Patient Education: Glossaries (DMOZ Open Directory Project): http://dmoz.org/Health/Education/Patient_Education/Glossaries/

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Web of Online Dictionaries (Bucknell University): http://www.yourdictionary.com/diction5.html#medicine

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CONGENITAL ADRENAL HYPERPLASIA DICTIONARY The definitions below are derived from official public sources, including the National Institutes of Health [NIH] and the European Union [EU]. 17-Hydroxycorticosteroids: A group of hydroxycorticosteroids bearing a hydroxy group at the 17-position. Urinary excretion of these compounds is used as an index of adrenal function. They are used systemically in the free alcohol form, but with esterification of the hydroxy groups, topical effectiveness is increased. [NIH] Aberrant: Wandering or deviating from the usual or normal course. [EU] Abscess: A localized, circumscribed collection of pus. [NIH] Acetylcholine: A neurotransmitter. Acetylcholine in vertebrates is the major transmitter at neuromuscular junctions, autonomic ganglia, parasympathetic effector junctions, a subset of sympathetic effector junctions, and at many sites in the central nervous system. It is generally not used as an administered drug because it is broken down very rapidly by cholinesterases, but it is useful in some ophthalmological applications. [NIH] Acidosis: A pathologic condition resulting from accumulation of acid or depletion of the alkaline reserve (bicarbonate content) in the blood and body tissues, and characterized by an increase in hydrogen ion concentration. [EU] Acne: A disorder of the skin marked by inflammation of oil glands and hair glands. [NIH] Adenocarcinoma: A malignant epithelial tumor with a glandular organization. [NIH] Adenoma: A benign epithelial tumor with a glandular organization. [NIH] Adipocytes: Fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue. Fat is usually stored in the form of tryglycerides. [NIH] Adjustment: The dynamic process wherein the thoughts, feelings, behavior, and biophysiological mechanisms of the individual continually change to adjust to the environment. [NIH] Adrenal Cortex: The outer layer of the adrenal gland. It secretes mineralocorticoids, androgens, and glucocorticoids. [NIH] Adrenal Glands: Paired glands situated in the retroperitoneal tissues at the superior pole of each kidney. [NIH] Adrenal insufficiency: The reduced secretion of adrenal glands. [NIH] Adrenal Medulla: The inner part of the adrenal gland; it synthesizes, stores and releases catecholamines. [NIH] Adrenal Rest Tumor: A rare, usually benign, ovarian tumor thought to be derived from embryonic rest cells of the adrenals. This tumor causes various degrees of masculinization. [NIH]

Adrenergic: Activated by, characteristic of, or secreting epinephrine or substances with similar activity; the term is applied to those nerve fibres that liberate norepinephrine at a synapse when a nerve impulse passes, i.e., the sympathetic fibres. [EU] Adrenergic Antagonists: Drugs that bind to but do not activate adrenergic receptors. Adrenergic antagonists block the actions of the endogenous adrenergic transmitters epinephrine and norepinephrine. [NIH]

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Adverse Effect: An unwanted side effect of treatment. [NIH] Aerobic: In biochemistry, reactions that need oxygen to happen or happen when oxygen is present. [NIH] Afferent: Concerned with the transmission of neural impulse toward the central part of the nervous system. [NIH] Agenesis: Lack of complete or normal development; congenital absence of an organ or part. [NIH]

Aldosterone: (11 beta)-11,21-Dihydroxy-3,20-dioxopregn-4-en-18-al. A hormone secreted by the adrenal cortex that functions in the regulation of electrolyte and water balance by increasing the renal retention of sodium and the excretion of potassium. [NIH] Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task. [NIH] Alkaline: Having the reactions of an alkali. [EU] Alleles: Mutually exclusive forms of the same gene, occupying the same locus on homologous chromosomes, and governing the same biochemical and developmental process. [NIH] Alopecia: Absence of hair from areas where it is normally present. [NIH] Alternative medicine: Practices not generally recognized by the medical community as standard or conventional medical approaches and used instead of standard treatments. Alternative medicine includes the taking of dietary supplements, megadose vitamins, and herbal preparations; the drinking of special teas; and practices such as massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Amenorrhea: Absence of menstruation. [NIH] Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining protein conformation. [NIH] Amino Acids: Organic compounds that generally contain an amino (-NH2) and a carboxyl (COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. [NIH] Amino Acids: Organic compounds that generally contain an amino (-NH2) and a carboxyl (COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. [NIH] Amnion: The extraembryonic membrane which contains the embryo and amniotic fluid. [NIH]

Amniotic Fluid: Amniotic cavity fluid which is produced by the amnion and fetal lungs and kidneys. [NIH] Amplification: The production of additional copies of a chromosomal DNA sequence, found as either intrachromosomal or extrachromosomal DNA. [NIH] Amygdala: Almond-shaped group of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe. The amygdala is part of the limbic system. [NIH]

Anaesthesia: Loss of feeling or sensation. Although the term is used for loss of tactile sensibility, or of any of the other senses, it is applied especially to loss of the sensation of pain, as it is induced to permit performance of surgery or other painful procedures. [EU] Anal: Having to do with the anus, which is the posterior opening of the large bowel. [NIH] Analog: In chemistry, a substance that is similar, but not identical, to another. [NIH]

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Anaphylatoxins: The family of peptides C3a, C4a, C5a, and C5a des-arginine produced in the serum during complement activation. They produce smooth muscle contraction, mast cell histamine release, affect platelet aggregation, and act as mediators of the local inflammatory process. The order of anaphylatoxin activity from strongest to weakest is C5a, C3a, C4a, and C5a des-arginine. The latter is the so-called "classical" anaphylatoxin but shows no spasmogenic activity though it contains some chemotactic ability. [NIH] Anaplasia: Loss of structural differentiation and useful function of neoplastic cells. [NIH] Anatomical: Pertaining to anatomy, or to the structure of the organism. [EU] Androgenic: Producing masculine characteristics. [EU] Androgens: A class of sex hormones associated with the development and maintenance of the secondary male sex characteristics, sperm induction, and sexual differentiation. In addition to increasing virility and libido, they also increase nitrogen and water retention and stimulate skeletal growth. [NIH] Anesthesia: A state characterized by loss of feeling or sensation. This depression of nerve function is usually the result of pharmacologic action and is induced to allow performance of surgery or other painful procedures. [NIH] Anesthetics: Agents that are capable of inducing a total or partial loss of sensation, especially tactile sensation and pain. They may act to induce general anesthesia, in which an unconscious state is achieved, or may act locally to induce numbness or lack of sensation at a targeted site. [NIH] Aneuploidy: The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of chromosomes or chromosome pairs. In a normally diploid cell the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is monosomy (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is trisomy (symbol: 2N+1). [NIH] Angiotensinogen: An alpha-globulin of which a fragment of 14 amino acids is converted by renin to angiotensin I, the inactive precursor of angiotensin II. It is a member of the serpin superfamily. [NIH] Animal model: An animal with a disease either the same as or like a disease in humans. Animal models are used to study the development and progression of diseases and to test new treatments before they are given to humans. Animals with transplanted human cancers or other tissues are called xenograft models. [NIH] Annealing: The spontaneous alignment of two single DNA strands to form a double helix. [NIH]

Anomalies: Birth defects; abnormalities. [NIH] Anovulation: Suspension or cessation of ovulation in animals and humans. [NIH] Antiallergic: Counteracting allergy or allergic conditions. [EU] Antibacterial: A substance that destroys bacteria or suppresses their growth or reproduction. [EU] Antibiotic: A drug used to treat infections caused by bacteria and other microorganisms. [NIH]

Antibodies: Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the antigen that induced their synthesis in cells of the lymphoid series (especially plasma cells), or with an antigen closely related to it. [NIH] Antibody: A type of protein made by certain white blood cells in response to a foreign substance (antigen). Each antibody can bind to only a specific antigen. The purpose of this binding is to help destroy the antigen. Antibodies can work in several ways, depending on

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the nature of the antigen. Some antibodies destroy antigens directly. Others make it easier for white blood cells to destroy the antigen. [NIH] Antigen: Any substance which is capable, under appropriate conditions, of inducing a specific immune response and of reacting with the products of that response, that is, with specific antibody or specifically sensitized T-lymphocytes, or both. Antigens may be soluble substances, such as toxins and foreign proteins, or particulate, such as bacteria and tissue cells; however, only the portion of the protein or polysaccharide molecule known as the antigenic determinant (q.v.) combines with antibody or a specific receptor on a lymphocyte. Abbreviated Ag. [EU] Antigen-Antibody Complex: The complex formed by the binding of antigen and antibody molecules. The deposition of large antigen-antibody complexes leading to tissue damage causes immune complex diseases. [NIH] Anti-inflammatory: Having to do with reducing inflammation. [NIH] Anti-Inflammatory Agents: Substances that reduce or suppress inflammation. [NIH] Antineoplastic: Inhibiting or preventing the development of neoplasms, checking the maturation and proliferation of malignant cells. [EU] Anus: The opening of the rectum to the outside of the body. [NIH] Anxiety: Persistent feeling of dread, apprehension, and impending disaster. [NIH] Aqueous: Having to do with water. [NIH] Arginine: An essential amino acid that is physiologically active in the L-form. [NIH] Aromatase: An enzyme which converts androgens to estrogens by desaturating ring A of the steroid. This enzyme complex is located in the endoplasmic reticulum of estrogenproducing cells including ovaries, placenta, testicular Sertoli and Leydig cells, adipose, and brain tissues. The enzyme complex has two components, one of which is the CYP19 gene product, the aromatase cytochrome P-450. The other component is NADPH-cytochrome P450 reductase which transfers reducing equivalents to P-450(arom). EC 1.14.13.-. [NIH] Arterial: Pertaining to an artery or to the arteries. [EU] Assay: Determination of the amount of a particular constituent of a mixture, or of the biological or pharmacological potency of a drug. [EU] Atmospheric Pressure: The pressure at any point in an atmosphere due solely to the weight of the atmospheric gases above the point concerned. [NIH] Atresia: Lack of a normal opening from the esophagus, intestines, or anus. [NIH] Atrial: Pertaining to an atrium. [EU] Atrioventricular: Pertaining to an atrium of the heart and to a ventricle. [EU] Atrium: A chamber; used in anatomical nomenclature to designate a chamber affording entrance to another structure or organ. Usually used alone to designate an atrium of the heart. [EU] Atrophy: Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. [NIH] Attenuation: Reduction of transmitted sound energy or its electrical equivalent. [NIH] Azoospermia: Absence of spermatozoa in the semen, or failure of formation of spermatozoa. [EU]

Bacteria: Unicellular prokaryotic microorganisms which generally possess rigid cell walls, multiply by cell division, and exhibit three principal forms: round or coccal, rodlike or

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bacillary, and spiral or spirochetal. [NIH] Base: In chemistry, the nonacid part of a salt; a substance that combines with acids to form salts; a substance that dissociates to give hydroxide ions in aqueous solutions; a substance whose molecule or ion can combine with a proton (hydrogen ion); a substance capable of donating a pair of electrons (to an acid) for the formation of a coordinate covalent bond. [EU] Baths: The immersion or washing of the body or any of its parts in water or other medium for cleansing or medical treatment. It includes bathing for personal hygiene as well as for medical purposes with the addition of therapeutic agents, such as alkalines, antiseptics, oil, etc. [NIH] Benign: Not cancerous; does not invade nearby tissue or spread to other parts of the body. [NIH]

Bilateral: Affecting both the right and left side of body. [NIH] Bile: An emulsifying agent produced in the liver and secreted into the duodenum. Its composition includes bile acids and salts, cholesterol, and electrolytes. It aids digestion of fats in the duodenum. [NIH] Bioavailability: The degree to which a drug or other substance becomes available to the target tissue after administration. [EU] Biochemical: Relating to biochemistry; characterized by, produced by, or involving chemical reactions in living organisms. [EU] Bioequivalent: Having the same strength and similar bioavailability in the same dosage form as another specimen of a given drug substance. [EU] Biological Factors: Compounds made by living organisms that contribute to or influence a phenomenon or process. They have biological or physiological activities. [NIH] Biological therapy: Treatment to stimulate or restore the ability of the immune system to fight infection and disease. Also used to lessen side effects that may be caused by some cancer treatments. Also known as immunotherapy, biotherapy, or biological response modifier (BRM) therapy. [NIH] Biosynthesis: The building up of a chemical compound in the physiologic processes of a living organism. [EU] Biotechnology: Body of knowledge related to the use of organisms, cells or cell-derived constituents for the purpose of developing products which are technically, scientifically and clinically useful. Alteration of biologic function at the molecular level (i.e., genetic engineering) is a central focus; laboratory methods used include transfection and cloning technologies, sequence and structure analysis algorithms, computer databases, and gene and protein structure function analysis and prediction. [NIH] Bladder: The organ that stores urine. [NIH] Blood Coagulation: The process of the interaction of blood coagulation factors that results in an insoluble fibrin clot. [NIH] Blood pressure: The pressure of blood against the walls of a blood vessel or heart chamber. Unless there is reference to another location, such as the pulmonary artery or one of the heart chambers, it refers to the pressure in the systemic arteries, as measured, for example, in the forearm. [NIH] Blood vessel: A tube in the body through which blood circulates. Blood vessels include a network of arteries, arterioles, capillaries, venules, and veins. [NIH] Blot: To transfer DNA, RNA, or proteins to an immobilizing matrix such as nitrocellulose. [NIH]

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Body Composition: The relative amounts of various components in the body, such as percent body fat. [NIH] Body Mass Index: One of the anthropometric measures of body mass; it has the highest correlation with skinfold thickness or body density. [NIH] Bradykinin: A nonapeptide messenger that is enzymatically produced from kallidin in the blood where it is a potent but short-lived agent of arteriolar dilation and increased capillary permeability. Bradykinin is also released from mast cells during asthma attacks, from gut walls as a gastrointestinal vasodilator, from damaged tissues as a pain signal, and may be a neurotransmitter. [NIH] Broad Ligament: A broad fold of peritoneum that extends from the side of the uterus to the wall of the pelvis. [NIH] Bronchi: The larger air passages of the lungs arising from the terminal bifurcation of the trachea. [NIH] Calcium: A basic element found in nearly all organized tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes. [NIH] Calcium Channels: Voltage-dependent cell membrane glycoproteins selectively permeable to calcium ions. They are categorized as L-, T-, N-, P-, Q-, and R-types based on the activation and inactivation kinetics, ion specificity, and sensitivity to drugs and toxins. The L- and T-types are present throughout the cardiovascular and central nervous systems and the N-, P-, Q-, & R-types are located in neuronal tissue. [NIH] Carbenoxolone: An agent derived from licorice root. It is used for the treatment of digestive tract ulcers, especially in the stomach. Antidiuretic side effects are frequent, but otherwise the drug is low in toxicity. [NIH] Carbohydrate: An aldehyde or ketone derivative of a polyhydric alcohol, particularly of the pentahydric and hexahydric alcohols. They are so named because the hydrogen and oxygen are usually in the proportion to form water, (CH2O)n. The most important carbohydrates are the starches, sugars, celluloses, and gums. They are classified into mono-, di-, tri-, polyand heterosaccharides. [EU] Carcinogenic: Producing carcinoma. [EU] Carcinoma: Cancer that begins in the skin or in tissues that line or cover internal organs. [NIH]

Cardiac: Having to do with the heart. [NIH] Cardiomyopathy: A general diagnostic term designating primary myocardial disease, often of obscure or unknown etiology. [EU] Cardiovascular: Having to do with the heart and blood vessels. [NIH] Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes. [NIH] Case report: A detailed report of the diagnosis, treatment, and follow-up of an individual patient. Case reports also contain some demographic information about the patient (for example, age, gender, ethnic origin). [NIH] Catheterization: Use or insertion of a tubular device into a duct, blood vessel, hollow organ, or body cavity for injecting or withdrawing fluids for diagnostic or therapeutic purposes. It differs from intubation in that the tube here is used to restore or maintain patency in

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obstructions. [NIH] Caudal: Denoting a position more toward the cauda, or tail, than some specified point of reference; same as inferior, in human anatomy. [EU] Causality: The relating of causes to the effects they produce. Causes are termed necessary when they must always precede an effect and sufficient when they initiate or produce an effect. Any of several factors may be associated with the potential disease causation or outcome, including predisposing factors, enabling factors, precipitating factors, reinforcing factors, and risk factors. [NIH] Cell: The individual unit that makes up all of the tissues of the body. All living things are made up of one or more cells. [NIH] Cell Differentiation: Progressive restriction of the developmental potential and increasing specialization of function which takes place during the development of the embryo and leads to the formation of specialized cells, tissues, and organs. [NIH] Cell Division: The fission of a cell. [NIH] Cell membrane: Cell membrane = plasma membrane. The structure enveloping a cell, enclosing the cytoplasm, and forming a selective permeability barrier; it consists of lipids, proteins, and some carbohydrates, the lipids thought to form a bilayer in which integral proteins are embedded to varying degrees. [EU] Cell proliferation: An increase in the number of cells as a result of cell growth and cell division. [NIH] Cell Respiration: The metabolic process of all living cells (animal and plant) in which oxygen is used to provide a source of energy for the cell. [NIH] Cell Survival: The span of viability of a cell characterized by the capacity to perform certain functions such as metabolism, growth, reproduction, some form of responsiveness, and adaptability. [NIH] Central Nervous System: The main information-processing organs of the nervous system, consisting of the brain, spinal cord, and meninges. [NIH] Cerebral: Of or pertaining of the cerebrum or the brain. [EU] Cerebrospinal: Pertaining to the brain and spinal cord. [EU] Cerebrospinal fluid: CSF. The fluid flowing around the brain and spinal cord. Cerebrospinal fluid is produced in the ventricles in the brain. [NIH] Chemotactic Factors: Chemical substances that attract or repel cells or organisms. The concept denotes especially those factors released as a result of tissue injury, invasion, or immunologic activity, that attract leukocytes, macrophages, or other cells to the site of infection or insult. [NIH] Chiasma: An anatomy term for an X-shaped crossing (for example, of nerves or tendons.) [NIH]

Chin: The anatomical frontal portion of the mandible, also known as the mentum, that contains the line of fusion of the two separate halves of the mandible (symphysis menti). This line of fusion divides inferiorly to enclose a triangular area called the mental protuberance. On each side, inferior to the second premolar tooth, is the mental foramen for the passage of blood vessels and a nerve. [NIH] Cholesterol: The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils. [NIH] Choroid: The thin, highly vascular membrane covering most of the posterior of the eye between the retina and sclera. [NIH]

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Chromosomal: Pertaining to chromosomes. [EU] Chromosome: Part of a cell that contains genetic information. Except for sperm and eggs, all human cells contain 46 chromosomes. [NIH] Chronic: A disease or condition that persists or progresses over a long period of time. [NIH] Chronic Disease: Disease or ailment of long duration. [NIH] Chronic renal: Slow and progressive loss of kidney function over several years, often resulting in end-stage renal disease. People with end-stage renal disease need dialysis or transplantation to replace the work of the kidneys. [NIH] Clear cell carcinoma: A rare type of tumor of the female genital tract in which the inside of the cells looks clear when viewed under a microscope. [NIH] Clinical trial: A research study that tests how well new medical treatments or other interventions work in people. Each study is designed to test new methods of screening, prevention, diagnosis, or treatment of a disease. [NIH] Clitoral: Pertaining to the clitoris. [EU] Cloning: The production of a number of genetically identical individuals; in genetic engineering, a process for the efficient replication of a great number of identical DNA molecules. [NIH] Codon: A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (codon, terminator). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, transfer) complementary to all codons. These codons are referred to as unassigned codons (codons, nonsense). [NIH] Cognition: Intellectual or mental process whereby an organism becomes aware of or obtains knowledge. [NIH] Collagen: A polypeptide substance comprising about one third of the total protein in mammalian organisms. It is the main constituent of skin, connective tissue, and the organic substance of bones and teeth. Different forms of collagen are produced in the body but all consist of three alpha-polypeptide chains arranged in a triple helix. Collagen is differentiated from other fibrous proteins, such as elastin, by the content of proline, hydroxyproline, and hydroxylysine; by the absence of tryptophan; and particularly by the high content of polar groups which are responsible for its swelling properties. [NIH] Collagen disease: A term previously used to describe chronic diseases of the connective tissue (e.g., rheumatoid arthritis, systemic lupus erythematosus, and systemic sclerosis), but now is thought to be more appropriate for diseases associated with defects in collagen, which is a component of the connective tissue. [NIH] Colloidal: Of the nature of a colloid. [EU] Complement: A term originally used to refer to the heat-labile factor in serum that causes immune cytolysis, the lysis of antibody-coated cells, and now referring to the entire functionally related system comprising at least 20 distinct serum proteins that is the effector not only of immune cytolysis but also of other biologic functions. Complement activation occurs by two different sequences, the classic and alternative pathways. The proteins of the classic pathway are termed 'components of complement' and are designated by the symbols C1 through C9. C1 is a calcium-dependent complex of three distinct proteins C1q, C1r and C1s. The proteins of the alternative pathway (collectively referred to as the properdin system) and complement regulatory proteins are known by semisystematic or trivial names. Fragments resulting from proteolytic cleavage of complement proteins are designated with lower-case letter suffixes, e.g., C3a. Inactivated fragments may be designated with the suffix 'i', e.g. C3bi. Activated components or complexes with biological activity are designated by a

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bar over the symbol e.g. C1 or C4b,2a. The classic pathway is activated by the binding of C1 to classic pathway activators, primarily antigen-antibody complexes containing IgM, IgG1, IgG3; C1q binds to a single IgM molecule or two adjacent IgG molecules. The alternative pathway can be activated by IgA immune complexes and also by nonimmunologic materials including bacterial endotoxins, microbial polysaccharides, and cell walls. Activation of the classic pathway triggers an enzymatic cascade involving C1, C4, C2 and C3; activation of the alternative pathway triggers a cascade involving C3 and factors B, D and P. Both result in the cleavage of C5 and the formation of the membrane attack complex. Complement activation also results in the formation of many biologically active complement fragments that act as anaphylatoxins, opsonins, or chemotactic factors. [EU] Complementary and alternative medicine: CAM. Forms of treatment that are used in addition to (complementary) or instead of (alternative) standard treatments. These practices are not considered standard medical approaches. CAM includes dietary supplements, megadose vitamins, herbal preparations, special teas, massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Complementary medicine: Practices not generally recognized by the medical community as standard or conventional medical approaches and used to enhance or complement the standard treatments. Complementary medicine includes the taking of dietary supplements, megadose vitamins, and herbal preparations; the drinking of special teas; and practices such as massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Compliance: Distensibility measure of a chamber such as the lungs (lung compliance) or bladder. Compliance is expressed as a change in volume per unit change in pressure. [NIH] Computational Biology: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories applicable to molecular biology and areas of computer-based techniques for solving biological problems including manipulation of models and datasets. [NIH] Conception: The onset of pregnancy, marked by implantation of the blastocyst; the formation of a viable zygote. [EU] Confounding: Extraneous variables resulting in outcome effects that obscure or exaggerate the "true" effect of an intervention. [NIH] Conjugated: Acting or operating as if joined; simultaneous. [EU] Connective Tissue: Tissue that supports and binds other tissues. It consists of connective tissue cells embedded in a large amount of extracellular matrix. [NIH] Connective Tissue: Tissue that supports and binds other tissues. It consists of connective tissue cells embedded in a large amount of extracellular matrix. [NIH] Contractility: Capacity for becoming short in response to a suitable stimulus. [EU] Contraindications: Any factor or sign that it is unwise to pursue a certain kind of action or treatment, e. g. giving a general anesthetic to a person with pneumonia. [NIH] Cor: The muscular organ that maintains the circulation of the blood. c. adiposum a heart that has undergone fatty degeneration or that has an accumulation of fat around it; called also fat or fatty, heart. c. arteriosum the left side of the heart, so called because it contains oxygenated (arterial) blood. c. biloculare a congenital anomaly characterized by failure of formation of the atrial and ventricular septums, the heart having only two chambers, a single atrium and a single ventricle, and a common atrioventricular valve. c. bovinum (L. 'ox heart') a greatly enlarged heart due to a hypertrophied left ventricle; called also c. taurinum and bucardia. c. dextrum (L. 'right heart') the right atrium and ventricle. c. hirsutum, c. villosum. c. mobile (obs.) an abnormally movable heart. c. pendulum a heart so movable that

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it seems to be hanging by the great blood vessels. c. pseudotriloculare biatriatum a congenital cardiac anomaly in which the heart functions as a three-chambered heart because of tricuspid atresia, the right ventricle being extremely small or rudimentary and the right atrium greatly dilated. Blood passes from the right to the left atrium and thence disease due to pulmonary hypertension secondary to disease of the lung, or its blood vessels, with hypertrophy of the right ventricle. [EU] Corpus: The body of the uterus. [NIH] Corpus Luteum: The yellow glandular mass formed in the ovary by an ovarian follicle that has ruptured and discharged its ovum. [NIH] Cortex: The outer layer of an organ or other body structure, as distinguished from the internal substance. [EU] Cortical: Pertaining to or of the nature of a cortex or bark. [EU] Corticosteroid: Any of the steroids elaborated by the adrenal cortex (excluding the sex hormones of adrenal origin) in response to the release of corticotrophin (adrenocorticotropic hormone) by the pituitary gland, to any of the synthetic equivalents of these steroids, or to angiotensin II. They are divided, according to their predominant biological activity, into three major groups: glucocorticoids, chiefly influencing carbohydrate, fat, and protein metabolism; mineralocorticoids, affecting the regulation of electrolyte and water balance; and C19 androgens. Some corticosteroids exhibit both types of activity in varying degrees, and others exert only one type of effect. The corticosteroids are used clinically for hormonal replacement therapy, for suppression of ACTH secretion by the anterior pituitary, as antineoplastic, antiallergic, and anti-inflammatory agents, and to suppress the immune response. Called also adrenocortical hormone and corticoid. [EU] Cortisol: A steroid hormone secreted by the adrenal cortex as part of the body's response to stress. [NIH] Cortisone: A natural steroid hormone produced in the adrenal gland. It can also be made in the laboratory. Cortisone reduces swelling and can suppress immune responses. [NIH] Crossing-over: The exchange of corresponding segments between chromatids of homologous chromosomes during meiosia, forming a chiasma. [NIH] Cyclic: Pertaining to or occurring in a cycle or cycles; the term is applied to chemical compounds that contain a ring of atoms in the nucleus. [EU] Cyproterone: An anti-androgen that, in the form of its acetate, also has progestational properties. It is used in the treatment of hypersexuality in males, as a palliative in prostatic carcinoma, and, in combination with estrogen, for the therapy of severe acne and hirsutism in females. [NIH] Cytochrome: Any electron transfer hemoprotein having a mode of action in which the transfer of a single electron is effected by a reversible valence change of the central iron atom of the heme prosthetic group between the +2 and +3 oxidation states; classified as cytochromes a in which the heme contains a formyl side chain, cytochromes b, which contain protoheme or a closely similar heme that is not covalently bound to the protein, cytochromes c in which protoheme or other heme is covalently bound to the protein, and cytochromes d in which the iron-tetrapyrrole has fewer conjugated double bonds than the hemes have. Well-known cytochromes have been numbered consecutively within groups and are designated by subscripts (beginning with no subscript), e.g. cytochromes c, c1, C2, . New cytochromes are named according to the wavelength in nanometres of the absorption maximum of the a-band of the iron (II) form in pyridine, e.g., c-555. [EU] Cytotoxic: Cell-killing. [NIH]

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Dehydroepiandrosterone: DHEA. A substance that is being studied as a cancer prevention drug. It belongs to the family of drugs called steroids. [NIH] Deletion: A genetic rearrangement through loss of segments of DNA (chromosomes), bringing sequences, which are normally separated, into close proximity. [NIH] Denaturation: Rupture of the hydrogen bonds by heating a DNA solution and then cooling it rapidly causes the two complementary strands to separate. [NIH] Depolarization: The process or act of neutralizing polarity. In neurophysiology, the reversal of the resting potential in excitable cell membranes when stimulated, i.e., the tendency of the cell membrane potential to become positive with respect to the potential outside the cell. [EU] Developmental Biology: The field of biology which deals with the process of the growth and differentiation of an organism. [NIH] Dexamethasone: (11 beta,16 alpha)-9-Fluoro-11,17,21-trihydroxy-16-methylpregna-1,4diene-3,20-dione. An anti-inflammatory glucocorticoid used either in the free alcohol or esterified form in treatment of conditions that respond generally to cortisone. [NIH] Diabetes Mellitus: A heterogeneous group of disorders that share glucose intolerance in common. [NIH] Diagnostic procedure: A method used to identify a disease. [NIH] Diastolic: Of or pertaining to the diastole. [EU] Digestion: The process of breakdown of food for metabolism and use by the body. [NIH] Digestive tract: The organs through which food passes when food is eaten. These organs are the mouth, esophagus, stomach, small and large intestines, and rectum. [NIH] Dihydrotestosterone: Anabolic agent. [NIH] Diploid: Having two sets of chromosomes. [NIH] Direct: 1. Straight; in a straight line. 2. Performed immediately and without the intervention of subsidiary means. [EU] Dissociation: 1. The act of separating or state of being separated. 2. The separation of a molecule into two or more fragments (atoms, molecules, ions, or free radicals) produced by the absorption of light or thermal energy or by solvation. 3. In psychology, a defense mechanism in which a group of mental processes are segregated from the rest of a person's mental activity in order to avoid emotional distress, as in the dissociative disorders (q.v.), or in which an idea or object is segregated from its emotional significance; in the first sense it is roughly equivalent to splitting, in the second, to isolation. 4. A defect of mental integration in which one or more groups of mental processes become separated off from normal consciousness and, thus separated, function as a unitary whole. [EU] Distal: Remote; farther from any point of reference; opposed to proximal. In dentistry, used to designate a position on the dental arch farther from the median line of the jaw. [EU] Dorsal: 1. Pertaining to the back or to any dorsum. 2. Denoting a position more toward the back surface than some other object of reference; same as posterior in human anatomy; superior in the anatomy of quadrupeds. [EU] Drug Tolerance: Progressive diminution of the susceptibility of a human or animal to the effects of a drug, resulting from its continued administration. It should be differentiated from drug resistance wherein an organism, disease, or tissue fails to respond to the intended effectiveness of a chemical or drug. It should also be differentiated from maximum tolerated dose and no-observed-adverse-effect level. [NIH] Duct: A tube through which body fluids pass. [NIH] Effector: It is often an enzyme that converts an inactive precursor molecule into an active

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second messenger. [NIH] Efferent: Nerve fibers which conduct impulses from the central nervous system to muscles and glands. [NIH] Efficacy: The extent to which a specific intervention, procedure, regimen, or service produces a beneficial result under ideal conditions. Ideally, the determination of efficacy is based on the results of a randomized control trial. [NIH] Elastin: The protein that gives flexibility to tissues. [NIH] Electrolyte: A substance that dissociates into ions when fused or in solution, and thus becomes capable of conducting electricity; an ionic solute. [EU] Electrons: Stable elementary particles having the smallest known negative charge, present in all elements; also called negatrons. Positively charged electrons are called positrons. The numbers, energies and arrangement of electrons around atomic nuclei determine the chemical identities of elements. Beams of electrons are called cathode rays or beta rays, the latter being a high-energy biproduct of nuclear decay. [NIH] Electrophoresis: An electrochemical process in which macromolecules or colloidal particles with a net electric charge migrate in a solution under the influence of an electric current. [NIH]

Embryo: The prenatal stage of mammalian development characterized by rapid morphological changes and the differentiation of basic structures. [NIH] Endocrine Glands: Ductless glands that secrete substances which are released directly into the circulation and which influence metabolism and other body functions. [NIH] Endogenous: Produced inside an organism or cell. The opposite is external (exogenous) production. [NIH] Endometrium: The layer of tissue that lines the uterus. [NIH] Endothelium: A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body. [NIH] Endothelium-derived: Small molecule that diffuses to the adjacent muscle layer and relaxes it. [NIH] Endotoxins: Toxins closely associated with the living cytoplasm or cell wall of certain microorganisms, which do not readily diffuse into the culture medium, but are released upon lysis of the cells. [NIH] End-stage renal: Total chronic kidney failure. When the kidneys fail, the body retains fluid and harmful wastes build up. A person with ESRD needs treatment to replace the work of the failed kidneys. [NIH] Energy balance: Energy is the capacity of a body or a physical system for doing work. Energy balance is the state in which the total energy intake equals total energy needs. [NIH] Environmental Health: The science of controlling or modifying those conditions, influences, or forces surrounding man which relate to promoting, establishing, and maintaining health. [NIH]

Enzymatic: Phase where enzyme cuts the precursor protein. [NIH] Enzyme: A protein that speeds up chemical reactions in the body. [NIH] Enzyme Induction: An increase in the rate of synthesis of an enzyme due to the presence of an inducer which acts to derepress the gene responsible for enzyme synthesis. [NIH] Epinephrine: The active sympathomimetic hormone from the adrenal medulla in most species. It stimulates both the alpha- and beta- adrenergic systems, causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi

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and cerebral vessels. It is used in asthma and cardiac failure and to delay absorption of local anesthetics. [NIH] Epithelial: Refers to the cells that line the internal and external surfaces of the body. [NIH] Epithelial Cells: Cells that line the inner and outer surfaces of the body. [NIH] Esophagus: The muscular tube through which food passes from the throat to the stomach. [NIH]

Esterification: The process of converting an acid into an alkyl or aryl derivative. Most frequently the process consists of the reaction of an acid with an alcohol in the presence of a trace of mineral acid as catalyst or the reaction of an acyl chloride with an alcohol. Esterification can also be accomplished by enzymatic processes. [NIH] Estradiol: The most potent mammalian estrogenic hormone. It is produced in the ovary, placenta, testis, and possibly the adrenal cortex. [NIH] Estrogen: One of the two female sex hormones. [NIH] Excrete: To get rid of waste from the body. [NIH] Exogenous: Developed or originating outside the organism, as exogenous disease. [EU] Exon: The part of the DNA that encodes the information for the actual amino acid sequence of the protein. In many eucaryotic genes, the coding sequences consist of a series of exons alternating with intron sequences. [NIH] Facial: Of or pertaining to the face. [EU] Fallopian tube: The oviduct, a muscular tube about 10 cm long, lying in the upper border of the broad ligament. [NIH] Family Planning: Programs or services designed to assist the family in controlling reproduction by either improving or diminishing fertility. [NIH] Fat: Total lipids including phospholipids. [NIH] Fetus: The developing offspring from 7 to 8 weeks after conception until birth. [NIH] Fluorescence: The property of emitting radiation while being irradiated. The radiation emitted is usually of longer wavelength than that incident or absorbed, e.g., a substance can be irradiated with invisible radiation and emit visible light. X-ray fluorescence is used in diagnosis. [NIH] Flutamide: An antiandrogen with about the same potency as cyproterone in rodent and canine species. [NIH] Follicles: Shafts through which hair grows. [NIH] Follicular Atresia: The degeneration and resorption of an ovarian follicle before it reaches maturity and ruptures. [NIH] Founder Effect: The principle that when a small subgroup of a larger population establishes itself as a separate and isolated entity, its gene pool carries only a fraction of the genetic diversity of the parental population. This may result in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive. [NIH] Friction: Surface resistance to the relative motion of one body against the rubbing, sliding, rolling, or flowing of another with which it is in contact. [NIH] Gas: Air that comes from normal breakdown of food. The gases are passed out of the body through the rectum (flatus) or the mouth (burp). [NIH] Gastrin: A hormone released after eating. Gastrin causes the stomach to produce more acid. [NIH]

Gastrointestinal: Refers to the stomach and intestines. [NIH]

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Gastrointestinal tract: The stomach and intestines. [NIH] Gene: The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein. [NIH]

Gene Amplification: A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication. [NIH] Gene Conversion: The asymmetrical segregation of genes during replication which leads to the production of non-reciprocal recombinant strands and the apparent conversion of one allele into another. Thus, e.g., the meiotic products of an Aa individual may be AAAa or aaaA instead of AAaa, i.e., the A allele has been converted into the a allele or vice versa. [NIH]

Gene Dosage: The number of copies of a given gene present in a cell or nucleus. An increase in gene dosage can result in the formation of higher levels of gene product, provided that the gene is not subject to autogenous regulation. [NIH] Gene Expression: The phenotypic manifestation of a gene or genes by the processes of gene action. [NIH] Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development. [NIH] Genetic Code: The specifications for how information, stored in nucleic acid sequence (base sequence), is translated into protein sequence (amino acid sequence). The start, stop, and order of amino acids of a protein is specified by consecutive triplets of nucleotides called codons (codon). [NIH] Genetic Engineering: Directed modification of the gene complement of a living organism by such techniques as altering the DNA, substituting genetic material by means of a virus, transplanting whole nuclei, transplanting cell hybrids, etc. [NIH] Genetic testing: Analyzing DNA to look for a genetic alteration that may indicate an increased risk for developing a specific disease or disorder. [NIH] Genetics: The biological science that deals with the phenomena and mechanisms of heredity. [NIH] Genital: Pertaining to the genitalia. [EU] Genotype: The genetic constitution of the individual; the characterization of the genes. [NIH] Germ Cells: The reproductive cells in multicellular organisms. [NIH] Germinoma: The most frequent type of germ-cell tumor in the brain. [NIH] Gestation: The period of development of the young in viviparous animals, from the time of fertilization of the ovum until birth. [EU] Gestational: Psychosis attributable to or occurring during pregnancy. [NIH] Gestational Age: Age of the conceptus. In humans, this may be assessed by medical history, physical examination, early immunologic pregnancy tests, radiography, ultrasonography, and amniotic fluid analysis. [NIH]

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Gland: An organ that produces and releases one or more substances for use in the body. Some glands produce fluids that affect tissues or organs. Others produce hormones or participate in blood production. [NIH] Glucocorticoid: A compound that belongs to the family of compounds called corticosteroids (steroids). Glucocorticoids affect metabolism and have anti-inflammatory and immunosuppressive effects. They may be naturally produced (hormones) or synthetic (drugs). [NIH] Glucose: D-Glucose. A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement. [NIH] Glucose Intolerance: A pathological state in which the fasting plasma glucose level is less than 140 mg per deciliter and the 30-, 60-, or 90-minute plasma glucose concentration following a glucose tolerance test exceeds 200 mg per deciliter. This condition is seen frequently in diabetes mellitus but also occurs with other diseases. [NIH] Glucose tolerance: The power of the normal liver to absorb and store large quantities of glucose and the effectiveness of intestinal absorption of glucose. The glucose tolerance test is a metabolic test of carbohydrate tolerance that measures active insulin, a hepatic function based on the ability of the liver to absorb glucose. The test consists of ingesting 100 grams of glucose into a fasting stomach; blood sugar should return to normal in 2 to 21 hours after ingestion. [NIH] Glucose Tolerance Test: Determination of whole blood or plasma sugar in a fasting state before and at prescribed intervals (usually 1/2 hr, 1 hr, 3 hr, 4 hr) after taking a specified amount (usually 100 gm orally) of glucose. [NIH] Glycogen: A sugar stored in the liver and muscles. It releases glucose into the blood when cells need it for energy. Glycogen is the chief source of stored fuel in the body. [NIH] Glycoproteins: Conjugated protein-carbohydrate compounds including mucins, mucoid, and amyloid glycoproteins. [NIH] Glycosidic: Formed by elimination of water between the anomeric hydroxyl of one sugar and a hydroxyl of another sugar molecule. [NIH] Gonad: A sex organ, such as an ovary or a testicle, which produces the gametes in most multicellular animals. [NIH] Gonadal: Pertaining to a gonad. [EU] Gonadorelin: A decapeptide hormone released by the hypothalamus. It stimulates the synthesis and secretion of both follicle-stimulating hormone (FSH) and luteinizing hormone (LH) from the pituitary gland. [NIH] Gonadotropin: The water-soluble follicle stimulating substance, by some believed to originate in chorionic tissue, obtained from the serum of pregnant mares. It is used to supplement the action of estrogens. [NIH] Governing Board: The group in which legal authority is vested for the control of healthrelated institutions and organizations. [NIH] Granulocytes: Leukocytes with abundant granules in the cytoplasm. They are divided into three groups: neutrophils, eosinophils, and basophils. [NIH] Growth factors: Substances made by the body that function to regulate cell division and cell survival. Some growth factors are also produced in the laboratory and used in biological therapy. [NIH] Guanylate Cyclase: An enzyme that catalyzes the conversion of GTP to 3',5'-cyclic GMP and

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pyrophosphate. It also acts on ITP and dGTP. (From Enzyme Nomenclature, 1992) EC 4.6.1.2. [NIH] Half-Life: The time it takes for a substance (drug, radioactive nuclide, or other) to lose half of its pharmacologic, physiologic, or radiologic activity. [NIH] Handedness: Preference for using right or left hand. [NIH] Haptens: Small antigenic determinants capable of eliciting an immune response only when coupled to a carrier. Haptens bind to antibodies but by themselves cannot elicit an antibody response. [NIH] Heredity: 1. The genetic transmission of a particular quality or trait from parent to offspring. 2. The genetic constitution of an individual. [EU] Heterogeneity: The property of one or more samples or populations which implies that they are not identical in respect of some or all of their parameters, e. g. heterogeneity of variance. [NIH]

Heterozygote: An individual having different alleles at one or more loci in homologous chromosome segments. [NIH] Hirsutism: Excess hair in females and children with an adult male pattern of distribution. The concept does not include hypertrichosis, which is localized or generalized excess hair. [NIH]

Homeostasis: The processes whereby the internal environment of an organism tends to remain balanced and stable. [NIH] Homologous: Corresponding in structure, position, origin, etc., as (a) the feathers of a bird and the scales of a fish, (b) antigen and its specific antibody, (c) allelic chromosomes. [EU] Hormonal: Pertaining to or of the nature of a hormone. [EU] Hormone: A substance in the body that regulates certain organs. Hormones such as gastrin help in breaking down food. Some hormones come from cells in the stomach and small intestine. [NIH] Hormone therapy: Treatment of cancer by removing, blocking, or adding hormones. Also called endocrine therapy. [NIH] Hybrid: Cross fertilization between two varieties or, more usually, two species of vines, see also crossing. [NIH] Hybridization: The genetic process of crossbreeding to produce a hybrid. Hybrid nucleic acids can be formed by nucleic acid hybridization of DNA and RNA molecules. Protein hybridization allows for hybrid proteins to be formed from polypeptide chains. [NIH] Hydrocortisone: The main glucocorticoid secreted by the adrenal cortex. Its synthetic counterpart is used, either as an injection or topically, in the treatment of inflammation, allergy, collagen diseases, asthma, adrenocortical deficiency, shock, and some neoplastic conditions. [NIH] Hydrogen: The first chemical element in the periodic table. It has the atomic symbol H, atomic number 1, and atomic weight 1. It exists, under normal conditions, as a colorless, odorless, tasteless, diatomic gas. Hydrogen ions are protons. Besides the common H1 isotope, hydrogen exists as the stable isotope deuterium and the unstable, radioactive isotope tritium. [NIH] Hydrophobic: Not readily absorbing water, or being adversely affected by water, as a hydrophobic colloid. [EU] Hydroxycorticosteroids: A group of corticosteroids carrying hydroxy groups, usually in the 11- or 17-positions. They comprise the bulk of the corticosteroids used systemically. As they

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are relatively insoluble in water, salts of various esterified forms are often used for injections or solutions. [NIH] Hydroxylation: Hydroxylate, to introduce hydroxyl into (a compound or radical) usually by replacement of hydrogen. [EU] Hydroxylysine: A hydroxylated derivative of the amino acid lysine that is present in certain collagens. [NIH] Hydroxyproline: A hydroxylated form of the imino acid proline. A deficiency in ascorbic acid can result in impaired hydroxyproline formation. [NIH] Hyperandrogenism: A state characterized or caused by an excessive secretion of androgens by the adrenal cortex, ovaries, or testes. The clinical significance in males is negligible, so the term is used most commonly with reference to the female. The common manifestations in women are hirsutism and virilism. It is often caused by ovarian disease (particularly the polycystic ovary syndrome) and by adrenal diseases (particularly adrenal gland hyperfunction). [NIH] Hyperplasia: An increase in the number of cells in a tissue or organ, not due to tumor formation. It differs from hypertrophy, which is an increase in bulk without an increase in the number of cells. [NIH] Hypersecretion: Excessive secretion. [EU] Hypertension: Persistently high arterial blood pressure. Currently accepted threshold levels are 140 mm Hg systolic and 90 mm Hg diastolic pressure. [NIH] Hyperthyroidism: Excessive functional activity of the thyroid gland. [NIH] Hypertrichosis: Localized or generalized excess hair. The concept does not include hirsutism, which is excess hair in females and children with an adult male pattern of distribution. [NIH] Hypertrophy: General increase in bulk of a part or organ, not due to tumor formation, nor to an increase in the number of cells. [NIH] Hypogonadism: Condition resulting from or characterized by abnormally decreased functional activity of the gonads, with retardation of growth and sexual development. [NIH] Hypothalamic: Of or involving the hypothalamus. [EU] Hypothalamus: Ventral part of the diencephalon extending from the region of the optic chiasm to the caudal border of the mammillary bodies and forming the inferior and lateral walls of the third ventricle. [NIH] Hysterectomy: Excision of the uterus. [NIH] Immersion: The placing of a body or a part thereof into a liquid. [NIH] Immune response: The activity of the immune system against foreign substances (antigens). [NIH]

Immune system: The organs, cells, and molecules responsible for the recognition and disposal of foreign ("non-self") material which enters the body. [NIH] Immunity: Nonsusceptibility to the invasive or pathogenic microorganisms or to the toxic effect of antigenic substances. [NIH]

effects

of

foreign

Immunogenic: Producing immunity; evoking an immune response. [EU] Immunologic: The ability of the antibody-forming system to recall a previous experience with an antigen and to respond to a second exposure with the prompt production of large amounts of antibody. [NIH] Immunosuppressive: Describes the ability to lower immune system responses. [NIH]

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Impairment: In the context of health experience, an impairment is any loss or abnormality of psychological, physiological, or anatomical structure or function. [NIH] In vitro: In the laboratory (outside the body). The opposite of in vivo (in the body). [NIH] In vivo: In the body. The opposite of in vitro (outside the body or in the laboratory). [NIH] Induction: The act or process of inducing or causing to occur, especially the production of a specific morphogenetic effect in the developing embryo through the influence of evocators or organizers, or the production of anaesthesia or unconsciousness by use of appropriate agents. [EU] Infancy: The period of complete dependency prior to the acquisition of competence in walking, talking, and self-feeding. [NIH] Infection: 1. Invasion and multiplication of microorganisms in body tissues, which may be clinically unapparent or result in local cellular injury due to competitive metabolism, toxins, intracellular replication, or antigen-antibody response. The infection may remain localized, subclinical, and temporary if the body's defensive mechanisms are effective. A local infection may persist and spread by extension to become an acute, subacute, or chronic clinical infection or disease state. A local infection may also become systemic when the microorganisms gain access to the lymphatic or vascular system. 2. An infectious disease. [EU]

Infertility: The diminished or absent ability to conceive or produce an offspring while sterility is the complete inability to conceive or produce an offspring. [NIH] Inflammation: A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function. [NIH] Information Science: The field of knowledge, theory, and technology dealing with the collection of facts and figures, and the processes and methods involved in their manipulation, storage, dissemination, publication, and retrieval. It includes the fields of communication, publishing, library science and informatics. [NIH] Initiation: Mutation induced by a chemical reactive substance causing cell changes; being a step in a carcinogenic process. [NIH] Insulin: A protein hormone secreted by beta cells of the pancreas. Insulin plays a major role in the regulation of glucose metabolism, generally promoting the cellular utilization of glucose. It is also an important regulator of protein and lipid metabolism. Insulin is used as a drug to control insulin-dependent diabetes mellitus. [NIH] Insulin-dependent diabetes mellitus: A disease characterized by high levels of blood glucose resulting from defects in insulin secretion, insulin action, or both. Autoimmune, genetic, and environmental factors are involved in the development of type I diabetes. [NIH] Insulin-like: Muscular growth factor. [NIH] Interpersonal Relations: The reciprocal interaction of two or more persons. [NIH] Interstitial: Pertaining to or situated between parts or in the interspaces of a tissue. [EU] Intestines: The section of the alimentary canal from the stomach to the anus. It includes the large intestine and small intestine. [NIH] Intracellular: Inside a cell. [NIH] Intubation: Introduction of a tube into a hollow organ to restore or maintain patency if obstructed. It is differentiated from catheterization in that the insertion of a catheter is usually performed for the introducing or withdrawing of fluids from the body. [NIH] Invasive: 1. Having the quality of invasiveness. 2. Involving puncture or incision of the skin

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or insertion of an instrument or foreign material into the body; said of diagnostic techniques. [EU]

Ion Transport: The movement of ions across energy-transducing cell membranes. Transport can be active or passive. Passive ion transport (facilitated diffusion) derives its energy from the concentration gradient of the ion itself and allows the transport of a single solute in one direction (uniport). Active ion transport is usually coupled to an energy-yielding chemical or photochemical reaction such as ATP hydrolysis. This form of primary active transport is called an ion pump. Secondary active transport utilizes the voltage and ion gradients produced by the primary transport to drive the cotransport of other ions or molecules. These may be transported in the same (symport) or opposite (antiport) direction. [NIH] Ionization: 1. Any process by which a neutral atom gains or loses electrons, thus acquiring a net charge, as the dissociation of a substance in solution into ions or ion production by the passage of radioactive particles. 2. Iontophoresis. [EU] Ions: An atom or group of atoms that have a positive or negative electric charge due to a gain (negative charge) or loss (positive charge) of one or more electrons. Atoms with a positive charge are known as cations; those with a negative charge are anions. [NIH] Ischemia: Deficiency of blood in a part, due to functional constriction or actual obstruction of a blood vessel. [EU] Isoenzyme: Different forms of an enzyme, usually occurring in different tissues. The isoenzymes of a particular enzyme catalyze the same reaction but they differ in some of their properties. [NIH] Kb: A measure of the length of DNA fragments, 1 Kb = 1000 base pairs. The largest DNA fragments are up to 50 kilobases long. [NIH] Keratoconus: A disorder characterized by an irregular corneal surface (cone-shaped) resulting in blurred and distorted images. [NIH] Kinetics: The study of rate dynamics in chemical or physical systems. [NIH] Labile: 1. Gliding; moving from point to point over the surface; unstable; fluctuating. 2. Chemically unstable. [EU] Latent: Phoria which occurs at one distance or another and which usually has no troublesome effect. [NIH] Latent period: A seemingly inactive period, as that between exposure of tissue to an injurious agent and the manifestation of response, or that between the instant of stimulation and the beginning of response. [EU] Leptin: A 16-kD peptide hormone secreted from white adipocytes and implicated in the regulation of food intake and energy balance. Leptin provides the key afferent signal from fat cells in the feedback system that controls body fat stores. [NIH] Lesion: An area of abnormal tissue change. [NIH] Leuprolide: A potent and long acting analog of naturally occurring gonadotropin-releasing hormone (gonadorelin). Its action is similar to gonadorelin, which regulates the synthesis and release of pituitary gonadotropins. [NIH] Libido: The psychic drive or energy associated with sexual instinct in the broad sense (pleasure and love-object seeking). It may also connote the psychic energy associated with instincts in general that motivate behavior. [NIH] Ligament: A band of fibrous tissue that connects bones or cartilages, serving to support and strengthen joints. [EU] Limbic: Pertaining to a limbus, or margin; forming a border around. [EU]

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Limbic System: A set of forebrain structures common to all mammals that is defined functionally and anatomically. It is implicated in the higher integration of visceral, olfactory, and somatic information as well as homeostatic responses including fundamental survival behaviors (feeding, mating, emotion). For most authors, it includes the amygdala, epithalamus, gyrus cinguli, hippocampal formation (see hippocampus), hypothalamus, parahippocampal gyrus, septal nuclei, anterior nuclear group of thalamus, and portions of the basal ganglia. (Parent, Carpenter's Human Neuroanatomy, 9th ed, p744; NeuroNames, http://rprcsgi.rprc.washington.edu/neuronames/index.html (September 2, 1998)). [NIH] Lipid: Fat. [NIH] Lipoid: The most common nephrotic syndrome disease of childhood. [NIH] Liver: A large, glandular organ located in the upper abdomen. The liver cleanses the blood and aids in digestion by secreting bile. [NIH] Localization: The process of determining or marking the location or site of a lesion or disease. May also refer to the process of keeping a lesion or disease in a specific location or site. [NIH] Localized: Cancer which has not metastasized yet. [NIH] Lubricants: Oily or slippery substances. [NIH] Lubrication: The application of a substance to diminish friction between two surfaces. It may refer to oils, greases, and similar substances for the lubrication of medical equipment but it can be used for the application of substances to tissue to reduce friction, such as lotions for skin and vaginal lubricants. [NIH] Lymphocytes: White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B (with subpopulations of each); those with characteristics of neither major class are called null cells. [NIH] Lymphoid: Referring to lymphocytes, a type of white blood cell. Also refers to tissue in which lymphocytes develop. [NIH] Malignant: Cancerous; a growth with a tendency to invade and destroy nearby tissue and spread to other parts of the body. [NIH] Malnutrition: A condition caused by not eating enough food or not eating a balanced diet. [NIH]

Manifest: Being the part or aspect of a phenomenon that is directly observable : concretely expressed in behaviour. [EU] Mass Screening: Organized periodic procedures performed on large groups of people for the purpose of detecting disease. [NIH] Medical Informatics: The field of information science concerned with the analysis and dissemination of medical data through the application of computers to various aspects of health care and medicine. [NIH] MEDLINE: An online database of MEDLARS, the computerized bibliographic Medical Literature Analysis and Retrieval System of the National Library of Medicine. [NIH] Meiosis: A special method of cell division, occurring in maturation of the germ cells, by means of which each daughter nucleus receives half the number of chromosomes characteristic of the somatic cells of the species. [NIH] Melanocytes: Epidermal dendritic pigment cells which control long-term morphological color changes by alteration in their number or in the amount of pigment they produce and

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store in the pigment containing organelles called melanosomes. Melanophores are larger cells which do not exist in mammals. [NIH] Membrane: A very thin layer of tissue that covers a surface. [NIH] Memory: Complex mental function having four distinct phases: (1) memorizing or learning, (2) retention, (3) recall, and (4) recognition. Clinically, it is usually subdivided into immediate, recent, and remote memory. [NIH] Menarche: The establishment or beginning of the menstrual function. [EU] Menopause: Permanent cessation of menstruation. [NIH] Menstrual Cycle: The period of the regularly recurring physiologic changes in the endometrium occurring during the reproductive period in human females and some primates and culminating in partial sloughing of the endometrium (menstruation). [NIH] Menstruation: The normal physiologic discharge through the vagina of blood and mucosal tissues from the nonpregnant uterus. [NIH] Mental: Pertaining to the mind; psychic. 2. (L. mentum chin) pertaining to the chin. [EU] Mental Health: The state wherein the person is well adjusted. [NIH] Mesenteric: Pertaining to the mesentery : a membranous fold attaching various organs to the body wall. [EU] Meta-Analysis: A quantitative method of combining the results of independent studies (usually drawn from the published literature) and synthesizing summaries and conclusions which may be used to evaluate therapeutic effectiveness, plan new studies, etc., with application chiefly in the areas of research and medicine. [NIH] Metabolite: Any substance produced by metabolism or by a metabolic process. [EU] Metastasis: The spread of cancer from one part of the body to another. Tumors formed from cells that have spread are called "secondary tumors" and contain cells that are like those in the original (primary) tumor. The plural is metastases. [NIH] Microorganism: An organism that can be seen only through a microscope. Microorganisms include bacteria, protozoa, algae, and fungi. Although viruses are not considered living organisms, they are sometimes classified as microorganisms. [NIH] Microscopy: The application of microscope magnification to the study of materials that cannot be properly seen by the unaided eye. [NIH] Mineralocorticoid: 1. Any of the group of C21 corticosteroids, principally aldosterone, predominantly involved in the regulation of electrolyte and water balance through their effect on ion transport in epithelial cells of the renal tubules, resulting in retention of sodium and loss of potassium; some also possess varying degrees of glucocorticoid activity. Their secretion is regulated principally by plasma volume, serum potassium concentration and angiotensin II, and to a lesser extent by anterior pituitary ACTH. 2. Of, pertaining to, having the properties of, or resembling a mineralocorticoid. [EU] Mitochondria: Parts of a cell where aerobic production (also known as cell respiration) takes place. [NIH] Modification: A change in an organism, or in a process in an organism, that is acquired from its own activity or environment. [NIH] Molecular: Of, pertaining to, or composed of molecules : a very small mass of matter. [EU] Molecule: A chemical made up of two or more atoms. The atoms in a molecule can be the same (an oxygen molecule has two oxygen atoms) or different (a water molecule has two hydrogen atoms and one oxygen atom). Biological molecules, such as proteins and DNA, can be made up of many thousands of atoms. [NIH]

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Monogenic: A human disease caused by a mutation in a single gene. [NIH] Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1. [NIH] Morphology: The science of the form and structure of organisms (plants, animals, and other forms of life). [NIH] Mosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single zygote, as opposed to chimerism in which the different cell populations are derived from more than one zygote. [NIH] Mucins: A secretion containing mucopolysaccharides and protein that is the chief constituent of mucus. [NIH] Multicenter study: A clinical trial that is carried out at more than one medical institution. [NIH]

Neonatal: Pertaining to the first four weeks after birth. [EU] Neonatal period: The first 4 weeks after birth. [NIH] Neonatal Screening: The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic. [NIH] Neoplasm: A new growth of benign or malignant tissue. [NIH] Nephropathy: Disease of the kidneys. [EU] Nephrotic: Pertaining to, resembling, or caused by nephrosis. [EU] Nephrotic Syndrome: Clinical association of heavy proteinuria, hypoalbuminemia, and generalized edema. [NIH] Networks: Pertaining to a nerve or to the nerves, a meshlike structure of interlocking fibers or strands. [NIH] Neurogenic: Loss of bladder control caused by damage to the nerves controlling the bladder. [NIH] Neuronal: Pertaining to a neuron or neurons (= conducting cells of the nervous system). [EU] Neurons: The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. [NIH] Neurotransmitter: Any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. Among the many substances that have the properties of a neurotransmitter are acetylcholine, norepinephrine, epinephrine, dopamine, glycine, y-aminobutyrate, glutamic acid, substance P, enkephalins, endorphins, and serotonin. [EU] Nevus: A benign growth on the skin, such as a mole. A mole is a cluster of melanocytes and surrounding supportive tissue that usually appears as a tan, brown, or flesh-colored spot on the skin. The plural of nevus is nevi (NEE-vye). [NIH] Nitric Oxide: A free radical gas produced endogenously by a variety of mammalian cells. It is synthesized from arginine by a complex reaction, catalyzed by nitric oxide synthase. Nitric oxide is endothelium-derived relaxing factor. It is released by the vascular endothelium and mediates the relaxation induced by some vasodilators such as acetylcholine and bradykinin. It also inhibits platelet aggregation, induces disaggregation of

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aggregated platelets, and inhibits platelet adhesion to the vascular endothelium. Nitric oxide activates cytosolic guanylate cyclase and thus elevates intracellular levels of cyclic GMP. [NIH]

Nitrogen: An element with the atomic symbol N, atomic number 7, and atomic weight 14. Nitrogen exists as a diatomic gas and makes up about 78% of the earth's atmosphere by volume. It is a constituent of proteins and nucleic acids and found in all living cells. [NIH] Norepinephrine: Precursor of epinephrine that is secreted by the adrenal medulla and is a widespread central and autonomic neurotransmitter. Norepinephrine is the principal transmitter of most postganglionic sympathetic fibers and of the diffuse projection system in the brain arising from the locus ceruleus. It is also found in plants and is used pharmacologically as a sympathomimetic. [NIH] Nuclei: A body of specialized protoplasm found in nearly all cells and containing the chromosomes. [NIH] Nucleic acid: Either of two types of macromolecule (DNA or RNA) formed by polymerization of nucleotides. Nucleic acids are found in all living cells and contain the information (genetic code) for the transfer of genetic information from one generation to the next. [NIH] Nucleic Acid Hybridization: The process whereby two single-stranded polynucleotides form a double-stranded molecule, with hydrogen bonding between the complementary bases in the two strains. [NIH] Nucleus: A body of specialized protoplasm found in nearly all cells and containing the chromosomes. [NIH] Oligomenorrhea: Abnormally infrequent menstruation. [NIH] Oligosaccharides: Carbohydrates consisting of between two and ten monosaccharides connected by either an alpha- or beta-glycosidic link. They are found throughout nature in both the free and bound form. [NIH] Oophorectomy: Surgery to remove one or both ovaries. [NIH] Operon: The genetic unit consisting of a feedback system under the control of an operator gene, in which a structural gene transcribes its message in the form of mRNA upon blockade of a repressor produced by a regulator gene. Included here is the attenuator site of bacterial operons where transcription termination is regulated. [NIH] Optic Nerve: The 2nd cranial nerve. The optic nerve conveys visual information from the retina to the brain. The nerve carries the axons of the retinal ganglion cells which sort at the optic chiasm and continue via the optic tracts to the brain. The largest projection is to the lateral geniculate nuclei; other important targets include the superior colliculi and the suprachiasmatic nuclei. Though known as the second cranial nerve, it is considered part of the central nervous system. [NIH] Orgasm: The crisis of sexual excitement in either humans or animals. [NIH] Ovarian Follicle: Spheroidal cell aggregation in the ovary containing an ovum. It consists of an external fibro-vascular coat, an internal coat of nucleated cells, and a transparent, albuminous fluid in which the ovum is suspended. [NIH] Ovaries: The pair of female reproductive glands in which the ova, or eggs, are formed. The ovaries are located in the pelvis, one on each side of the uterus. [NIH] Ovary: Either of the paired glands in the female that produce the female germ cells and secrete some of the female sex hormones. [NIH] Ovum: A female germ cell extruded from the ovary at ovulation. [NIH]

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Oxidation: The act of oxidizing or state of being oxidized. Chemically it consists in the increase of positive charges on an atom or the loss of negative charges. Most biological oxidations are accomplished by the removal of a pair of hydrogen atoms (dehydrogenation) from a molecule. Such oxidations must be accompanied by reduction of an acceptor molecule. Univalent o. indicates loss of one electron; divalent o., the loss of two electrons. [EU]

Pancreas: A mixed exocrine and endocrine gland situated transversely across the posterior abdominal wall in the epigastric and hypochondriac regions. The endocrine portion is comprised of the Islets of Langerhans, while the exocrine portion is a compound acinar gland that secretes digestive enzymes. [NIH] Particle: A tiny mass of material. [EU] Pathologic: 1. Indicative of or caused by a morbid condition. 2. Pertaining to pathology (= branch of medicine that treats the essential nature of the disease, especially the structural and functional changes in tissues and organs of the body caused by the disease). [EU] Pathologies: The study of abnormality, especially the study of diseases. [NIH] Pathophysiology: Altered functions in an individual or an organ due to disease. [NIH] Patient Education: The teaching or training of patients concerning their own health needs. [NIH]

Pediatric Endocrinologist: A doctor who sees and treats children with problems of the endocrine glands; diabetes is an endocrine disorder. [NIH] Pelvic: Pertaining to the pelvis. [EU] Pelvis: The lower part of the abdomen, located between the hip bones. [NIH] Peptide: Any compound consisting of two or more amino acids, the building blocks of proteins. Peptides are combined to make proteins. [NIH] Perinatal: Pertaining to or occurring in the period shortly before and after birth; variously defined as beginning with completion of the twentieth to twenty-eighth week of gestation and ending 7 to 28 days after birth. [EU] Pharmacologic: Pertaining to pharmacology or to the properties and reactions of drugs. [EU] Phenotype: The outward appearance of the individual. It is the product of interactions between genes and between the genotype and the environment. This includes the killer phenotype, characteristic of yeasts. [NIH] Phospholipases: A class of enzymes that catalyze the hydrolysis of phosphoglycerides or glycerophosphatidates. EC 3.1.-. [NIH] Phospholipids: Lipids containing one or more phosphate groups, particularly those derived from either glycerol (phosphoglycerides; glycerophospholipids) or sphingosine (sphingolipids). They are polar lipids that are of great importance for the structure and function of cell membranes and are the most abundant of membrane lipids, although not stored in large amounts in the system. [NIH] Phosphorus: A non-metallic element that is found in the blood, muscles, nevers, bones, and teeth, and is a component of adenosine triphosphate (ATP; the primary energy source for the body's cells.) [NIH] Physical Examination: Systematic and thorough inspection of the patient for physical signs of disease or abnormality. [NIH] Physiologic: Having to do with the functions of the body. When used in the phrase "physiologic age," it refers to an age assigned by general health, as opposed to calendar age. [NIH]

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Physiology: The science that deals with the life processes and functions of organismus, their cells, tissues, and organs. [NIH] Pilot study: The initial study examining a new method or treatment. [NIH] Pituitary Gland: A small, unpaired gland situated in the sella turcica tissue. It is connected to the hypothalamus by a short stalk. [NIH] Placenta: A highly vascular fetal organ through which the fetus absorbs oxygen and other nutrients and excretes carbon dioxide and other wastes. It begins to form about the eighth day of gestation when the blastocyst adheres to the decidua. [NIH] Plants: Multicellular, eukaryotic life forms of the kingdom Plantae. They are characterized by a mainly photosynthetic mode of nutrition; essentially unlimited growth at localized regions of cell divisions (meristems); cellulose within cells providing rigidity; the absence of organs of locomotion; absense of nervous and sensory systems; and an alteration of haploid and diploid generations. [NIH] Plasma: The clear, yellowish, fluid part of the blood that carries the blood cells. The proteins that form blood clots are in plasma. [NIH] Plasma cells: A type of white blood cell that produces antibodies. [NIH] Plasma Volume: Volume of plasma in the circulation. It is usually measured by indicator dilution techniques. [NIH] Plasmid: An autonomously replicating, extra-chromosomal DNA molecule found in many bacteria. Plasmids are widely used as carriers of cloned genes. [NIH] Platelet Activation: A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug. [NIH] Platelet Aggregation: The attachment of platelets to one another. This clumping together can be induced by a number of agents (e.g., thrombin, collagen) and is part of the mechanism leading to the formation of a thrombus. [NIH] Platelets: A type of blood cell that helps prevent bleeding by causing blood clots to form. Also called thrombocytes. [NIH] Pneumonia: Inflammation of the lungs. [NIH] Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [NIH] Polycystic: An inherited disorder characterized by many grape-like clusters of fluid-filled cysts that make both kidneys larger over time. These cysts take over and destroy working kidney tissue. PKD may cause chronic renal failure and end-stage renal disease. [NIH] Polycystic Ovary Syndrome: Clinical symptom complex characterized by oligomenorrhea or amenorrhea, anovulation, and regularly associated with bilateral polycystic ovaries. [NIH] Polymerase: An enzyme which catalyses the synthesis of DNA using a single DNA strand as a template. The polymerase copies the template in the 5'-3'direction provided that sufficient quantities of free nucleotides, dATP and dTTP are present. [NIH] Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for

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the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. [NIH] Polymorphism: The occurrence together of two or more distinct forms in the same population. [NIH] Polypeptide: A peptide which on hydrolysis yields more than two amino acids; called tripeptides, tetrapeptides, etc. according to the number of amino acids contained. [EU] Polysaccharide: A type of carbohydrate. It contains sugar molecules that are linked together chemically. [NIH] Portal Vein: A short thick vein formed by union of the superior mesenteric vein and the splenic vein. [NIH] Posterior: Situated in back of, or in the back part of, or affecting the back or dorsal surface of the body. In lower animals, it refers to the caudal end of the body. [EU] Postnatal: Occurring after birth, with reference to the newborn. [EU] Postsynaptic: Nerve potential generated by an inhibitory hyperpolarizing stimulation. [NIH] Post-translational: The cleavage of signal sequence that directs the passage of the protein through a cell or organelle membrane. [NIH] Potassium: An element that is in the alkali group of metals. It has an atomic symbol K, atomic number 19, and atomic weight 39.10. It is the chief cation in the intracellular fluid of muscle and other cells. Potassium ion is a strong electrolyte and it plays a significant role in the regulation of fluid volume and maintenance of the water-electrolyte balance. [NIH] Potentiation: An overall effect of two drugs taken together which is greater than the sum of the effects of each drug taken alone. [NIH] Practice Guidelines: Directions or principles presenting current or future rules of policy for the health care practitioner to assist him in patient care decisions regarding diagnosis, therapy, or related clinical circumstances. The guidelines may be developed by government agencies at any level, institutions, professional societies, governing boards, or by the convening of expert panels. The guidelines form a basis for the evaluation of all aspects of health care and delivery. [NIH] Precipitating Factors: Factors associated with the definitive onset of a disease, illness, accident, behavioral response, or course of action. Usually one factor is more important or more obviously recognizable than others, if several are involved, and one may often be regarded as "necessary". Examples include exposure to specific disease; amount or level of an infectious organism, drug, or noxious agent, etc. [NIH] Preclinical: Before a disease becomes clinically recognizable. [EU] Precursor: Something that precedes. In biological processes, a substance from which another, usually more active or mature substance is formed. In clinical medicine, a sign or symptom that heralds another. [EU] Pregnancy Complications: The co-occurrence of pregnancy and a disease. The disease may precede or follow conception and it may or may not have a deleterious effect on the pregnant woman or fetus. [NIH] Pregnancy Tests: Tests to determine whether or not an individual is pregnant. [NIH] Pregnenolone: Steroid hormone. [NIH] Prenatal: Existing or occurring before birth, with reference to the fetus. [EU] Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation embryo, fetus, or pregnant female before birth. [NIH]

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Prevalence: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from incidence, which refers to the number of new cases in the population at a given time. [NIH] Probe: An instrument used in exploring cavities, or in the detection and dilatation of strictures, or in demonstrating the potency of channels; an elongated instrument for exploring or sounding body cavities. [NIH] Progesterone: Pregn-4-ene-3,20-dione. The principal progestational hormone of the body, secreted by the corpus luteum, adrenal cortex, and placenta. Its chief function is to prepare the uterus for the reception and development of the fertilized ovum. It acts as an antiovulatory agent when administered on days 5-25 of the menstrual cycle. [NIH] Progression: Increase in the size of a tumor or spread of cancer in the body. [NIH] Progressive: Advancing; going forward; going from bad to worse; increasing in scope or severity. [EU] Proline: A non-essential amino acid that is synthesized from glutamic acid. It is an essential component of collagen and is important for proper functioning of joints and tendons. [NIH] Prophase: The first phase of cell division, in which the chromosomes become visible, the nucleus starts to lose its identity, the spindle appears, and the centrioles migrate toward opposite poles. [NIH] Prostate: A gland in males that surrounds the neck of the bladder and the urethra. It secretes a substance that liquifies coagulated semen. It is situated in the pelvic cavity behind the lower part of the pubic symphysis, above the deep layer of the triangular ligament, and rests upon the rectum. [NIH] Protein C: A vitamin-K dependent zymogen present in the blood, which, upon activation by thrombin and thrombomodulin exerts anticoagulant properties by inactivating factors Va and VIIIa at the rate-limiting steps of thrombin formation. [NIH] Protein S: The vitamin K-dependent cofactor of activated protein C. Together with protein C, it inhibits the action of factors VIIIa and Va. A deficiency in protein S can lead to recurrent venous and arterial thrombosis. [NIH] Proteins: Polymers of amino acids linked by peptide bonds. The specific sequence of amino acids determines the shape and function of the protein. [NIH] Proteolytic: 1. Pertaining to, characterized by, or promoting proteolysis. 2. An enzyme that promotes proteolysis (= the splitting of proteins by hydrolysis of the peptide bonds with formation of smaller polypeptides). [EU] Protocol: The detailed plan for a clinical trial that states the trial's rationale, purpose, drug or vaccine dosages, length of study, routes of administration, who may participate, and other aspects of trial design. [NIH] Proximal: Nearest; closer to any point of reference; opposed to distal. [EU] Psychic: Pertaining to the psyche or to the mind; mental. [EU] Psychosexual: Pertaining to the mental aspects of sex. [NIH] Psychosexual Development: The stages of development of the psychological aspects of sexuality from birth to adulthood; i.e., oral, anal, genital, and latent periods. [NIH] Puberty: The period during which the secondary sex characteristics begin to develop and the capability of sexual reproduction is attained. [EU] Public Policy: A course or method of action selected, usually by a government, from among alternatives to guide and determine present and future decisions. [NIH] Publishing: "The business or profession of the commercial production and issuance of

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literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing. [NIH]

Pulmonary: Relating to the lungs. [NIH] Pulmonary hypertension: Abnormally high blood pressure in the arteries of the lungs. [NIH] Quality of Life: A generic concept reflecting concern with the modification and enhancement of life attributes, e.g., physical, political, moral and social environment. [NIH] Radiation: Emission or propagation of electromagnetic energy (waves/rays), or the waves/rays themselves; a stream of electromagnetic particles (electrons, neutrons, protons, alpha particles) or a mixture of these. The most common source is the sun. [NIH] Radioactive: Giving off radiation. [NIH] Radiography: Examination of any part of the body for diagnostic purposes by means of roentgen rays, recording the image on a sensitized surface (such as photographic film). [NIH] Radioimmunoassay: Classic quantitative assay for detection of antigen-antibody reactions using a radioactively labeled substance (radioligand) either directly or indirectly to measure the binding of the unlabeled substance to a specific antibody or other receptor system. Nonimmunogenic substances (e.g., haptens) can be measured if coupled to larger carrier proteins (e.g., bovine gamma-globulin or human serum albumin) capable of inducing antibody formation. [NIH] Randomized: Describes an experiment or clinical trial in which animal or human subjects are assigned by chance to separate groups that compare different treatments. [NIH] Receptor: A molecule inside or on the surface of a cell that binds to a specific substance and causes a specific physiologic effect in the cell. [NIH] Recombinant: A cell or an individual with a new combination of genes not found together in either parent; usually applied to linked genes. [EU] Recombination: The formation of new combinations of genes as a result of segregation in crosses between genetically different parents; also the rearrangement of linked genes due to crossing-over. [NIH] Rectum: The last 8 to 10 inches of the large intestine. [NIH] Reductase: Enzyme converting testosterone to dihydrotestosterone. [NIH] Refer: To send or direct for treatment, aid, information, de decision. [NIH] Reflux: The term used when liquid backs up into the esophagus from the stomach. [NIH] Refraction: A test to determine the best eyeglasses or contact lenses to correct a refractive error (myopia, hyperopia, or astigmatism). [NIH] Regimen: A treatment plan that specifies the dosage, the schedule, and the duration of treatment. [NIH] Reliability: Used technically, in a statistical sense, of consistency of a test with itself, i. e. the extent to which we can assume that it will yield the same result if repeated a second time. [NIH]

Renal tubular: A defect in the kidneys that hinders their normal excretion of acids. Failure to excrete acids can lead to weak bones, kidney stones, and poor growth in children. [NIH] Renal tubular acidosis: A rare disorder in which structures in the kidney that filter the blood are impaired, producing using that is more acid than normal. [NIH] Renin: An enzyme which is secreted by the kidney and is formed from prorenin in plasma and kidney. The enzyme cleaves the Leu-Leu bond in angiotensinogen to generate

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angiotensin I. EC 3.4.23.15. (Formerly EC 3.4.99.19). [NIH] Repressor: Any of the specific allosteric protein molecules, products of regulator genes, which bind to the operator of operons and prevent RNA polymerase from proceeding into the operon to transcribe messenger RNA. [NIH] Resorption: The loss of substance through physiologic or pathologic means, such as loss of dentin and cementum of a tooth, or of the alveolar process of the mandible or maxilla. [EU] Retina: The ten-layered nervous tissue membrane of the eye. It is continuous with the optic nerve and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the choroid and the inner surface with the vitreous body. The outer-most layer is pigmented, whereas the inner nine layers are transparent. [NIH] Retroperitoneal: Having to do with the area outside or behind the peritoneum (the tissue that lines the abdominal wall and covers most of the organs in the abdomen). [NIH] Reversion: A return to the original condition, e. g. the reappearance of the normal or wild type in previously mutated cells, tissues, or organisms. [NIH] Risk factor: A habit, trait, condition, or genetic alteration that increases a person's chance of developing a disease. [NIH] Saliva: The clear, viscous fluid secreted by the salivary glands and mucous glands of the mouth. It contains mucins, water, organic salts, and ptylin. [NIH] Salivary: The duct that convey saliva to the mouth. [NIH] Salivary glands: Glands in the mouth that produce saliva. [NIH] Saponins: Sapogenin glycosides. A type of glycoside widely distributed in plants. Each consists of a sapogenin as the aglycon moiety, and a sugar. The sapogenin may be a steroid or a triterpene and the sugar may be glucose, galactose, a pentose, or a methylpentose. Sapogenins are poisonous towards the lower forms of life and are powerful hemolytics when injected into the blood stream able to dissolve red blood cells at even extreme dilutions. [NIH] Screening: Checking for disease when there are no symptoms. [NIH] Sebaceous: Gland that secretes sebum. [NIH] Sebaceous gland: Gland that secretes sebum. [NIH] Secretion: 1. The process of elaborating a specific product as a result of the activity of a gland; this activity may range from separating a specific substance of the blood to the elaboration of a new chemical substance. 2. Any substance produced by secretion. [EU] Segregation: The separation in meiotic cell division of homologous chromosome pairs and their contained allelomorphic gene pairs. [NIH] Semen: The thick, yellowish-white, viscid fluid secretion of male reproductive organs discharged upon ejaculation. In addition to reproductive organ secretions, it contains spermatozoa and their nutrient plasma. [NIH] Sensor: A device designed to respond to physical stimuli such as temperature, light, magnetism or movement and transmit resulting impulses for interpretation, recording, movement, or operating control. [NIH] Septal: An abscess occurring at the root of the tooth on the proximal surface. [NIH] Sequencing: The determination of the order of nucleotides in a DNA or RNA chain. [NIH] Serum: The clear liquid part of the blood that remains after blood cells and clotting proteins have been removed. [NIH] Serum Albumin: A major plasma protein that serves in maintaining the plasma colloidal

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osmotic pressure and transporting large organic anions. [NIH] Sex Characteristics: Those characteristics that distinguish one sex from the other. The primary sex characteristics are the ovaries and testes and their related hormones. Secondary sex characteristics are those which are masculine or feminine but not directly related to reproduction. [NIH] Sex Determination: The biological characteristics which distinguish human beings as female or male. [NIH] Shock: The general bodily disturbance following a severe injury; an emotional or moral upset occasioned by some disturbing or unexpected experience; disruption of the circulation, which can upset all body functions: sometimes referred to as circulatory shock. [NIH]

Shunt: A surgically created diversion of fluid (e.g., blood or cerebrospinal fluid) from one area of the body to another area of the body. [NIH] Side effect: A consequence other than the one(s) for which an agent or measure is used, as the adverse effects produced by a drug, especially on a tissue or organ system other than the one sought to be benefited by its administration. [EU] Signal Transduction: The intercellular or intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GABA-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptormediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway. [NIH] Skeletal: Having to do with the skeleton (boney part of the body). [NIH] Skeleton: The framework that supports the soft tissues of vertebrate animals and protects many of their internal organs. The skeletons of vertebrates are made of bone and/or cartilage. [NIH] Skull: The skeleton of the head including the bones of the face and the bones enclosing the brain. [NIH] Small intestine: The part of the digestive tract that is located between the stomach and the large intestine. [NIH] Smooth muscle: Muscle that performs automatic tasks, such as constricting blood vessels. [NIH]

Social Environment: The aggregate of social and cultural institutions, forms, patterns, and processes that influence the life of an individual or community. [NIH] Sodium: An element that is a member of the alkali group of metals. It has the atomic symbol Na, atomic number 11, and atomic weight 23. With a valence of 1, it has a strong affinity for oxygen and other nonmetallic elements. Sodium provides the chief cation of the extracellular body fluids. Its salts are the most widely used in medicine. (From Dorland, 27th ed) Physiologically the sodium ion plays a major role in blood pressure regulation, maintenance of fluid volume, and electrolyte balance. [NIH] Solvent: 1. Dissolving; effecting a solution. 2. A liquid that dissolves or that is capable of

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dissolving; the component of a solution that is present in greater amount. [EU] Soma: The body as distinct from the mind; all the body tissue except the germ cells; all the axial body. [NIH] Somatic: 1. Pertaining to or characteristic of the soma or body. 2. Pertaining to the body wall in contrast to the viscera. [EU] Specialist: In medicine, one who concentrates on 1 special branch of medical science. [NIH] Species: A taxonomic category subordinate to a genus (or subgenus) and superior to a subspecies or variety, composed of individuals possessing common characters distinguishing them from other categories of individuals of the same taxonomic level. In taxonomic nomenclature, species are designated by the genus name followed by a Latin or Latinized adjective or noun. [EU] Specificity: Degree of selectivity shown by an antibody with respect to the number and types of antigens with which the antibody combines, as well as with respect to the rates and the extents of these reactions. [NIH] Spectrum: A charted band of wavelengths of electromagnetic vibrations obtained by refraction and diffraction. By extension, a measurable range of activity, such as the range of bacteria affected by an antibiotic (antibacterial s.) or the complete range of manifestations of a disease. [EU] Sperm: The fecundating fluid of the male. [NIH] Spermatogenesis: Process of formation and development of spermatozoa, including spermatocytogenesis and spermiogenesis. [NIH] Spermatozoa: Mature male germ cells that develop in the seminiferous tubules of the testes. Each consists of a head, a body, and a tail that provides propulsion. The head consists mainly of chromatin. [NIH] Spinal cord: The main trunk or bundle of nerves running down the spine through holes in the spinal bone (the vertebrae) from the brain to the level of the lower back. [NIH] Splenic Vein: Vein formed by the union (at the hilus of the spleen) of several small veins from the stomach, pancreas, spleen and mesentery. [NIH] Sterility: 1. The inability to produce offspring, i.e., the inability to conceive (female s.) or to induce conception (male s.). 2. The state of being aseptic, or free from microorganisms. [EU] Steroid: A group name for lipids that contain a hydrogenated cyclopentanoperhydrophenanthrene ring system. Some of the substances included in this group are progesterone, adrenocortical hormones, the gonadal hormones, cardiac aglycones, bile acids, sterols (such as cholesterol), toad poisons, saponins, and some of the carcinogenic hydrocarbons. [EU] Stimulus: That which can elicit or evoke action (response) in a muscle, nerve, gland or other excitable issue, or cause an augmenting action upon any function or metabolic process. [NIH] Stomach: An organ of digestion situated in the left upper quadrant of the abdomen between the termination of the esophagus and the beginning of the duodenum. [NIH] Strand: DNA normally exists in the bacterial nucleus in a helix, in which two strands are coiled together. [NIH] Stress: Forcibly exerted influence; pressure. Any condition or situation that causes strain or tension. Stress may be either physical or psychologic, or both. [NIH] Substance P: An eleven-amino acid neurotransmitter that appears in both the central and peripheral nervous systems. It is involved in transmission of pain, causes rapid contractions of the gastrointestinal smooth muscle, and modulates inflammatory and immune responses.

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[NIH]

Support group: A group of people with similar disease who meet to discuss how better to cope with their cancer and treatment. [NIH] Suppression: A conscious exclusion of disapproved desire contrary with repression, in which the process of exclusion is not conscious. [NIH] Sympathomimetic: 1. Mimicking the effects of impulses conveyed by adrenergic postganglionic fibres of the sympathetic nervous system. 2. An agent that produces effects similar to those of impulses conveyed by adrenergic postganglionic fibres of the sympathetic nervous system. Called also adrenergic. [EU] Symphysis: A secondary cartilaginous joint. [NIH] Synapse: The region where the processes of two neurons come into close contiguity, and the nervous impulse passes from one to the other; the fibers of the two are intermeshed, but, according to the general view, there is no direct contiguity. [NIH] Synapsis: The pairing between homologous chromosomes of maternal and paternal origin during the prophase of meiosis, leading to the formation of gametes. [NIH] Synaptic: Pertaining to or affecting a synapse (= site of functional apposition between neurons, at which an impulse is transmitted from one neuron to another by electrical or chemical means); pertaining to synapsis (= pairing off in point-for-point association of homologous chromosomes from the male and female pronuclei during the early prophase of meiosis). [EU] Systemic: Affecting the entire body. [NIH] Systolic: Indicating the maximum arterial pressure during contraction of the left ventricle of the heart. [EU] Tachycardia: Excessive rapidity in the action of the heart, usually with a heart rate above 100 beats per minute. [NIH] Temporal: One of the two irregular bones forming part of the lateral surfaces and base of the skull, and containing the organs of hearing. [NIH] Temporal Lobe: Lower lateral part of the cerebral hemisphere. [NIH] Terminator: A DNA sequence sited at the end of a transcriptional unit that signals the end of transcription. [NIH] Testicular: Pertaining to a testis. [EU] Testis: Either of the paired male reproductive glands that produce the male germ cells and the male hormones. [NIH] Testolactone: An antineoplastic agent that is a derivative of progesterone and used to treat advanced breast cancer. [NIH] Testosterone: A hormone that promotes the development and maintenance of male sex characteristics. [NIH] Thermal: Pertaining to or characterized by heat. [EU] Threshold: For a specified sensory modality (e. g. light, sound, vibration), the lowest level (absolute threshold) or smallest difference (difference threshold, difference limen) or intensity of the stimulus discernible in prescribed conditions of stimulation. [NIH] Thyroid: A gland located near the windpipe (trachea) that produces thyroid hormone, which helps regulate growth and metabolism. [NIH] Thyroid Gland: A highly vascular endocrine gland consisting of two lobes, one on either side of the trachea, joined by a narrow isthmus; it produces the thyroid hormones which are

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concerned in regulating the metabolic rate of the body. [NIH] Tissue: A group or layer of cells that are alike in type and work together to perform a specific function. [NIH] Tolerance: 1. The ability to endure unusually large doses of a drug or toxin. 2. Acquired drug tolerance; a decreasing response to repeated constant doses of a drug or the need for increasing doses to maintain a constant response. [EU] Tone: 1. The normal degree of vigour and tension; in muscle, the resistance to passive elongation or stretch; tonus. 2. A particular quality of sound or of voice. 3. To make permanent, or to change, the colour of silver stain by chemical treatment, usually with a heavy metal. [EU] Tonus: A state of slight tension usually present in muscles even when they are not undergoing active contraction. [NIH] Topical: On the surface of the body. [NIH] Toxic: Having to do with poison or something harmful to the body. Toxic substances usually cause unwanted side effects. [NIH] Toxicity: The quality of being poisonous, especially the degree of virulence of a toxic microbe or of a poison. [EU] Toxicology: The science concerned with the detection, chemical composition, and pharmacologic action of toxic substances or poisons and the treatment and prevention of toxic manifestations. [NIH] Toxin: A poison; frequently used to refer specifically to a protein produced by some higher plants, certain animals, and pathogenic bacteria, which is highly toxic for other living organisms. Such substances are differentiated from the simple chemical poisons and the vegetable alkaloids by their high molecular weight and antigenicity. [EU] Trachea: The cartilaginous and membranous tube descending from the larynx and branching into the right and left main bronchi. [NIH] Transduction: The transfer of genes from one cell to another by means of a viral (in the case of bacteria, a bacteriophage) vector or a vector which is similar to a virus particle (pseudovirion). [NIH] Transfection: The uptake of naked or purified DNA into cells, usually eukaryotic. It is analogous to bacterial transformation. [NIH] Translational: The cleavage of signal sequence that directs the passage of the protein through a cell or organelle membrane. [NIH] Translocation: The movement of material in solution inside the body of the plant. [NIH] Tricuspid Atresia: Absence of the orifice between the right atrium and ventricle, with the presence of an atrial defect through which all the systemic venous return reaches the left heart. As a result, there is left ventricular hypertrophy because the right ventricle is absent or not functional. [NIH] Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell. [NIH]

Trophic: Of or pertaining to nutrition. [EU] Tryptophan: An essential amino acid that is necessary for normal growth in infants and for nitrogen balance in adults. It is a precursor serotonin and niacin. [NIH] Tumour: 1. Swelling, one of the cardinal signs of inflammations; morbid enlargement. 2. A new growth of tissue in which the multiplication of cells is uncontrolled and progressive; called also neoplasm. [EU]

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Ultrasonography: The visualization of deep structures of the body by recording the reflections of echoes of pulses of ultrasonic waves directed into the tissues. Use of ultrasound for imaging or diagnostic purposes employs frequencies ranging from 1.6 to 10 megahertz. [NIH] Ureters: Tubes that carry urine from the kidneys to the bladder. [NIH] Urethra: The tube through which urine leaves the body. It empties urine from the bladder. [NIH]

Urine: Fluid containing water and waste products. Urine is made by the kidneys, stored in the bladder, and leaves the body through the urethra. [NIH] Uterus: The small, hollow, pear-shaped organ in a woman's pelvis. This is the organ in which a fetus develops. Also called the womb. [NIH] Vaccine: A substance or group of substances meant to cause the immune system to respond to a tumor or to microorganisms, such as bacteria or viruses. [NIH] Vagina: The muscular canal extending from the uterus to the exterior of the body. Also called the birth canal. [NIH] Vaginal: Of or having to do with the vagina, the birth canal. [NIH] Vascular: Pertaining to blood vessels or indicative of a copious blood supply. [EU] Vasoactive: Exerting an effect upon the calibre of blood vessels. [EU] Vasoconstriction: Narrowing of the blood vessels without anatomic change, for which constriction, pathologic is used. [NIH] Vasodilators: Any nerve or agent which induces dilatation of the blood vessels. [NIH] Vector: Plasmid or other self-replicating DNA molecule that transfers DNA between cells in nature or in recombinant DNA technology. [NIH] Vein: Vessel-carrying blood from various parts of the body to the heart. [NIH] Ventricle: One of the two pumping chambers of the heart. The right ventricle receives oxygen-poor blood from the right atrium and pumps it to the lungs through the pulmonary artery. The left ventricle receives oxygen-rich blood from the left atrium and pumps it to the body through the aorta. [NIH] Ventricular: Pertaining to a ventricle. [EU] Vesicoureteral: An abnormal condition in which urine backs up into the ureters, and occasionally into the kidneys, raising the risk of infection. [NIH] Veterinary Medicine: The medical science concerned with the prevention, diagnosis, and treatment of diseases in animals. [NIH] Villi: The tiny, fingerlike projections on the surface of the small intestine. Villi help absorb nutrients. [NIH] Villus: Cell found in the lining of the small intestine. [NIH] Viral: Pertaining to, caused by, or of the nature of virus. [EU] Virilism: Development of masculine traits in the female. [NIH] Virilization: The induction or development of male secondary sec characters, especially the induction of such changes in the female, including enlargement of the clitoris, growth of facial and body hair, development of a hairline typical of the male forehead, stimulation of secretion and proliferation of the sebaceous glands (often with acne), and deepening of the voice. Called also masculinization) [EU] Virus: Submicroscopic organism that causes infectious disease. In cancer therapy, some

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viruses may be made into vaccines that help the body build an immune response to, and kill, tumor cells. [NIH] Viscera: Any of the large interior organs in any one of the three great cavities of the body, especially in the abdomen. [NIH] Vitreous: Glasslike or hyaline; often used alone to designate the vitreous body of the eye (corpus vitreum). [EU] Vitreous Body: The transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina. It is contained in a thin hyoid membrane and forms about four fifths of the optic globe. [NIH] Vitro: Descriptive of an event or enzyme reaction under experimental investigation occurring outside a living organism. Parts of an organism or microorganism are used together with artificial substrates and/or conditions. [NIH] Vivo: Outside of or removed from the body of a living organism. [NIH] Windpipe: A rigid tube, 10 cm long, extending from the cricoid cartilage to the upper border of the fifth thoracic vertebra. [NIH] Xenograft: The cells of one species transplanted to another species. [NIH] Yeasts: A general term for single-celled rounded fungi that reproduce by budding. Brewers' and bakers' yeasts are Saccharomyces cerevisiae; therapeutic dried yeast is dried yeast. [NIH] Zygote: The fertilized ovum. [NIH]

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INDEX 1 17-Hydroxycorticosteroids, 96, 99 A Aberrant, 14, 99 Abscess, 99, 127 Acetylcholine, 99, 120 Acidosis, 99 Acne, 23, 99, 108, 132 Adenocarcinoma, 32, 99 Adenoma, 7, 99 Adipocytes, 99, 117 Adjustment, 10, 55, 99 Adrenal Cortex, 73, 99, 100, 108, 111, 114, 115, 125 Adrenal Glands, 31, 86, 99 Adrenal insufficiency, 6, 15, 99 Adrenal Medulla, 99, 110, 121 Adrenal Rest Tumor, 38, 99 Adrenergic, 9, 99, 110, 130 Adrenergic Antagonists, 9, 99 Adverse Effect, 4, 15, 100, 128 Aerobic, 100, 119 Afferent, 100, 117 Agenesis, 60, 100 Aldosterone, 15, 26, 51, 58, 64, 65, 73, 96, 100, 119 Algorithms, 100, 103 Alkaline, 99, 100, 104 Alleles, 100, 114 Alopecia, 59, 100 Alternative medicine, 100 Amenorrhea, 100, 123 Amino Acid Sequence, 100, 101, 111, 112 Amino Acids, 100, 101, 106, 112, 122, 124, 125 Amnion, 100 Amniotic Fluid, 8, 9, 51, 100, 112 Amplification, 6, 100 Amygdala, 23, 100, 118 Anaesthesia, 60, 100, 116 Anal, 100, 125 Analog, 23, 37, 100, 117 Anaphylatoxins, 101, 107 Anaplasia, 101 Anatomical, 57, 101, 102, 105, 116 Androgenic, 14, 59, 101 Androgens, 4, 6, 7, 10, 15, 30, 53, 99, 101, 102, 108, 115

Anesthesia, 65, 101 Anesthetics, 101, 111 Aneuploidy, 9, 101 Angiotensinogen, 101, 126 Animal model, 9, 101 Annealing, 101, 123 Anomalies, 10, 101 Anovulation, 101, 123 Antiallergic, 101, 108 Antibacterial, 101, 129 Antibiotic, 101, 129 Antibodies, 15, 101, 114, 123 Antibody, 101, 102, 106, 114, 115, 116, 126, 129 Antigen, 52, 101, 102, 107, 114, 115, 116, 126 Antigen-Antibody Complex, 102, 107 Anti-inflammatory, 102, 108, 109, 113 Anti-Inflammatory Agents, 102, 108 Antineoplastic, 102, 108, 130 Anus, 100, 102, 116 Anxiety, 44, 102 Aqueous, 72, 102, 103 Arginine, 101, 102, 120 Aromatase, 4, 102 Arterial, 102, 107, 115, 125, 130 Assay, 6, 7, 20, 22, 53, 54, 102, 126 Atmospheric Pressure, 19, 102 Atresia, 25, 102 Atrial, 25, 102, 107, 131 Atrioventricular, 102, 107 Atrium, 102, 107, 131, 132 Atrophy, 47, 102 Attenuation, 6, 102 Azoospermia, 34, 102 B Bacteria, 101, 102, 119, 123, 129, 131, 132 Base, 103, 112, 117, 123, 130 Baths, 9, 103 Benign, 25, 84, 99, 103, 120 Bilateral, 21, 24, 33, 36, 44, 57, 103, 123 Bile, 103, 118, 129 Bioavailability, 21, 103 Biochemical, 12, 34, 64, 100, 103 Bioequivalent, 39, 103 Biological Factors, 13, 103 Biological therapy, 103, 113 Biosynthesis, 73, 103

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Biotechnology, 15, 16, 79, 103 Bladder, 103, 107, 120, 125, 132 Blood Coagulation, 103, 104 Blood pressure, 22, 103, 115, 126, 128 Blood vessel, 103, 104, 105, 108, 110, 117, 128, 132 Blot, 54, 103 Body Composition, 22, 33, 104 Body Mass Index, 29, 104 Bradykinin, 104, 120 Broad Ligament, 104, 111 Bronchi, 104, 110, 131 C Calcium, 5, 104, 106, 128 Calcium Channels, 5, 104 Carbenoxolone, 29, 104 Carbohydrate, 104, 108, 113, 124 Carcinogenic, 104, 116, 129 Carcinoma, 7, 61, 104, 108 Cardiac, 104, 108, 111, 129 Cardiomyopathy, 55, 104 Cardiovascular, 104 Carrier Proteins, 104, 126 Case report, 45, 56, 104 Catheterization, 36, 104, 116 Caudal, 105, 115, 124 Causality, 27, 105 Cell Differentiation, 105, 128 Cell Division, 102, 105, 113, 118, 123, 125, 127 Cell membrane, 104, 105, 109, 117, 122 Cell proliferation, 105, 128 Cell Respiration, 105, 119 Cell Survival, 105, 113 Central Nervous System, 99, 104, 105, 110, 121 Cerebral, 105, 111, 130 Cerebrospinal, 105, 128 Cerebrospinal fluid, 105, 128 Chemotactic Factors, 105, 107 Chiasma, 105, 108 Chin, 105, 119 Cholesterol, 6, 13, 103, 105, 129 Choroid, 105, 127 Chromosomal, 20, 100, 101, 106, 120, 123 Chromosome, 10, 36, 43, 73, 101, 106, 112, 114, 120, 127, 131 Chronic, 8, 14, 37, 57, 106, 110, 116, 123 Chronic Disease, 57, 106 Chronic renal, 106, 123 Clear cell carcinoma, 32, 106 Clinical trial, 3, 9, 79, 106, 120, 125, 126

Clitoral, 9, 106 Cloning, 41, 103, 106 Codon, 17, 106, 112 Cognition, 4, 106 Collagen, 4, 106, 114, 123, 125 Collagen disease, 106, 114 Colloidal, 106, 110, 127 Complement, 6, 26, 36, 73, 101, 106, 107, 112 Complementary and alternative medicine, 67, 70, 107 Complementary medicine, 67, 107 Compliance, 20, 107 Computational Biology, 79, 107 Conception, 107, 111, 124, 129 Confounding, 26, 107 Conjugated, 107, 108, 113 Connective Tissue, 106, 107 Contractility, 9, 107 Contraindications, ii, 107 Cor, 52, 107 Corpus, 108, 125, 133 Corpus Luteum, 108, 125 Cortex, 108 Cortical, 12, 108 Corticosteroid, 42, 108 Cortisol, 4, 5, 6, 11, 15, 26, 34, 40, 51, 55, 64, 65, 73, 108 Cortisone, 32, 34, 64, 108, 109 Crossing-over, 58, 108, 126 Cyclic, 108, 113, 121 Cyproterone, 108, 111 Cytochrome, 5, 16, 28, 102, 108 Cytotoxic, 108, 128 D Dehydroepiandrosterone, 61, 109 Deletion, 6, 26, 28, 109 Denaturation, 109, 123 Depolarization, 109, 128 Developmental Biology, 12, 109 Dexamethasone, 4, 23, 27, 30, 39, 46, 48, 54, 109 Diabetes Mellitus, 109, 113 Diagnostic procedure, 48, 71, 109 Diastolic, 109, 115 Digestion, 59, 103, 109, 118, 129 Digestive tract, 104, 109, 128 Dihydrotestosterone, 109, 126 Diploid, 101, 109, 120, 123, 131 Direct, iii, 5, 28, 60, 109, 126, 130 Dissociation, 109, 117 Distal, 40, 109, 125

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Dorsal, 109, 124 Drug Tolerance, 109, 131 Duct, 104, 109, 127 E Effector, 99, 106, 109 Efferent, 5, 110 Efficacy, 60, 110 Elastin, 106, 110 Electrolyte, 34, 96, 100, 108, 110, 119, 124, 128 Electrons, 103, 110, 117, 122, 126 Electrophoresis, 67, 110 Embryo, 100, 105, 110, 116, 124 Endocrine Glands, 110, 122 Endogenous, 12, 99, 110 Endometrium, 32, 110, 119 Endothelium, 110, 120 Endothelium-derived, 110, 120 Endotoxins, 107, 110 End-stage renal, 106, 110, 123 Energy balance, 110, 117 Environmental Health, 65, 78, 80, 110 Enzymatic, 13, 104, 107, 110, 111, 123 Enzyme, 4, 7, 12, 13, 41, 96, 102, 109, 110, 113, 117, 123, 125, 126, 128, 133 Enzyme Induction, 12, 110 Epinephrine, 52, 99, 110, 120, 121 Epithelial, 99, 111, 119 Epithelial Cells, 111, 119 Esophagus, 102, 109, 111, 126, 129 Esterification, 99, 111 Estradiol, 5, 111 Estrogen, 4, 102, 108, 111 Excrete, 111, 126 Exogenous, 110, 111 Exon, 6, 73, 111 F Facial, 111, 132 Fallopian tube, 59, 111 Family Planning, 79, 111 Fat, 50, 99, 104, 107, 108, 111, 117, 118 Fetus, 9, 111, 123, 124, 132 Fluorescence, 6, 111 Flutamide, 17, 34, 111 Follicles, 7, 111 Follicular Atresia, 7, 111 Founder Effect, 35, 111 Friction, 111, 118 G Gas, 52, 111, 114, 120, 121 Gastrin, 111, 114 Gastrointestinal, 12, 104, 110, 111, 112, 129

Gastrointestinal tract, 12, 112 Gene Amplification, 42, 73, 112 Gene Conversion, 49, 112 Gene Dosage, 6, 112 Gene Expression, 10, 14, 112 Gene Rearrangement, 38, 112 Genetic Code, 112, 121 Genetic Engineering, 103, 106, 112 Genetic testing, 112, 124 Genetics, 4, 17, 18, 19, 26, 28, 35, 36, 38, 41, 42, 47, 58, 59, 68, 112 Genital, 9, 10, 13, 14, 30, 36, 51, 57, 58, 68, 106, 112, 125 Genotype, 4, 8, 12, 13, 17, 20, 25, 28, 34, 36, 52, 55, 112, 122 Germ Cells, 112, 118, 121, 129, 130 Germinoma, 64, 112 Gestation, 112, 122, 123 Gestational, 10, 112 Gestational Age, 10, 112 Gland, 12, 15, 84, 99, 108, 113, 115, 122, 123, 125, 127, 129, 130 Glucocorticoid, 4, 6, 10, 12, 36, 40, 109, 113, 114, 119 Glucose, 6, 52, 109, 113, 116, 127 Glucose Intolerance, 6, 109, 113 Glucose tolerance, 113 Glucose Tolerance Test, 113 Glycogen, 12, 113 Glycoproteins, 104, 113 Glycosidic, 113, 121 Gonad, 113 Gonadal, 5, 8, 13, 28, 36, 40, 113, 129 Gonadorelin, 113, 117 Gonadotropin, 5, 7, 23, 37, 43, 113, 117 Governing Board, 113, 124 Granulocytes, 113, 128 Growth factors, 12, 113 Guanylate Cyclase, 113, 121 H Half-Life, 9, 114 Handedness, 39, 114 Haptens, 114, 126 Heredity, 38, 46, 112, 114 Heterogeneity, 38, 52, 114 Heterozygote, 12, 31, 114 Hirsutism, 7, 8, 44, 108, 114, 115 Homeostasis, 12, 114 Homologous, 73, 100, 108, 114, 127, 130 Hormonal, 4, 8, 10, 12, 13, 18, 23, 32, 39, 102, 108, 114 Hormone therapy, 37, 114

138


Hybrid, 26, 114 Hybridization, 41, 54, 73, 114 Hydrocortisone, 17, 21, 26, 29, 34, 39, 53, 54, 64, 65, 114 Hydrogen, 99, 103, 104, 109, 114, 115, 119, 121, 122 Hydrophobic, 7, 114 Hydroxycorticosteroids, 99, 114 Hydroxylation, 16, 115 Hydroxylysine, 106, 115 Hydroxyproline, 106, 115 Hyperandrogenism, 12, 115 Hypersecretion, 5, 65, 115 Hypertension, 4, 16, 21, 40, 43, 68, 115 Hyperthyroidism, 15, 115 Hypertrichosis, 114, 115 Hypertrophy, 108, 115, 131 Hypogonadism, 8, 115 Hypothalamic, 5, 12, 29, 40, 115 Hypothalamus, 113, 115, 118, 123 Hysterectomy, 8, 44, 115 I Immersion, 103, 115 Immune response, 15, 102, 108, 114, 115, 129, 133 Immune system, 103, 115, 132 Immunity, 15, 115 Immunogenic, 115, 126 Immunologic, 105, 112, 115 Immunosuppressive, 113, 115 Impairment, 53, 116 In vitro, 4, 7, 8, 9, 42, 116, 123 In vivo, 4, 7, 9, 12, 116 Induction, 12, 101, 116, 132 Infancy, 23, 64, 65, 116 Infection, 103, 105, 116, 132 Infertility, 4, 43, 55, 116 Inflammation, 99, 102, 114, 116, 123 Information Science, 116, 118 Initiation, 5, 116 Insulin, 8, 12, 113, 116 Insulin-dependent diabetes mellitus, 116 Insulin-like, 12, 116 Interpersonal Relations, 8, 116 Interstitial, 7, 116 Intestines, 102, 109, 111, 112, 116 Intracellular, 116, 121, 124, 128 Intubation, 104, 116 Invasive, 115, 116 Ion Transport, 117, 119 Ionization, 19, 48, 53, 54, 117 Ions, 103, 104, 109, 110, 114, 117

Ischemia, 102, 117 Isoenzyme, 8, 117 K Kb, 78, 117 Keratoconus, 24, 117 Kinetics, 44, 104, 117 L Labile, 106, 117 Latent, 117, 125 Latent period, 117, 125 Leptin, 64, 117 Lesion, 117, 118 Leuprolide, 15, 117 Libido, 101, 117 Ligament, 117, 125 Limbic, 100, 117, 118 Limbic System, 100, 118 Lipid, 45, 116, 118 Lipoid, 13, 45, 47, 118 Liver, 12, 103, 113, 118 Localization, 5, 118 Localized, 99, 114, 115, 116, 118, 123 Lubricants, 118 Lubrication, 9, 118 Lymphocytes, 102, 118 Lymphoid, 101, 118 M Malignant, 99, 102, 118, 120 Malnutrition, 102, 118 Manifest, 4, 118 Mass Screening, 25, 118 Medical Informatics, 4, 118 MEDLINE, 79, 118 Meiosis, 118, 130 Melanocytes, 118, 120 Membrane, 13, 100, 105, 107, 109, 119, 122, 124, 127, 128, 131, 133 Memory, 10, 119 Menarche, 54, 119 Menopause, 8, 119 Menstrual Cycle, 119, 125 Menstruation, 100, 119, 121 Mental, iv, 3, 11, 13, 56, 78, 80, 105, 106, 109, 119, 125 Mental Health, iv, 3, 11, 13, 78, 80, 119 Mesenteric, 119, 124 Meta-Analysis, 37, 119 Metabolite, 7, 119 Metastasis, 119 Microorganism, 119, 133 Microscopy, 5, 119 Mineralocorticoid, 4, 12, 16, 40, 68, 119

139

Mitochondria, 14, 119 Modification, 112, 119, 126 Molecule, 102, 103, 107, 109, 110, 112, 113, 119, 121, 122, 123, 126, 128, 132 Monogenic, 4, 120 Monosomy, 101, 120 Morphology, 5, 120 Mosaicism, 20, 61, 120 Mucins, 113, 120, 127 Multicenter study, 17, 37, 120 N Neonatal, 6, 19, 20, 25, 31, 32, 36, 38, 43, 49, 120 Neonatal period, 6, 120 Neonatal Screening, 19, 20, 31, 32, 36, 38, 43, 120 Neoplasm, 120, 131 Nephropathy, 55, 120 Nephrotic, 118, 120 Nephrotic Syndrome, 118, 120 Networks, 67, 120 Neurogenic, 9, 120 Neuronal, 104, 120 Neurons, 120, 130 Neurotransmitter, 99, 104, 120, 121, 128, 129 Nevus, 20, 120 Nitric Oxide, 9, 120 Nitrogen, 101, 121, 131 Norepinephrine, 99, 120, 121 Nuclei, 100, 110, 112, 118, 121 Nucleic acid, 9, 112, 114, 121 Nucleic Acid Hybridization, 114, 121 Nucleus, 108, 112, 118, 121, 125, 129 O Oligomenorrhea, 121, 123 Oligosaccharides, 7, 121 Oophorectomy, 7, 121 Operon, 121, 127 Optic Nerve, 121, 127 Orgasm, 8, 121 Ovarian Follicle, 108, 111, 121 Ovaries, 7, 39, 102, 115, 121, 123, 128 Ovary, 7, 14, 45, 108, 111, 113, 121 Ovum, 108, 112, 121, 125, 133 Oxidation, 108, 122 P Pancreas, 116, 122, 129 Particle, 122, 131 Pathologic, 12, 99, 122, 127, 132 Pathologies, 10, 122 Pathophysiology, 12, 122

Patient Education, 84, 90, 92, 97, 122 Pediatric Endocrinologist, 6, 122 Pelvic, 9, 122, 125 Pelvis, 104, 121, 122, 132 Peptide, 5, 6, 117, 122, 124, 125 Perinatal, 12, 122 Pharmacologic, 6, 101, 114, 122, 131 Phenotype, 4, 8, 12, 13, 17, 25, 52, 122 Phospholipases, 122, 128 Phospholipids, 111, 122 Phosphorus, 104, 122 Physical Examination, 112, 122 Physiologic, 9, 103, 114, 119, 122, 126, 127 Physiology, 7, 123 Pilot study, 31, 36, 49, 123 Pituitary Gland, 108, 113, 123 Placenta, 102, 111, 123, 125 Plants, 113, 120, 121, 123, 127, 131 Plasma, 9, 29, 33, 50, 53, 101, 105, 113, 119, 123, 126, 127 Plasma cells, 101, 123 Plasma Volume, 119, 123 Plasmid, 112, 123, 132 Platelet Activation, 123, 128 Platelet Aggregation, 101, 120, 123 Platelets, 121, 123 Pneumonia, 107, 123 Point Mutation, 28, 35, 54, 123 Polycystic, 4, 8, 14, 39, 43, 45, 115, 123 Polycystic Ovary Syndrome, 8, 43, 45, 115, 123 Polymerase, 20, 41, 67, 73, 123, 127 Polymerase Chain Reaction, 20, 41, 67, 73, 123 Polymorphism, 26, 28, 68, 124 Polypeptide, 100, 106, 114, 124 Polysaccharide, 102, 124 Portal Vein, 25, 124 Posterior, 17, 100, 105, 109, 122, 124 Postnatal, 10, 14, 20, 23, 124 Postsynaptic, 124, 128 Post-translational, 14, 124 Potassium, 100, 119, 124 Potentiation, 124, 128 Practice Guidelines, 80, 124 Precipitating Factors, 105, 124 Preclinical, 15, 124 Precursor, 101, 109, 110, 121, 124, 131 Pregnancy Complications, 10, 124 Pregnancy Tests, 112, 124 Pregnenolone, 13, 124

140


Prenatal, 4, 7, 8, 9, 10, 13, 17, 20, 23, 27, 30, 31, 39, 42, 48, 50, 51, 53, 54, 55, 56, 110, 124 Prenatal Diagnosis, 4, 8, 9, 17, 42, 51, 124 Prevalence, 38, 125 Probe, 73, 125 Progesterone, 72, 96, 125, 129, 130 Progression, 101, 125 Progressive, 8, 105, 106, 109, 123, 125, 131 Proline, 106, 115, 125 Prophase, 125, 130 Prostate, 32, 125 Protein C, 100, 106, 125 Protein S, 103, 112, 125 Proteins, 100, 102, 103, 104, 105, 106, 114, 119, 121, 122, 123, 125, 127 Proteolytic, 106, 125 Protocol, 49, 125 Proximal, 109, 125, 127 Psychic, 117, 119, 125 Psychosexual, 10, 13, 14, 53, 57, 125 Psychosexual Development, 10, 14, 57, 125 Puberty, 15, 23, 31, 32, 58, 61, 64, 125 Public Policy, 79, 125 Publishing, 16, 116, 125 Pulmonary, 103, 108, 126, 132 Pulmonary hypertension, 108, 126 Q Quality of Life, 8, 13, 57, 126 R Radiation, 111, 126 Radioactive, 114, 117, 126 Radiography, 112, 126 Radioimmunoassay, 54, 72, 126 Randomized, 110, 126 Receptor, 7, 15, 18, 102, 126, 128 Recombinant, 112, 126, 132 Recombination, 112, 126 Rectum, 102, 109, 111, 125, 126 Reductase, 32, 102, 126 Refer, 1, 106, 118, 126, 131 Reflux, 59, 126 Refraction, 126, 129 Regimen, 110, 126 Reliability, 38, 126 Renal tubular, 40, 126 Renal tubular acidosis, 40, 126 Renin, 29, 60, 101, 126 Repressor, 14, 121, 127 Resorption, 111, 127 Retina, 12, 105, 121, 127, 133

Retroperitoneal, 99, 127 Reversion, 12, 127 Risk factor, 8, 105, 127 S Saliva, 41, 127 Salivary, 26, 127 Salivary glands, 127 Saponins, 127, 129 Screening, 6, 7, 11, 19, 29, 41, 42, 49, 52, 54, 55, 60, 61, 106, 120, 127 Sebaceous, 127, 132 Sebaceous gland, 127, 132 Secretion, 4, 5, 8, 31, 40, 42, 43, 65, 99, 108, 113, 115, 116, 119, 120, 127, 132 Segregation, 112, 126, 127 Semen, 102, 125, 127 Sensor, 7, 127 Septal, 25, 118, 127 Sequencing, 124, 127 Serum, 9, 55, 65, 96, 101, 106, 113, 119, 126, 127 Serum Albumin, 126, 127 Sex Characteristics, 72, 101, 125, 128, 130 Sex Determination, 33, 128 Shock, 97, 114, 128 Shunt, 25, 128 Side effect, 100, 103, 104, 128, 131 Signal Transduction, 9, 128 Skeletal, 23, 72, 101, 128 Skeleton, 128 Skull, 128, 130 Small intestine, 114, 116, 128, 132 Smooth muscle, 9, 101, 128, 129 Social Environment, 126, 128 Sodium, 100, 119, 128 Solvent, 72, 128 Soma, 129 Somatic, 46, 118, 129 Specialist, 4, 86, 129 Species, 110, 111, 114, 118, 129, 133 Specificity, 42, 104, 129 Spectrum, 8, 49, 129 Sperm, 101, 106, 129 Spermatogenesis, 4, 38, 129 Spermatozoa, 102, 127, 129 Spinal cord, 105, 129 Splenic Vein, 124, 129 Sterility, 43, 44, 51, 52, 53, 60, 116, 129 Steroid, 4, 5, 7, 15, 16, 17, 18, 21, 26, 32, 36, 38, 41, 42, 44, 47, 50, 59, 64, 68, 72, 73, 102, 108, 124, 127, 129 Stimulus, 107, 129, 130

141

Stomach, 104, 109, 111, 112, 113, 114, 116, 126, 128, 129 Strand, 123, 129 Stress, 12, 108, 129 Substance P, 119, 127, 129 Support group, 86, 130 Suppression, 36, 51, 62, 108, 130 Sympathomimetic, 110, 121, 130 Symphysis, 105, 125, 130 Synapse, 99, 130 Synapsis, 130 Synaptic, 5, 120, 128, 130 Systemic, 103, 106, 110, 116, 130, 131 Systolic, 115, 130 T Tachycardia, 60, 130 Temporal, 5, 47, 100, 130 Temporal Lobe, 47, 100, 130 Terminator, 106, 130 Testicular, 5, 14, 21, 36, 38, 56, 102, 130 Testis, 111, 130 Testolactone, 17, 34, 130 Testosterone, 5, 22, 64, 126, 130 Thermal, 109, 123, 130 Threshold, 115, 130 Thyroid, 12, 84, 115, 130 Thyroid Gland, 115, 130 Tissue, 5, 7, 9, 12, 21, 51, 99, 102, 103, 104, 105, 106, 107, 109, 110, 113, 115, 116, 117, 118, 119, 120, 123, 127, 128, 129, 131 Tolerance, 59, 113, 131 Tone, 9, 131 Tonus, 131 Topical, 99, 131 Toxic, iv, 5, 115, 131 Toxicity, 104, 131 Toxicology, 80, 131 Toxin, 131 Trachea, 104, 130, 131 Transduction, 9, 128, 131 Transfection, 103, 131 Translational, 14, 131 Translocation, 13, 131 Tricuspid Atresia, 108, 131 Trisomy, 101, 131

Trophic, 13, 131 Tryptophan, 106, 131 Tumour, 60, 131 U Ultrasonography, 112, 132 Ureters, 132 Urethra, 125, 132 Urine, 7, 103, 132 Uterus, 104, 108, 110, 115, 119, 121, 125, 132 V Vaccine, 15, 59, 125, 132 Vagina, 9, 29, 119, 132 Vaginal, 9, 60, 68, 118, 132 Vascular, 8, 105, 110, 116, 120, 121, 123, 130, 132 Vasoactive, 9, 132 Vasoconstriction, 110, 132 Vasodilators, 120, 132 Vector, 131, 132 Vein, 124, 129, 132 Ventricle, 100, 102, 107, 115, 130, 131, 132 Ventricular, 60, 107, 131, 132 Vesicoureteral, 59, 132 Veterinary Medicine, 79, 132 Villi, 39, 132 Villus, 96, 132 Viral, 131, 132 Virilism, 115, 132 Virilization, 6, 11, 72, 132 Virus, 112, 131, 132 Viscera, 129, 133 Vitreous, 127, 133 Vitreous Body, 127, 133 Vitro, 133 Vivo, 9, 133 W Windpipe, 130, 133 X Xenograft, 101, 133 Y Yeasts, 122, 133 Z Zygote, 107, 120, 133

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