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Molecular and Cellular Pediatric Endocrinology PDF

318 Pages·1999·11.333 MB·English
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MoLECUIAR AND CELLUIAR PEDIATRIC ENDOCRINOLOGY CoNTEMPORARY ENDOCRINOLOGY P. Michael Conn, SERIEs EDITOR 21. Hormonesand the Heart in Health and Disease, edited by LEONARD SHARE, 1999 20. Endocrinofogy ofA ging, edited by ]OHNE. MORLEY AND LUCRETIA VAN DEN BERG, 1999 19. Human Growth Hormone: Research and Clinical Practice, edited by Rar G. SMITH AND MICHAEL 0. THORNER, 1999 18. Menopause: Endocrinology and Management, edited by DAVJD B. SEIFERAND ELIZABETH A. KENNARD, 1999 17. The IGF System: Molecu/ar Biology, Physiology, and ClinicalApplications, edited by RoN G. RosENFELD AND CHARLES RoBERTS, 1999 16. Neurosteroids: A New Regulatory Function in the Nervous System, edited by ETIENNE-EMILE BAuuw, PAuL RosEL, AND MICHAEL ScHUMACHER, 1999 15. Autoimmune Endocrinopathies, edited by RoBERT VoLPE, 1999 14. Hormone Resistance Syndromes, edited by J. LARRY lAMESON, 1999 13. Hormone Replacement Therapy, edited by A. WAYNE MEIKLE, 1999 12. Insulin Resistance: The Metabolie Syndrome X, edited by GERALD M. REAVEN AND AMI LAWS, 1999 11. Endocrinology ofB reast Cancer, edited by ANDREA MANN!, 1999 10. Molecu/ar and Cellular Pediatric Endocrinology, edited by SruART HANDWERGER, 1999 9. The Endocrinology ofP regnancy, edited by FuLLER W. BAZER, 1998 8. Gastrointestinal Endocrinology, edited by GEORGE H. GREELEY, 1998 7. Clinical Management ofD iabetic Neuropathy, edited by ARISTJDIS VEVES, 1998 6. G Protein-Coupled Receptors and Disease, edited by ALLEN M. SPIEGEL, 1997 5. Natriuretic Peptides in Health and Disease, edited by Wnus K. SAMSON AND ELLIS R. LEVIN, 1997 4. Endocrinology of Critical Diseases, edited by K. PA TRICK OBER, 1997 3. Diseases ofthe Pituitary: Diagnosis and Treatment, edited by MARGARET E. W!ERMAN, 1997 2. Diseases ofthe Thyroid, edited by LEWIS E. BRAVERMAN, 1997 1. Endocrinology ofthe Vasculature, edited by lAMES R. SowERS, 1996 MOLECUIAR AND CEII,UIAR PEDIATRIC ENDOCRINOWGY Edited by MD STUART HANDWERGER, Children's Hospital Medical Center, Cincinnati, OH * SPRINGER SCIENCE+BUSINESS MEDIA, LLC © 1999 Springer Science+Business Media New York Origina11y published by Humana Press 1nc. in 1999 Softcover reprint ofthe hardcover 1st edition 1999 AII rights reserved. No part ofthis book may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, microfilming, recording, or otherwise without written permission from the Publisher. Ali articles, comments, opinions, conclusions, or recommendations are those ofthe author(s), and do not necessarily reflect the views of the publisher. This publication is printed on acid-free paper. <QQ) ANSI 239.48-1984 (American National Standards Institute) Permanence of Paper for Printed Library Materials. Photocopy Authorization Policy: Authorization to photocopy items for interna! or personal use, or the interna! or personal use of specific clients, is granted by Springer Science+Business Media, LLC., provided that the base fee ofUS $8.00 per copy, plus US $00.25 per page, is paid directly to the Copyright Clearance Center at 222 Rosewood Drive, Danvers, MA 01923. For those organizations that have been granted a photocopy license from the cec, a separate system ofpayment has been arranged and is acceptable to Springer Science+Business Media, LLC. The fee code for users of the Transactional Reporting Service is: (0-89603-406-2/98 $8.00 + $00.25). Molecular and cellular pediatric endocrinology/edited by Stuart Handwerger. p. cm.-{Contemporary endocrinology; 10) Includes index. ISBN 978-1-4757-5875-7 ISBN 978-1-59259-697-3 (eBook) DOI 10.1007/978-1-59259-697-3 1. Pediatric endocrinology. 2. Molecular endocrinology. 3. Endocrine glands--diseases. 1. Handwerger, Stuart. Il. Series: Contemporary endocrinology (Totowa, NJ); 1O . [DNLM: 1. Endocrine Diseases-in infancy & childhood. WS930 M718 1999) RJ418.M64 1999 618.92'4--dc21 DNLM/DLC for Library of Congress 98-50918 CIP PREFACE During the past decade, there have been many advances in understanding the molecu lar and cellular basis of endocrine disorders. Many of these advances in molecular and cellular biology have resulted in new methods for diagnosis and better treatments of pediatric endocrine diseases. It is impossible to discuss all of these important advances in a single volume. The purpose oftbis volume is to focus on selected areas of endocri nology that have seen some ofthe mostrapid changes. The first seven chapters ofthe book focus primarily on the members ofthe growth hormone/prolactin/placentallactogen gene family and the regulation of growth. The next five chapters deal primarily with steroid hormones, sexual development, and mineralocorticoid action; and the next two deal with the pathophysiology of diabetes mellitus. The remaining chapters focus on the molecular genetics ofthyroid cancer, the molecular basis ofhypophosphatemic rickets, and inher ited diabetes insipidus. I wish to express my gratitude to Dr. P. Michael Conn for his help and encouragement and to the staff at Humana Press for assisting me in the preparation of this volume. I am also grateful to the authors of the chapters for taking time from their busy schedules to write the chapters. I would also like to thank some very special people who have played critical roles in my career: Max Baum, Alsoph Corwin, Horace Hodes, Jesse Roth, Paul di Sant'Agnese, John Crigler, Louis Sherwood, and Samuel Katz. Stuart Handwerger V I would like to dedicate this volume to Bobbi, David, and Rache/. Thank you for your Iove and support these many years. CONTENTS Preface ........................................................................................................ v Contributors .............................................................................................. ix 1 Molecular Basis of Disorders of Sexual Differentiation ................. 1 Gary D. Berkovitz and Tossaporn Seeherunvong 2 Insulin-Like Growth Factor Control of Growth: Insights from Targeted Disruption ofM urine Genes and from Human Disease ........................................................... 11 Steven D. Chernausek 3 Molecular Defects in the Growth Hormone Axis .......................... 23 Joy D. Cogan and John A. Phillips 111 4 The Molecular Basis of Hypophosphatemic Rickets ..................... 39 Michael J. Econs and Tim M. Strom 5 The Roles of Growth Hormone, Prolactin, and Placental Lactogen in Human Fetal Development: Critical Analysis ofM olecular, Cellular, and Clinical lnvestigations ......................................... 57 Michael Freemark 6 Growth Hormone Releasing Hormone: Biological and Molecu/ar Aspects ........................................................................................ 85 Paul L. Hofman and 0. H. Pescovitz 7 The Glomerular Physiology of Diabetic Nephropathy ................ 113 David J. Klein 8 P450c17-The Qualitative Regulator of Steroidogenesis .......... 139 Walter L. Miller 9 The Molecular Basis of Inherited Diabetes Insipidus .................. 153 David R. Repaske 10 Molecular Biology ofGonadotropin-Releasing Hormone and the Gonadotropin-Releasing Hormone Receptor .............. 179 Dorothy I. Shulman and Barry B. Bereu 11 Es trogen Biology: Evolving New Concepts ................................. 191 Eric P. Smith 12 Molecular Genetics of Thyroid Cancer: Evidence That Inactivation of Tumor Suppressor Genes Occurs at Late Stages of Tumor Progression ............................................................................... 20 I Laura S. Ward and James A. Fagin 13 The Molecular Basis of Mineralocorticoid Action ...................... 213 Perrin C. White 14 Molecular Aspects ofPituitary Development .............................. 231 Philip S. Zeit/er and Cheryl A. Pickett vii vm Contents 15 Physiology and Molecular Biology of Placental Lactogen in Human Pregnancy ................................................................ 253 Randall G. Richards and Stuart Handwerger 16 Molecular and Cellular Basis oflmmune-Mediated (Type 1) Diabetes .................................................................................... 2 71 Regis Coutant and Noel K. MacLaren 17 Molecular Basis ofMultiple Pituitary Hormone Deficiency ....... 297 lohn S. Parks and Mi/ton R. Brown Index ....................................................................................................... 309 CONTRIBUTORS BARRY B. BERCU • Department of Pediatrics, University of Florida College of Medicine, Tampa, FL, and All Children's Hospital, St. Petersburg, FL GARY D. BERKOVITZ • Maiiman Center for Child Development, University ofM iami School of Medicine, Miami, FL MILTON R. BROWN •Division of Pediatric Endocrinology, Emory University School of Medicine, Atlanta, GA STEVEN D. CHERNAUSEK • Division ofE ndocrinology, Children 's Hospital Medical Center, Cincinnati, OH Jov D. CoGAN • Department of Pediatrics, Vanderbilt University School ofM edicine, Nashville, TN REGIS CouTANT • Department of Pathology!Pediatrics, University ofF lorida College of Medicine, Gainesville, FL MICHAEL J. EcoNs • Department of Medicine, Indiana University Medical Center, Indianapolis, IN JAMES A. FAGIN • Division ofEndocrinology and Metabolism, University ofCincinnati College of Medicine, Cincinnati, OH MICHAEL FREEMARK • Departments of Pediatrics and Ce!! Biology, Duke University Medical Center, Durham, NC STUART HANDWERGER • Division of Endocrinology, Children 's Hospital Medical Cen ter, Cincinnati, OH PAUL L. HoFMAN • James Whitcomb Riley Hospital for Children, Indianapolis, IN DAVID J. KLEIN • Division of Endocrinology, Children 's Hospital Medical Center, Cincinnati, OH NoEL K. McCLAREN • Department ofP athology/Pediatrics, University of Florida Col lege of Medicine, Gainesville, FL WALTER L. MILLER • Department of Pediatrics and the Metabolie Research Unit, Uni versity of California, San Francisco, CA HuGO W. MosER • lohn F. Kennedy Institute, Johns Hopkins Institute, Baltimore, MD JoHN S. PARKS • Division ofP ediatric Endocrinology, Emory University School of Medicine, Atlanta, GA 0. H. PEscoviTZ • James Whitcomb Riley Hospital for Children, Indianapolis, IN JoHN A. PHILLIPS, lii • Department ofP ediatrics, Vanderbilt University School of Medicine, Nashville, TN CHERYL A. PICKETT • Departments ofP ediatrics and Interna! Medicine, University of Colorado Health Seiences Center, The Children 's Hospital, Denver, CO DAVID R. REPASKE • Division of Endocrinology, Children 's Hospital Medical Center, Cincinnati, OH RANDALL C. RICHARDS • Division ofE ndocrinology, Children 's Hospital Medical Cen ter, Cincinnati, OH TossAPORN SEEHERUNVONG • Maiiman Center for Child Development, University of Miami School ofM edicine, Miami, FL DoROTHY I. SHULMAN • Department of Pediatrics, University ofF lorida College of Medicine, Tampa, FL, and All Children 's Hospital, St. Petersburg, FL ix

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