Molecular and Cellular Pediatric Endocrinology

318 Pages·1999·11.333 MB·English

by  Gary D. Berkovitz MD (auth.), Dr. Stuart Handwerger MD (eds.)

MoLECUIAR AND CELLUIAR
PEDIATRIC
ENDOCRINOLOGY
CoNTEMPORARY ENDOCRINOLOGY
P. Michael Conn,
SERIEs EDITOR
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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
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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