Pediatric endocrinology a practical clinical guide

Pediatric

Endocrinology

A Practical Clinical

Guide

Edited by

Sally Radovick, MD

Margaret H. MacGillivray, MD

CONTEMPORARY ENDOCRINOLOGY™

Pediatric

Endocrinology

A Practical Clinical

Guide

Edited by

Sally Radovick, MD

Margaret H. MacGillivray, MD

Contents i

PEDIATRIC ENDOCRINOLOGY

ii Contents

CONTEMPORARY ENDOCRINOLOGY

P. Michael Conn, SERIES EDITOR

Pediatric Endocrinology: A Practical Clinical

Guide, edited by SALLY RADOVICK AND

MARGARET H. MACGILLIVRAY, 2003

Androgens in Health and Disease, edited by

CARRIE BAGATELL AND WILLIAM J. BREMNER,

2003

Endocrine Replacement Therapy in Clinical

Practice, edited by A. WAYNE MEIKLE,

2003

Early Diagnosis of Endocrine Diseases, edited

by ROBERT S. BAR, 2003

Type I Diabetes: Etiology and Treatment,

edited by MARK A. SPERLING, 2003

Handbook of Diagnostic Endocrinology, edited by

JANET E. HALL AND LYNNETTE K. NIEMAN, 2003

Diseases of the Thyroid, 2nd ed., edited by

LEWIS E. BRAVERMAN, 2003

Developmental Endocrinology: From Research

to Clinical Practice, edited by ERICA A.

EUGSTER AND ORA HIRSCH PESCOVITZ, 2002

Osteoporosis: Pathophysiology and Clinical

Management, edited by ERIC S. ORWOLL

AND MICHAEL BLIZIOTES, 2002

Challenging Cases in Endocrinology, edited by

MARK E. MOLITCH, 2002

Selective Estrogen Receptor Modulators:

Research and Clinical Applications,

edited by ANDREA MANNI AND MICHAEL F.

VERDERAME, 2002

Transgenics in Endocrinology, edited by

MARTIN MATZUK, CHESTER W. BROWN,

AND T. RAJENDRA KUMAR, 2001

Assisted Fertilization and Nuclear Transfer

in Mammals, edited by DON P. WOLF

AND MARY ZELINSKI-WOOTEN, 2001

Adrenal Disorders, edited by ANDREW N.

MARGIORIS AND GEORGE P. CHROUSOS,

2001

Endocrine Oncology, edited by STEPHEN P.

ETHIER, 2000

Endocrinology of the Lung: Development and

Surfactant Synthesis, edited by CAROLE

R. MENDELSON, 2000

Sports Endocrinology, edited by MICHELLE P.

WARREN AND NAAMA W. CONSTANTINI, 2000

Gene Engineering in Endocrinology, edited by

MARGARET A. SHUPNIK, 2000

Endocrinology of Aging, edited by JOHN E. MORLEY AND

LUCRETIA VAN DEN BERG, 2000

Human Growth Hormone: Research and Clinical

Practice, edited by ROY G. SMITH AND MICHAEL

O. THORNER, 2000

Hormones and the Heart in Health and Disease,

edited by LEONARD SHARE, 1999

Menopause: Endocrinology and Management,

edited by DAVID B. SEIFER AND ELIZABETH A.

KENNARD, 1999

The IGF System: Molecular Biology, Physiology,

and Clinical Applications, edited by RON G.

ROSENFELD AND CHARLES T. ROBERTS, JR., 1999

Neurosteroids: A New Regulatory Function in the

Nervous System, edited by ETIENNE-EMILE

BAULIEU, MICHAEL SCHUMACHER, AND PAUL

ROBEL, 1999

Autoimmune Endocrinopathies, edited by ROBERT

VOLPÉ, 1999

Hormone Resistance Syndromes, edited by J. LARRY

JAMESON, 1999

Hormone Replacement Therapy, edited by A. WAYNE

MEIKLE, 1999

Insulin Resistance: The Metabolic Syndrome X,

edited by GERALD M. REAVEN AND AMI LAWS, 1999

Endocrinology of Breast Cancer, edited by ANDREA

MANNI, 1999

Molecular and Cellular Pediatric Endocrinology,

edited by STUART HANDWERGER, 1999

Gastrointestinal Endocrinology, edited by GEORGE H.

GREELEY, JR., 1999

The Endocrinology of Pregnancy, edited by FULLER

W. BAZER, 1998

Clinical Management of Diabetic Neuropathy,

edited by ARISTIDIS VEVES, 1998

G Proteins, Receptors, and Disease, edited by ALLEN

M. SPIEGEL, 1998

Natriuretic Peptides in Health and Disease, edited by

WILLIS K. SAMSON AND ELLIS R. LEVIN, 1997

Endocrinology of Critical Disease, edited by K.

PATRICK OBER, 1997

Diseases of the Pituitary: Diagnosis and Treatment,

edited by MARGARET E. WIERMAN, 1997

Diseases of the Thyroid, edited by LEWIS E.

BRAVERMAN, 1997

Endocrinology of the Vasculature, edited by JAMES R.

SOWERS, 1996

Contents iii

PEDIATRIC

ENDOCRINOLOGY

A PRACTICAL CLINICAL GUIDE

Edited by

SALLY RADOVICK, MD

University of Chicago Medical Center,

Chicago, IL

MARGARET H. MACGILLIVRAY, MD

Children’s Hospital of Buffalo,

Buffalo, NY

HUMANA PRESS

TOTOWA, NEW JERSEY

iv Contents

© 2003 Humana Press Inc.

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from the Publisher.

Due diligence has been taken by the publishers, editors, and authors of this book to assure the accuracy of the

information published and to describe generally accepted practices. The contributors herein have carefully checked to

ensure that the drug selections and dosages set forth in this text are accurate and in accord with the standards accepted at

the time of publication. Notwithstanding, as new research, changes in government regulations, and knowledge from

clinical experience relating to drug therapy and drug reactions constantly occurs, the reader is advised to check the product

information provided by the manufacturer of each drug for any change in dosages or for additional warnings and

contraindications. This is of utmost importance when the recommended drug herein is a new or infrequently used drug.

It is the responsibility of the treating physician to determine dosages and treatment strategies for individual patients.

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Printed in the United States of America. 10 9 8 7 6 5 4 3 2 1

Library of Congress Cataloging-in-Publication Data:

Pediatric endocrinology : a practical clinical guide / edited by Sally Radovick, Margaret

H. MacGillivray

p. ; cm. -- (Contemporary endocrinology)

Includes bibliographical references and index.

ISBN 0-89603-946-3 (alk. paper) 1-59259-336-4 (e-ISBN)

1. Pediatric endocrinology. I. Radovick, Sally. II. MacGillivray, Margaret H., 1930–

III. Contemporary endocrinology (Totowa, N. J.)

[DNLM: 1. Endocrine Diseases--Child. WS 330 P3715 2003]

RJ418 .P435 2003

618.92’4--dc21

2002032813

Contents v

PREFACE

v

The aim of Pediatric Endocrinology: A Practical Clinical Guide is to provide practical

detailed and concise guidelines for the clinical management of pediatric endocrine dis￾eases and disorders. The audience is thus all those pediatric endocrinologists, pediatri￾cians, and primary care physicians who provide medical care for children and adolescents.

The scope of the text includes the most common and the most challenging diseases and

disorders seen by both primary care physicians and pediatric endocrinologists. We have

encouraged the involvement of a junior coauthor for many articles to give recognition to

our young investigators in the field. We believe we have assembled a state-of-the-art

book on the “how to’s” of pediatric endocrinology.

Although the main focus is on diagnosis and treatment, each author has included a brief

discussion on pathophysiology and molecular mechanisms. The chapters are prepared

in such a way that there is a consistency of organization. After the introductory discussion

of the problem with background information, there is a brief overview of recent progress

on the mechanism involved. The clinical features that characterize each condition are

discussed. Criteria used to establish a diagnosis are delineated. The therapy section is

the most comprehensive and reviews the options available and the risks and benefits of

each approach. Outcome data are included as well as information on the long-term safety

and efficacy of the treatment modality. Where relevant, psychosocial and quality-of-life

issues are discussed.

Sally Radovick, MD

Margaret H. MacGillivray, MD

vi Contents

Contents vii

CONTENTS

Preface ........................................................................................................ v

Contributors .............................................................................................. xi

Part I GROWTH DISORDERS

1 Hypopituitarism................................................................................. 3

Diego Botero, Olcay Evliyaoglu, and Laurie E. Cohen

2 Growth Hormone Insensitivity Syndrome....................................... 37

Arlan L. Rosenbloom

3 Growth Hormone Treatment of Children with Idiopathic Short

Stature or Growth Hormone Sufficient Short Stature ................. 67

Jean-Claude Desmangles, John Buchlis,

and Margaret H. MacGillivray

4 Growth Hormone Treatment of Children

Following Intrauterine Growth Failure........................................ 79

Steven D. Chernausek

5 Growth Suppression by Glucocorticoids:

Mechanisms, Clinical Significance, and Treatment Options ................ 93

David B. Allen

6 Growth Hormone Therapy in Prader-Willi Syndrome.................. 105

Aaron L. Carrel and David B. Allen

7 Turner Syndrome........................................................................... 117

Marsha L. Davenport and Ron G. Rosenfeld

8 Management of Adults

with Childhood Growth Hormone Deficiency .......................... 139

David M. Cook

Part II HYPOTHALAMIC AND PITUITARY DISORDERS

9 Diabetes Insipidus .......................................................................... 155

Frederick D. Grant

10 Management of Endocrine Dysfunction

Following Brain Tumor Treatment ........................................... 173

Stuart A. Weinzimer and Thomas Moshang, Jr.

11 Endocrinologic Sequelae of Anorexia Nervosa ............................... 189

Catherine M. Gordon and Estherann Grace

vii

viii Contents

Part III ADRENAL DISORDERS

12 Adrenal Insufficiency ..................................................................... 203

Kathleen E. Bethin and Louis J. Muglia

13 Congenital Adrenal Hyperplasia .................................................... 227

Lenore S. Levine and Sharon E. Oberfield

14 Cushing Syndrome in Childhood .................................................. 249

Sandra Bonat and Constantine A. Stratakis

15 Mineralocorticoid Disorders .......................................................... 261

Christina E. Luedke

Part IV THYROID DISORDERS

16 Congenital Hypothyroidism .......................................................... 275

Cecilia A. Larson

17 Autoimmune Thyroid Disease ....................................................... 291

Stephen A. Huang and P. Reed Larsen

18 Resistance to Thyroid Hormone and TSH Receptor Mutations ........ 309

Ronald N. Cohen

19 Thyroid Cancer in Children and Adolescents ................................ 327

Charles A. Sklar and Michael P. La Quaglia

Part V CALCIUM AND BONE DISORDERS

20 Abnormalities in Calcium Homeostasis ......................................... 343

Ruben Diaz

21 Rickets: The Skeletal Disorders of Impaired Calcium

or Phosphate Availability ......................................................... 365

Bat-Sheva Levine and Thomas O. Carpenter

Part VI REPRODUCTIVE DISORDERS AND CONTRACEPTION

22 Delayed Puberty ............................................................................. 383

Diane E. J. Stafford

23 Precocious Puberty: Clinical Management..................................... 399

Henry Rodriguez and Ora H. Pescovitz

24 Management of Infants Born with Ambiguous Genitalia .............. 429

Margaret H. MacGillivray and Tom Mazur

25 Menstrual Disorders and Hyperandrogenism in Adolescence ............ 451

Robert L. Rosenfield

26 Contraception ................................................................................ 479

Helen H. Kim

Part VII METABOLIC DISORDERS

27 Hypoglycemia ................................................................................ 511

Charles A. Stanley

Contents ix

28 Diabetes Mellitus in Children and Adolescents ............................. 523

William V. Tamborlane and JoAnn Ahern

Part VIII MEN

29 Multiple Endocrine Neoplasia Syndromes ..................................... 535

Michael S. Racine and Pamela Thomas

Part IX ENDOCRINE AND CRITICAL ILLNESS

30 The Endocrine Response to Critical Illness.................................... 551

Michael S. D. Agus

Index ....................................................................................................... 565

x Contents

Contents xi

CONTRIBUTORS

xi

MICHAEL S. D. AGUS, MD, Division of Pediatric Critical Care, Boston Medical Center,

Boston, MA

JOANN AHERN, MSN, APRN, CDE, Department of Pediatrics and The Yale Children’s

Clinical Research Center, New Haven, CT

DAVID B. ALLEN, MD, Department of Pediatrics, University of Wisconsin Children’s

Hospital, Madison, WI

KATHLEEN E. BETHIN, MD, PhD, Department of Pediatrics, Washington University

School of Medicine, St. Louis, MO

SANDRA BONAT, MD, National Institute of Child Health and Human Development,

National Institutes of Health, Bethesda, MD

DIEGO BOTERO, MD, Division of Pediatric Endocrinology, Children’s Hospital, Boston, MA

JOHN BUCHLIS, MD, Division of Endocrinology, Children’s Hospital of Buffalo, Buffalo, NY

THOMAS O. CARPENTER, MD, Department of Pediatrics, Yale University School

of Medicine, New Haven, CT

AARON L. CARREL, MD, Department of Pediatrics, University of Wisconsin

Children’s Hospital, Madison, WI

STEVEN D. CHERNAUSEK, MD, Division of Endocrinology, Children’s Hospital Medical

Center, Cincinnati, OH

LAURIE E. COHEN, MD, Division of Pediatric Endocrinology, Children’s Hospital, Boston, MA

RONALD N. COHEN, MD, Section of Endocrinology, Department of Medicine,

The University of Chicago, Chicago, IL

DAVID M. COOK, MD, Division of Endocrinology, Oregon Health Sciences University,

Portland, OR

MARSHA L. DAVENPORT, MD, Division of Pediatric Endocrinology, University

of North Carolina School of Medicine, Chapel Hill, NC

JEAN-CLAUDE DESMANGLES, MD, Division of Endocrinology, Children’s Hospital

of Buffalo, Buffalo, NY

RUBEN DIAZ, MD, PhD, Division of Endocrinology, Children’s Hospital, Boston, MA

OLCAY EVLIYAOGLU, MD, Division of Pediatric Endocrinology, Children’s Hospital,

Boston, MA

CATHERINE M. GORDON, MD, MSC, Divisions of Endocrinology and Adolescent

Medicine, Children’s Hospital, Boston, MA

ESTHERANN GRACE, MD, Division of Adolescent Medicine, Children’s Hospital, Boston, MA

FREDERICK D. GRANT, MD, Endocrine-Hypertension Division, Brigham and Women’s

Hospital, Boston, MA

STEPHEN A. HUANG, MD, Division of Endocrinology, Children’s Hospital, Boston, MA

HELEN H. KIM, MD, Department of Obstetrics and Gynecology

and Section of Pediatric Endocrinology, The University of Chicago, Chicago, IL

MICHAEL P. LA QUAGLIA, MD, Department of Surgery, Memorial Sloan-Kettering

Cancer Center, New York, NY

xii Contributors Contents

P. REED LARSEN, MD, Thyroid Diagnostic Center, Brigham and Women’s Hospital,

Boston, MA

CECILIA A. LARSON, MD, New England Newborn Screening Program, Jamaica Plain, MA

BAT-SHEVA LEVINE, MD, MPH, Division of Endocrinology, Children’s Hospital, Boston, MA

LENORE S. LEVINE, MD, Division of Pediatric Endocrinology, Diabetes and Metabolism,

Columbia University College of Physicians and Surgeons, New York, NY

CHRISTINA E. LUEDKE, MD, PhD, Division of Endocrinology, Children’s Hospital, Boston, MA

MARGARET H. MACGILLIVRAY, MD, Division of Endocrinology, Children’s Hospital

of Buffalo, Buffalo, NY

TOM MAZUR, PsyD, Division of Endocrinology, Children’s Hospital of Buffalo, Buffalo, NY

THOMAS MOSHANG, JR., MD, Division of Endocrinology and Diabetes, The Children’s

Hospital of Philadelphia, Philadelphia, PA

LOUIS J. MUGLIA, MD, PhD, Department of Pediatrics, Washington University School

of Medicine, St. Louis, MO

SHARON E. OBERFIELD, MD, Division of Pediatric Endocrinology, Diabetes and Metabolism,

Columbia University College of Physicians and Surgeons, New York, NY

ORA H. PESCOVITZ, MD, Section of Pediatric Endocrinology and Diabetology, James

Whitcomb Riley Hospital for Children, Indiana University School of Medicine,

Indianapolis, IN

MICHAEL S. RACINE, MD, Division of Pediatric Endocrinology, University of Michigan

Medical Center, Ann Arbor, MI

SALLY RADOVICK, MD, Section of Pediatric Endocrinology, University of Chicago

Medical Center, Chicago, IL

HENRY RODRIGUEZ, MD, Section of Pediatric Endocrinology and Diabetology, James

Whitcomb Riley Hospital for Children, Indiana University School of Medicine,

Indianapolis, IN

ARLAN L. ROSENBLOOM, MD, Division of Endocrinology, Department of Pediatrics,

University of Florida College of Medicine; Florida Department of Health,

Children’s Medical Services, Gainesville, FL

RON G. ROSENFELD, MD, Department of Pediatrics, Oregon Health & Science

University, Portland, OR

ROBERT L. ROSENFIELD, MD, Department of Pediatrics, The University of Chicago

Children’s Hospital, Chicago, IL

CHARLES A. SKLAR, MD, Department of Pediatrics, Memorial Sloan-Kettering Cancer

Center, New York, NY

DIANE E. J. STAFFORD, MD, Division of Endocrinology, Children’s Hospital, Boston, MA

CHARLES A. STANLEY, MD, Division of Endocrinology/Diabetes, The Children’s

Hospital of Philadelphia, Philadelphia, PA

CONSTANTINE A. STRATAKIS, MD,D(MED)SC, National Institute of Child Health

and Human Development, National Institutes of Health, Bethesda, MD

WILLIAM V. TAMBORLANE, MD, Department of Pediatrics, Pediatric Pharmacology

Research Unit and Children’s Clinical Research Center, Yale University School

of Medicine, New Haven, CT

PAMELA THOMAS, MD, Division of Pediatric Endocrinology, University of Michigan

Medical Center, Ann Arbor, MI

STUART A. WEINZIMER, MD, Department of Pediatrics, Yale University School

of Medicine, New Haven, CT

Chapter 1 / Hypopituitarism 1

I GROWTH DISORDERS

2 Part I / Botero et al.