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ENDOCRINOLOGY
This page intentionally left blank
 VOLUME I

ENDOCRINOLOGY
ADULT AND PEDIATRIC 6th Edition

Senior Editors
J. Larry Jameson, MD, PhD Leslie J. De Groot, MD
Professor of Medicine, Dean Research Professor
Northwestern University Feinberg School of Medicine Cellular and Life Sciences
Northwestern University University of Rhode Island, Providence Campus
Chicago, Illinois Providence, Rhode Island

Section Editors
David de Kretser, AO, FAA, FTSE, MD, John T. Potts, Jr, MD
FRACP Jackson Distinguished Professor of Clinical Medicine
Emeritus Professor Harvard Medical School;
Monash Institute of Medical Research Director of Research and Physician-in-Chief Emeritus
Monash University Department of Medicine
Clayton, Melbourne, Victoria, Australia Massachusetts General Hospital
Boston, Massachusetts
Ashley Grossman, BA, BSc, MD, FRCP,
FMedSci Gordon C. Weir, MD
Professor of Neuroendocrinology Head, Section on Islet Transplantation and Cell Biology
Endocrinology Diabetes Research and Wellness Foundation Chair
St. Bartholomew’s Hospital Joslin Diabetes Center;
London, United Kingdom Professor of Medicine
Harvard Medical School
Boston, Massachusetts
John C. Marshall, MD, PhD
Andrew D. Hart Professor of Internal Medicine
Director Center for Research in Reproduction Associate Editor
Department of Medicine
University of Virginia School of Medicine Harald Jüppner, MD
Charlottesville, Virginia Professor of Pediatrics
Endocrine Unit and Pediatric Nephrology Unit
Shlomo Melmed, MD Massachusetts General Hospital and Harvard Medical
Senior Vice President, Academic Affairs and Dean of School
the Faculty Boston, Massachusetts
Cedars Sinai Medical Center
Los Angeles, California

With 1317 illustrations and 26 color plates

1600 John F. Kennedy Blvd.
Ste 1800
Philadelphia, PA 19103-2899

Endocrinology Part number: 9-9960-7447-1 (vol 1)

Part number: 9-9960-7441-2 (vol 2)
ISBN: 978-1-4160-5583-9 (set)

Copyright © 2010, 2006, 2001, 1995, 1989, 1979 by Saunders, an affiliate of Elsevier Inc.

All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any
means, electronic or mechanical, including photocopying, recording, or any information storage and retrieval
system, without permission in writing from the publisher. Permissions may be sought directly from Elsevier’s
Rights Department: phone: (+1) 215 239 3804 (US) or (+44) 1865 843830 (UK); fax: (+44) 1865 853333;
e-mail: [email protected]. You may also complete your request on-line via the Elsevier website
at http://www.elsevier.com/permissions.

Notice

Knowledge and best practice in this field are constantly changing. As new research and experience
broaden our knowledge, changes in practice, treatment, and drug therapy may become necessary or
appropriate. Readers are advised to check the most current information provided (i) on procedures
featured or (ii) by the manufacturer of each product to be administered, to verify the recommended dose
or formula, the method and duration of administration, and contraindications. It is the responsibility of
the practitioner, relying on their own experience and knowledge of the patient, to make diagnoses, to
determine dosages and the best treatment for each individual patient, and to take all appropriate safety
precautions. To the fullest extent of the law, neither the Publisher nor the Authors assumes any liability
for any injury and/or damage to persons or property arising out of or related to any use of the material
contained in this book.
The Publisher

Library of Congress Cataloging-in-Publication Data

Endocrinology / senior editors, Leslie J. De Groot, J. Larry Jameson ; section editors, Ashley Grossman …
[et al.].—6th ed.
    p. ; cm.
Includes bibliographical references and index.
ISBN-13: 978-1-4160-5583-9 (v.1 & v.2 : hardback : alk. paper)
ISBN-13: 978-9996074479 (v.1 : hardback : alk. paper)
ISBN-10: 9996074471 (v.1 : hardback : alk. paper)
ISBN-13: 978-9996074417 (v.2 : hardback : alk. paper)
[etc.]
1. Endocrine glands–Diseases. 2. Endocrinology. I. De Groot, Leslie J. II. Jameson, J. Larry.
[DNLM: 1. Endocrine System Diseases. 2. Endocrine Glands. 3. Hormones. WK 140 E5585 2010]
RC648.E458 2010
616.4—dc22
2010001335

Acquisitions Editor: Pamela Hetherington

Developmental Editor: Mary Beth Murphy
Publishing Services Manager: Catherine Jackson
Senior Project Manager: Rachel E. McMullen
Design Direction: Ellen Zanolle

Working together to grow

libraries in developing countries
Printed in China www.elsevier.com | www.bookaid.org | www.sabre.org

Last digit is the print number: 9 8 7 6 5 4 3 2 1

 Contributors
Lloyd Paul Aiello, MD, PhD Lloyd Axelrod, MD Stephen R. Bloom, DSc, FRCP
Director, Beetham Eye Institute, Joslin Diabetes Associate Professor of Medicine Professor
Center Department of Medicine Department of Metabolic Medicine and
Associate Professor of Ophthalmology, Harvard Harvard Medical School; Investigative Sciences
Medical School Physician and Chief of the James Howard Means The Hammersmith Hospital and Imperial College
Department of Ophthalmology, Harvard Medical Firm Medical Services University of London
School Massachusetts General Hospital London, United Kingdom
Joslin Diabetes Center Boston, Massachusetts
Boston, Massachusetts Manfred Blum, MD, FACP
Rebecca S. Bahn, MD Professor of Medicine and Radiology
Erik K. Alexander, MD Professor of Medicine Director, Thyroid Unit
Assistant Professor of Medicine Endocrinology, Diabetes, Metabolism and Nutrition Director, Nuclear Endocrine Laboratory
Department of Medicine Mayo Clinic New York University School of Medicine
Brigham & Women’s Hospital/Harvard Medical Rochester, Minnesota NYU Langone Medical Center
School New York, New York
Boston, Massachusetts H.W.G. Baker, MD, PhD, FRACP
Professor Steen J. Bonnema, MD, PhD
Carolyn A. Allan, MBBS(Hons), PhD, University of Melbourne Department of Obstetrics Associate Professor
DRCOG(UK), FRACP and Gynaecology Department of Endocrinology
Postdoctoral Research Fellow The Royal Women’s Hospital Odense University Hospital
Prince Henry’s Institute; Victoria, Australia Odense, Denmark
Honorary Senior Lecturer
Department of Obstetrics and Gynaecology Randall B. Barnes, MD Diego Botero, MD
Monash University; Associate Professor Attending Physician
Endocrinologist Obstetrics and Gynecology Endocrinology Program
Monash Medical Centre Northwestern University, Feinberg School of Miami Children’s Hospital
Clayton, Victoria, Australia Medicine Miami, Florida
Chicago, Illinois
Bruno Allolio, MD Roger Bouillon, MD, PhD, FRCP
Professor of Medicine Murat Bastepe, MD, PhD Professor of Medicine and Chair of Endocrinology
Deptartment of Endocrinology and Diabetes Assistant Professor of Medicine Experimental Medicine and Endocrinology
Med. Univ. Hospital Endocrine Unit, Department of Medicine Katholieke Universiteit Leuven
University of Wuerzburg Massachusetts General Hospital and Harvard Leuven, Belgium
Wuerzburg, Germany Medical School
Boston, Massachusetts Andrew J.M. Boulton, MD, FRCP
Peter Angelos, MD, PhD, FACS Professor of Medicine
Professor and Chief of Endocrine Surgery John D. Baxter, MD Universities of Manchester, United Kingdom and
The University of Chicago Senior Member, Co-Director Miami, Florida
Chicago, Illinois Diabetes Center Diabetes and Endocrinology
The Methodist Hospital Research Institute; University of Manchester
Sree Appu Chief of Endocrinology Manchester, United Kingdom
Department of Surgery, Monash University The Methodist Hospital
Consultant Urologist Houston, Texas Glenn D. Braunstein, MD
Monash Medical Centre Professor and Chairman, Department of Medicine
Melbourne, Australia Paolo Beck-Peccoz, MD The James R. Klinenberg MD Chair in Medicine
Professor of Endocrinology Cedars-Sinai Medical Center
Richard J. Auchus, MD, PhD Department of Medical Sciences, University of Los Angeles, California
The Charles A. and Elizabeth Ann Sanders Chair in Milan
Translational Research and Professor Fondazione Policlinico IRCCS F. Richard Bringhurst, MD
Internal Medicine, Division of Endocrinology and Milan, Italy Associate Professor of Medicine, Harvard Medical
Metabolism School
The University of Texas Southwestern Medical Graeme I. Bell, PhD Physician, Massachusetts General Hospital
Center at Dallas Louis Block Distinguished Service Professor Senior Vice President for Medicine and Research
Dallas, Texas Departments of Medicine and Human Genetics Management
The University of Chicago Massachusetts General Hospital
Joseph Avruch, MC Chicago, Illinois Boston, Massachusetts
Professor of Medicine
Harvard Medical School; John P. Bilezikian, MD Frank J. Broekmans, MD, PhD
Physician and Chief Professor of Medicine Gynecologist
Diabetes Unit Division of Endocrinology Reproductive Medicine and Gynecology
Member Columbia University University Medical Center Utrecht
Department of Molecular Biology New York, New York Utrecht, The Netherlands
Massachusetts General Hospital
Boston, Massachusetts

v
 Contributors xv

Anne White, PhD Michael P. Whyte, MD Joseph I. Wolfsdorf, MB, BCh

Professor of Endocrine Sciences Professor of Medicine, Pediatrics, and Genetics Clinical Director and Associate Chief
Faculties of Life Sciences and Medical and Human Division of Bone and Mineral Diseases Division of Endocrinology
Sciences Washington University School of Medicine, Children’s Hospital Boston,
University of Manchester Medical-Scientific Director Professor of Pediatrics
Manchester, United Kingdom Center for Metabolic Bone Disease and Molecular Harvard Medical School
Research Boston, Massachusetts
Kenneth E. White, PhD Shriners Hospital for Children
Associate Professor St. Louis, Missouri Bernard Zinman, MD
Department of Medical and Molecular Genetics Director, Leadership Sinai Centre for Diabetes
Indiana University School of Medicine Wilmar M. Wiersinga, MD, PhD, FRCP Mount Sinai Hospital,
Indianapolis, Indiana (London) Professor of Medicine
Professor of Endocrinology University of Toronto
Morris F. White, PhD Department of Endocrinology and Metabolism Toronto, Ontario, Canada
Investigator, Howard Hughes Medical Institute Academic Medical Center
Professor of Pediatrics University of Amsterdam
Division of Endocrinology Amsterdam, The Netherlands
Department of Medicine
Harvard Medical School
Children’s Hospital Boston
Boston, Massachusetts
vi Contributors

Marcello D. Bronstein, MD Robert M. Carey, MD, MACP V. Krishna Chatterjee, MD, FRCP
Professor of Endocrinology David A. Harrison III Distinguished Professor of Professor of Endocrinology
Chief, Neuroendocrine Unit Medicine; Department of Medicine
Division of Endocrinology and Metabolism Dean, Emeritus and University Professor Institute of Metabolic Science
Department of Internal Medicine Division of Endocrinology and Metabolism University of Cambridge
Hospital das Clinicas University of Virginia Health System Cambridge, United Kingdom
University of Sao Paulo Medical School Charlottesville, Virginia
Sao Paulo, Brazil Luca Chiovato, MD, PhD
Esther Carlton, CLS Professor of Endocrinology
Edward M. Brown, MD Project Manager University of Pavia
Professor of Medicine Division of Endocrinology, Clinical Correlations Head, Unit of Internal Medicine and Endocrinology
Diabetes and Hypertension Quest Diagnostics Nichols Institute Fondazione Salvatore Maugeri IRCCS
Department of Medicine San Juan Capistrano, California Pavia, Italy
Brigham & Women’s Hospital
Boston, Massachusetts David Carmody, MB, BCh, BAO, LRCP, SI, Kyung J. Cho, MD
MRCP(UK) Professor
Chuong Bui, MBBS, FRACP, DDU Doctor Department of Radiology
Staff Specialist Department of Endocrinology and Diabetes University of Michigan Medical School
Nuclear Medicine Department Beaumont Hospital Ann Arbor, Michigan
Nepean Hospital Dublin, Ireland
Kingswood, New South Wales, Australia Daniel Christophe, PhD
Jose F. Caro, MD Research Director FNRS and Professor of Molecular
Col. Henry B. Burch, MD Distinguished Professor of Medicine and Vice Chair Biology at the ULB
Chief, Endocrinology for Research, Associate Dean of Clinical Institut de Recherche Interdisciplinaire en Biologie
Walter Reed Army Medical Center; Investigation, Director of the Metabolic Institute Humaine et Moléculaire (IRIBHM)
Professor of Medicine and Chair Department of Medicine Université Libre de Bruxelles (ULB)
Endocrinology Division Uniformed Services Brody School of Medicine, East Carolina University Institut de Biologie et de Médecine Moléculaires
University of the Health Sciences Greenville, North Carolina (IBMM), Charleroi (Gosselies)
Washington, D.C. Brussels, Belgium
Francesco Cavagnini, MD
Henry G. Burger, AO, FAA, MD, FRCP, Professor of Endocrinology Teng-Teng Chung, MBBS, MRCP
FRACP, FCP(SA), FRCOG, FRANZCOG Chair of Endocrinology MRC Clinical Research Fellow
Professor University of Milan; Centre for Endocrinology
Prince Henry’s Institute of Medical Research Chief, Divisione di Medicina Generale ad Indirizzo Barts & the London School of Medicine &
Monash Medical Centre Endocrino-Metabolico, Ospedale Dentistry
Clayton, Victoria, Australia San Luca, Istituto Auxologico Italiano London, United Kingdom
Milan, Italy
Richard O. Burney, MD, MSc John A. Cidlowski, PhD
Chief, Division of Reproductive Endocrinology and Jerry Cavallerano, OD, PhD Chief Laboratory of Signal Transduction
Infertility Director Associate Professor National Institute of Environmental Health
Translational Research Program Department of Ophthalmology Sciences, NIH
Department of Obstetrics and Gynecology Madigan Harvard Medical School; Research Triangle Park, North Carolina
Army Medical Center Staff Optometrist
Tacoma, Washington Beetham Eye Institute Adrian J.L. Clark, DSc, FRCP
Joslin Diabetes Center Professor of Medicine
John B. Buse, MD, PhD Boston, Massachusetts Endocrinology
Chief, Division of Endocrinology Barts & the London School of Medicine &
Department of Medicine Luigi M. Cavallo, MD, PhD Dentistry
University of North Carolina School of Medicine Department of Neurological Sciences London, United Kingdom
Chapel Hill, North Carolina Division of Neurosurgery
Università degli Studi di Napoli Federico II Peter E. Clark
Peter C. Butler, MD Naples, Italy Assistant Professor of Urologic Surgery
Doctor Department of Urologic Surgery
Larry Hillblom Islet Research Shu Jin Chan, PhD The Vanderbilt-Ingram Cancer Center
University of California Los Angeles Research Professional Associate Nashville, Tennessee
Los Angeles, California Department of Medicine
The University of Chicago David R. Clemmons, MD
Paolo Cappabianca, MD Chicago, Illinois Director Diabetes Center for Excellence Kenan
Professor and Chairman of Neurological Surgery Professor of Medicine
Department of Neurosurgery R. Jeffrey Chang, MD Department of Medicine
Università degli Studi di Napoli Federico II Professor University of North Carolina School of Medicine
Naples, Italy Department of Reproductive Medicine Chapel Hill, North Carolina
University of California San Diego, School of
Maria Luiza Avancini Caramori, MD, PhD Medicine Robert V. Considine, PhD
Assistant Professor La Jolla, California Associate Professor
Division of Endocrinology and Diabetes Department of Medicine/Division of Endocrinology
Department of Medicine and Pediatrics Roland D. Chapurlat, MD, PhD Indiana University School of Medicine
University of Minnesota Professor of Rheumatology; Indianapolis, Indiana
Minneapolis, Minnesota Head, Division of Rheumatology;
Director, INSERM Research Unit 831;
Director, National Reference Center for Fibrous
Dysplasia of Bone
Lyon, France
 Contributors vii

Georges Copinschi, MD, PhD Leslie J. De Groot, MD Daniel J. Drucker, MD

Professor Emeritus of Endocrinology Research Professor Professor
Laboratory of Physiology Cellular and Life Sciences Department of Medicine
Faculty of Medicine, Université Libre de Bruxelles; University of Rhode Island, Providence Campus Samuel Lunenfeld Research Institute, Mt. Sinai
Formerly Chief Providence, Rhode Island Hospital, University of Toronto
Division of Endocrinology, Hôpital Universitaire Toronto, Ontario, Canada
Saint-Pierre; David de Kretser, AO, FAA, FTSE, MD,
Formerly Chairman FRACP Michael J. Econs, MD
Department of Medicine, Hôpital Universitaire Emeritus Professor Glenn W. Irwin, Jr. Professor of Endocrinology and
Saint-Pierre Monash Institute of Medical Research Metabolism
Brussels, Belgium Monash University Director, Division of Endocrinology and
Clayton, Melbourne, Victoria, Australia Metabolism
Kyle D. Copps, PhD Professor of Medicine and Medical and Molecular
Department of Endocrinology Ahmed J. Delli, MD, MPH Genetics
Children’s Hospital Medical Doctor Indiana University School of Medicine
Boston, Massachusetts Department of Clinical Sciences/Diabetes and Indianapolis, Indiana
Celiac Disease Unit
C. Hamish Courtney, MD, FRCP Clinical Research Center/Lund University David A. Ehrmann, MD
Consultant Endocrinologist Malmö, Skåne, Sweden Professor
Regional Center for Endocrinology and Diabetes Department of Medicine/Section of Endocrinology,
Royal Victoria Hospital Pierre D. Delmas, MD, PhD† Diabetes, and Metabolism
Belfast, United Kingdom Professor of Medicine The University of Chicago
Claude Bernard University of Lyon; Chicago, Illinois
Leona Cuttler, MD Chief of Department, Rheumatology
William T. Dahms Professor of Pediatric Hôpital E. Herriot; Graeme Eisenhofer, PhD
Endocrinology Chief Director, Research Unit (Pathophysiology of Professor and Chief
Division of Pediatric Endocrinology, Diabetes, and Osteoporosis) INSERM Division of Clinical Neurochemistry
Metabolism Lyon, France; Institute of Clinical Chemistry and Laboratory
Director, The Center for Child Health and Policy at President, International Osteoporosis Foundation Medicine and Department of Medicine
Rainbow Nyon, Switzerland Universitätsklinikum Carl Gustav Carus Dresden
Rainbow Babies and Children’s Hospital Case Dresden, Germany
Western Reserve University Marie B. Demay, MD
Cleveland, Ohio Professor of Medicine Gregory F. Erickson, PhD
Massachusetts General Hospital Professor Emeritus
Melita L. Daley, MD Harvard Medical School Department of Reproductive Medicine
Assistant Professor Boston, Massachusetts University of California, San Diego
Department of Psychiatry LaJolla, California
UCLA Semel Institute Paul Devroey, MD, PhD
Los Angeles, California Professor Barbro Eriksson, MD, PhD
Centre for Reproductive Medicine Professor
Mehul Dattani, FRCP, FRCPCH, MD UZ Brussel Department of Endocrine Oncology
Professor of Paediatric Endocrinology Brussels, Belgium Uppsala University Hospital
Developmental Endocrinology Research Group, Uppsala, Sweden
Clinical and Molecular Genetics Unit Roberto Di Lauro, MD
UCL Institute of Child Health London Full Professor of Medical Genetics Eric Espiner, MBChB, MD, FRACP, FRS
London, United Kingdom Department of Cellular and Molecular Biology and (NZ)
Pathology Professor
Stephen N. Davis, MBBS, FRCP, FACP, University of Naples “Federico II” Department of Medicine
FACE Naples, Italy Christchurch School of Medicine and Health
Theodore Woodward Professor and Chairman Sciences
Department of Medicine Sean F. Dinneen, MD, FRCPI, FACP Christchurch, New Zealand
University of Maryland Medical School and Senior Lecturer in Medicine and Consultant
Medical Center Endocrinologist Felice Esposito, MD, PhD, FACS
Baltimore, Maryland Department of Medicine Department of Neurological Sciences
NUI Galway and Galway University Hospitals Division of Neurosurgery
Oreste de Divitiis, MD Galway, Ireland Università degli Studi di Napoli Federico II
Associate Professor Naples, Italy
Department of Neurological Science, Institute of Jacques E. Dumont, MD, PhD
Neurosurgery Honorary Professor Victoria Esser, PhD
Università degli Studi di Napoli Federico II Iribhm Associate Professor, Internal Medicine
Naples, Italy University of Brussels University of Texas Southwestern Medical Center
Brussels, Belgium at Dallas
Mario De Felice, MD Dallas, Texas
Professor of Pathology Kathleen M. Dungan, MD
Department of Cellular and Molecular Biology and Assistant Professor of Medicine Erica A. Eugster, MD
Pathology Division of Endocrinology, Diabetes, and Professor of Pediatrics
University of Naples “Federico II”; Metabolism Section of Pediatric Endocrinology, Department of
Scientific Coordinator Ohio State University Pediatrics
Biogem Columbus, Ohio Riley Hospital for Children, Indiana University
Ariano Irpino, Italy School of Medicine
Indianapolis, Indiana
Ralph A. DeFronzo, MD
Professor of Medicine/Chief, Diabetes Division
Department of Medicine
University of Texas Health Science Center
San Antonio, Texas
†Deceased.
viii Contributors

Sadaf Farooqi, PhD, FRCP Mark Frydenberg, MBBS, FRACS Harry K. Genant, MD
Wellcome Trust Senior Clinical Fellow Clinical Director Professor, Emeritus
University of Cambridge Metabolic Research Centre for Urological Research Radiology, Medicine and Orthopaedic Surgery;
Laboratories Monash University Executive Director, Osteoporosis and Arthritis
Institute of Metabolic Science Clayton, Victoria, Australia; Research Group
Cambridge, United Kingdom Chairman Department of Radiology
Department of Urology University of California, San Francisco;
Martin Fassnacht, MD Monash Medical Centre Chairman, Emeritus and Member, Board of
Max Eder Senior Research Fellow Melbourne, Australia; Directors
Consultant Endocrinologist Australian Urology Associates Synarc, Inc.
Professor for Medicine Malvern, Victoria, Australia San Francisco, California
Department of Internal Medicine I, Endocrine and
Diabetes Unit Peter Fuller, BMedSCI, MBBS, PhD, FRACP Michael S. German, MD
University Hospital of Würzburg NHRMC Senior Principal Research Fellow, Professor, Clinical Director UCSF Diabetes Center
Würzburg, Germany Associate Director Department of Medicine
NHMRC Senior Principal Research Fellow University of California San Francisco
Bart C.J.M. Fauser, MD, PhD Associate Director, Prince Henry’s Institute of San Francisco, California
Professor of Reproductive Medicine Medical Research
Reproductive Medicine and Gynecology Director, Endocrinology Unit, Southern Health Mohammad A. Ghatei, PhD
University Medical Center Utrecht Adjunct Professor in Medicine and Biochemistry Professor
Utrecht, The Netherlands and Molecular Biology Department of Metabolic Medicine and
Monash University Investigative Sciences
Gianfranco Fenzi, MD, PhD Clayton, Victoria, Australia The Hammersmith Hospital and Imperial College
Professor of Endocrinology University of London
Dipartimento di Endocrinologia e Oncologia Robert F. Gagel, MD London, United Kingdom
Clinica Head, Division of Internal Medicine;
Università di Napoli “Federico II” University of Texas Linda C. Giudice, MD, PhD, MSc
Napoli, Italy MD Anderson Cancer Center Professor and Chair, The Robert B. Jaffe, MD
Houston, Texas Endowed Professor in the Reproductive Sciences
Ele Ferrannini, MD Obstetrics, Gynecology and Reproductive Sciences
Professor of Medicine Jason L. Gaglia, MD University of California, San Francisco
Department of Internal Medicine Instructor in Pathology San Francisco, California
University of Pisa School of Medicine Harvard Medical School;
Pisa, Italy Physician Anna Glasier, BSc, MD, DSc
Department of Endocrinology (Professor) Lead Clinican for Sexual Health NHS
David M. Findlay, PhD Harvard Vanguard Medical Associates; Lothian and Honorary Professor Universities of
Professor of Orthopaedic Research Physician, Adult Diabetes Edinburgh and London
Department of Orthopaedics and Trauma Joslin Diabetes Center Family Planning Service
University of Adelaide Boston, Massachusetts NHS Lothian
Adelaide, South Australia, Australia Edinburgh, Scotland
Gianluigi Galizia, MD
Courtney Finlayson, MD Clinical Research Fellow Francis H. Glorieux, MD, PhD
Instructor, Pediatrics Neurovascular and Autonomic Medicine Professor
Division of Pediatrics Department Departments of Surgery, Pediatrics, and Human
Harvard Medical School Faculty of Medicine, Imperial College London at Genetics
Children’s Hospital Boston St Mary’s Hospital McGill University, and Shriners Hospital for
Boston, Massachusetts London, United Kingdom Children
Montreal, Québec, Canada
Delbert A. Fisher, MD Chuanyun Gao, MD
Professor of Pediatrics and Medicine Fellow, Endocrinology Javier González-Maeso, PhD
David Geffen School of Medicine at University of Division of Endocrinology, Diabetes and Assistant Professor
California Los Angeles Metabolism Departments of Psychiatry and Neurology
Los Angeles, California Beth Israel Deaconess Medical Center, Harvard Mount Sinai School of Medicine
Medical School New York, New York
Maguelone G. Forest, MD, PhD Boston, Massachusetts
Professor Emeritus at INSERM Louis J. Gooren, MD, PhD
Pediatric Endocrinology Thomas J. Gardella, PhD Emeritus Professor of Endocrinology
Hôpital Femme-Mère-Enfant Associate Professor in Medicine Department of Endocrinology
Lyon/Bron, France Department of Medicine, Endocrinology Unit VU Medical Center
Massachusetts General Hospital and Harvard Amsterdam, The Netherlands
Daniel W. Foster, MD, MACP Medical School
John Denis McGarry, Ph.D. Distinguished Chair in Boston, Massachusetts David F. Gordon, PhD
Diabetes and Metabolic Research Associate Professor
Department of Internal Medicine Bruce D. Gaylinn, PhD Department of Medicine/Endocrinology
The University of Texas Southwestern Medical Research Assistant Professor University of Colorado Medical School
School Department of Medicine, Division of Endocrinology Aurora, Colorado
Dallas, Texas University of Virginia
Charlottesville, Virginia Karen A. Gregerson, PhD
Mason Wright Freeman, MD Associate Professor of Physiology
Professor of Medicine Division of Pharmaceutical Sciences
Chief of the Lipid Metabolism Unit James L. Winkle College of Pharmacy
Department of Medicine and Center for University of Cincinnati
Computational and Integrative Biology Cincinnati, Ohio
Massachusetts General Hospital, Harvard Medical
School
Boston, Massachusetts
 Contributors ix

Milton D. Gross, MD Matthias Hebrok, PhD Hero K. Hussain, MBChB, FRCR

Professor, Division of Nuclear Medicine Professor Associate Professor
Department of Radiology Hurlbut-Johnson Distinguished Professor in MRI/Abdominal Division
University of Michigan Diabetes Research Associate Director Research, Department of Radiology
Ann Arbor, Michigan UCSF Diabetes Center Department of Medicine University of Michigan
San Francisco, California Ann Arbor, Michigan
Ashley Grossman, BA, BSc, MD, FRCP,
FMedSci Laszlo Hegedüs, MD, PhD, DMSc Peter Illingworth, MB, MD(Hon),
Professor of Neuroendocrinology Professor, University of Southern Denmark in FRANZCOG
Endocrinology Odense Associate Professor, Obstetrics and Gynaecology
St. Bartholomew’s Hospital Department of Endocrinology and Metabolism University of Sydney;
London, United Kingdom Odense University Hospital, and University of Director of Reproductive Medicine
Southern Denmark Westmead Hospital
Valéria C. Guimarães, MD, PhD Odense, Denmark Sydney, New South Wales, Australia
Clinical Endocrinologist
Endocrinology Georg Hennemann, MD, PhD, FRCP, J. Larry Jameson, MD, PhD
ENNE FRCPE Professor of Medicine, Dean
Brasília-DF, Brazil Professor of Medicine and Endocrinology Northwestern University Feinberg School of
Department of Internal Medicine Medicine
Mark Gurnell, PhD, FRCP Medical Center Spijkenisse Northwestern University
University Lecturer in Endocrinology The Hague, The Netherlands Chicago, Illinois
Institute of Metabolic Science and Department of
Medicine Maria K. Herndon, PhD Nathalie Josso, MD, PhD
University of Cambridge Postdoctoral Research Associate Research Director
Cambridge, United Kingdom School of Molecular Biosciences Unité de Recherches sur l’Endocrinologie et
Washington State University la Génétique de la Reproduction et du
Nadine Haddad, MD Pullman, Washington Développement
Associate Professor of Pediatrics INSERM
Pediatrics, Section of Pediatric Endocrinology and Peter Hindmarsh, BSC, MD, FRCP, Clamart, France
Diabetology FRCPCH
Indiana University School of Medicine, Riley Professor of Paediatric Endocrinology Harald Jüppner, MD
Hospital for Children Developmental Endocrinology Research Group Professor of Pediatrics
Indianapolis, Indiana University College London, Institute of Child Endocrine Unit and Pediatric Nephrology Unit
Health Massachusetts General Hospital and Harvard
Daniel J. Haisenleder, PhD London, United Kingdom Medical School
Associate Professor Boston, Massachusetts
Department of Medicine Ken K.Y. Ho, MD
University of Virginia Professor of Medicine Jeffrey Kalish, MD
Charlottesville, Virginia Head, Department of Endocrinology, St. Vincent’s Assistant Professor of Surgery
Hospital Section of Vascular and Endovascular Surgery
David J. Handelsman, MB, BS, FRACP, Head, Pituitary Research Unit, Garvan Institute of Boston Medical Center
PhD Medical Research Boston, Massachusetts
Professor of Reproductive Endocrinology and Sydney, New South Wales, Australia
Andrology Edwin L. Kaplan, MD
Director, ANZAC Research Institute, Nelson D. Horseman, PhD Professor of Surgery, Section of General Surgery
University of Sydney Professor Department of Surgery
Head, Department of Andrology, Department of Molecular and Cellular Physiology The University of Chicago
Concord Hospital University of Cincinnati Chicago, Illinois
Sydney, Australia Cincinnati, Ohio
Jeffrey B. Kerr, PhD
John B. Hanks, MD Mara J. Horwitz, MD Associate Professor
C Bruce Morton Professor Chief, Division of Assistant Professor of Medicine Anatomy and Developmental Biology
General Surgery Department of Medicine, Division of Endocrinology Faculty of Medicine, Monash University
Department of Surgery University of Pittsburgh Melbourne, Victoria, Australia
University of Virginia Health System Pittsburgh, Pennsylvania
Charlottesville, Virginia Ronald Klein, MD, MPH
Mimi Hu, MD Professor
Mark John Hannon, MD, MRCPI Assistant Professor of Medicine Department of Ophthalmology and Visual Sciences
Doctor Department of Endocrine Neoplasia and Hormonal University of Wisconsin School of Medicine and
Academic Department of Endocrinology Disorders Public Health
Beaumont Hospital/RCSI Medical School University of Texas M.D. Anderson Cancer Center Madison, Wisconsin
Dublin, Ireland Houston, Texas
Meyer Knobel, MD
Simon W. Hayward, PhD Ieuan A. Hughes, MA, MD, FRCP, FRCP(C), Associate Professor of Endocrinology, Thyroid Unit
Associate Professor of Urologic Surgery and Cancer FRCPCH, F Med Sci Division of Endocrinology, Department of Internal
Biology Professor of Paedaitrics, University of Cambridge; Medicine
Department of Urologic Surgery and Department of Honorary Consultant Paediatrician, Cambridge University of São Paulo Medical School
Cancer Biology University Hospitals NHS Foundation Trust São Paulo, SP, Brazil
Vanderbilt University Medical Center Cambridge, United Kingdom
Nashville, Tennessee Efstratios Kolibianakis, MD, MSc, PhD
Christopher J. Hupfeld, MD Professor
Private Physician Unit for Human Reproduction, 1st Department of
Endocrinology and Metabolism Obstetrics and Gynaecology
Oceanside, California Aristotle University of Thessaloniki
Thessaloniki, Greece
x Contributors

John J. Kopchick, PhD Harold E. Lebovitz, MD, FACE Carl D. Malchoff, MD, PhD
Goll-Ohio Professor of Molecular Biology Professor of Medicine Professor of Medicine
Edison Biotechnology Institute and Department of State University of New York Health Science Division of Endocrinology and Metabolism and
Biomedical Sciences Center at Brooklyn Neag Comprehensive Cancer Center
Ohio University Brooklyn, New York University of Connecticut Health Center
Athens, Ohio Farmington, Connecticut
Paul Lee, MBBS, FRACP
Peter Kopp, MD Endocrine Fellow Diana Mark Malchoff, PhD
Associate Professor Department of Endocrinology Chair
Director ad interim Center for Genetic Medicine St. Vincent’s Hospital and Garvan Institute of Department of Science
Division of Endocrinology, Metabolism and Medical Research Avon Old Farms School
Molecular Medicine Sydney, Australia Avon, Connecticut
Feinberg School of Medicine
Northwestern University Åke Lernmark, PhD Rayaz A. Malik, MBChB, FRCP, PhD
Chicago, Illinois Professor Professor of Medicine
Clinical Sciences Department of Cardiovascular Medicine
Márta Korbonits, MD, PhD Lund University/CRC, University Hospital MAS Central Manchester Foundation Trust and
Professor of Endocrinology and Metabolism Malmö, Sweden University of Manchester
William Harvey Research Institute Manchester, United Kingdom
Barts and London School of Medicine and Laura J. Lewis-Tuffin, PhD
Dentistry Intramural Research Associate Susan J. Mandel, MD, MPH
London, United Kingdom Department of Laboratory of Signal Transduction Professor of Medicine and Radiology
National Institute of Environmental Health Division of Endocrinology, Diabetes, and
Melvyn Korobkin, MD Sciences, NIH, HHS Metabolism
Professor of Radiology Research Triangle Park, North Carolina; University of Pennsylvania School of Medicine
University of Michigan Senior Research Fellow Philadelphia, Pennsylvania
Ann Arbor, Michigan Department of Cancer Biology
Mayo Clinic Christos Mantzoros, MD, DSc
Stephen M. Krane, MD Jacksonville, Florida Associate Professor
Persis, Cyrus and Marlow B. Harrison Internal Medicine
Distinguished Professor of Clinical Medicine Zhi-Liang Lu, PhD Harvard Medical School and Harvard School of
Harvard Medical School; Programme Leader Public Health
Center for Immunology and Inflammatory Diseases MRC Human Reproductive Sciences Unit Boston, Massachusetts
Massachusetts General Hospital The Queen’s Medical Research Institute
Boston, Massachusetts Edinburgh, Scotland, United Kingdom Eleftheria Maratos-Flier, MD
Associate Professor
Knut Krohn, PhD Paolo Emidio Macchia, MD, PhD Department of Medicine
Head of DNA Technologies Assistant Professor Harvard Medical School Beth Israel Deaconess
IZKF Leipzig Dipartimento di Endocrinologia ed Oncologia Medical Center
University of Leipzig, Medical Faculty Molecolare e Clinica Boston, Massachusetts
Leipzig, Germany Università degli Studi di Napoli “Federico II”
Napoli, Italy Stefania Marchisotta, MD
Henry M. Kronenberg, MD Post-Doc in Endocrinology
Chief, Endocrine Unit and Professor of Medicine Noel K. Maclaren, MD Internal Medicine, Endocrinology and Metabolism
Department of Medicine Director and Biochemistry
Massachusetts General Hospital and Harvard BioSeek Endocrine Clinic University of Siena
Medical School New York, New York; Siena, Italy
Boston, Massachusetts Clinical Professor of Endocrinology
Weill Cornell College of Medicine Michele Marinò, MD
John M. Kyriakis, PhD Manhattan, New York Assistant Professor of Endocrinology
Investigator Department of Endocrinology and Metabolism
Molecular Cardiology Research Institute Carine Maenhaut, PhD University of Pisa
Professor of Medicine Assistant Professor Pisa, Italy
Tufts University School of Medicine Institute of Interdisciplinary Research (IRIBHM)
Boston, Massachusetts Faculty of Medicine John C. Marshall, MD, PhD
Free University of Brussels Andrew D. Hart Professor of Internal Medicine
Sue Lynn Lau, MBBS(Hons), FRACP Brussels, Belgium Director Center for Research in Reproduction
Research Fellow Department of Medicine
Diabetes and Transcription Factors Laboratory Christa Maes, PhD University of Virginia School of Medicine
Group Senior Postdoctoral Fellow Charlottesville, Virginia
Garvan Institute of Medical Research Department of Experimental Medicine
Sydney, New South Wales, Australia K.U. Leuven Thomas F.J. Martin, PhD
Leuven, Belgium Wasson Professor of Biochemistry
John H. Lazarus, MD, FRCP, FACE, FRCOG Department of Biochemistry
Professor of Clinical Endocrinology Katharina M. Main, MD University of Wisconsin
Centre for Endocrine and Diabetes Sciences Clinical Associate Research Professor, Consultant in Madison, Wisconsin
Cardiff School of Medicine Paediatric Endocrinology
Cardiff, Wales, United Kingdom Department of Growth and Reproduction T. John Martin, MD, DSc
Rigshospitalet and University of Copenhagen, Professor of Medicine
Diana L. Learoyd, MBBS, PhD, FRACP Faculty of Health Sciences St Vincent’s Institute
Associate Professor Copenhagen, Denmark University of Melbourne
Department of Endocrinology Melbourne, Victoria, Australia
Royal North Shore Hospital and Sydney Medical
School
University of Sydney
St. Leonards, New South Wales, Australia
 Contributors xi

Gabriel Á. Martos-Moreno, MD, PhD Boyd E. Metzger, MD David M. Nathan, MD

Pediatrician Tom D. Spies Professor of Metabolism and Director, Diabetes Center and Clinical Research
Assistant Professor of Pediatrics Nutrition Center
Edison Biotechnology Institute Medicine Massachusetts General Hospital
Ohio University; Northwestern University Feinberg School of Professor of Medicine
Department of Pediatric Endocrinology Medicine Harvard Medical School
Hospital Infantil Universitario Niño Jesús; Chicago, Illinois Boston, Massachusetts
Department of Pediatrics
Universidad Autónoma de Madrid; Robert Millar, PhD Maria I. New, MD
CIBERobn Professor Professor of Pediatrics
Instituto de Salud Carlos III MRC Human Reproductive Sciences Unit Professor of Genetics and Genomic Sciences
Madrid, Spain Edinburgh University Director, Adrenal Steroid Disorders Program
Edinburgh, Scotland Department of Pediatrics
Christopher J. Mathias, DPhil, DSc, FRCP, Mount Sinai School of Medicine
FMedSci Walter L. Miller, MD New York, New York
Professor Distinguished Professor of Pediatrics
Neurovascular and Autonomic Medicine Unit, Chief of Endocrinology Carolyn Nguyen, MD
Faculty of Medicine University of California San Francisco Fellow in Child and Adolescent Psychiatry
Imperial College London at St Mary’s Hospital San Francisco, California UCLA Semel Institute for Neuroscience and
London and Autonomic Unit Human Behavior
National Hospital for Neurology and Neurosurgery Madhusmita Misra, MD, MPH Los Angeles, California
Queen Square, Institute of Neurology Assistant Professor of Pediatrics, Harvard Medical
University College School Lynnette K. Nieman, MD
London, United Kingdom Pediatrics Senior Investigator
MassGeneral Hospital for Children and Harvard Intramural Research Program on Reproductive and
Michael Mauer, MD Medical School Adult Endocrinology
Professor Boston, Massachusetts The Eunice Kennedy Shriver National Institute of
Division of Pediatric Nephrology Child Health and Human Development
Department of Pediatrics and Medicine Mark E. Molitch, MD (NICHD), National Institutes of Health
University of Minnesota Professor of Medicine Bethesda, Maryland
Minneapolis, Minnesota Division of Endocrinology, Metabolism and
Molecular Medicine, Department of Medicine John H. Nilson, PhD
Elizabeth A. McGee, MD Northwestern University Feinberg School of Edward R. Meyer Distinguished Professor, Director,
Associate Professor, Medicine School of Molecular Biosciences
Director Division of Reproductive Endocrinology Chicago, Illinois School of Molecular Biosciences
Department of Obstetrics and Gynecology Washington State University
Virginia Commonwealth University David D. Moore, PhD Pullman, Washington
Richmond, Virginia Professor
Molecular and Cellular Biology Jeffrey A. Norton, MD
Neil J. McKenna, PhD Baylor College of Medicine Professor of Surgery
Department of Molecular and Cellular Biology and Houston, Texas Stanford University
Nuclear Receptor Signaling Atlas (NURSA) Stanford, California
Bioinformatics Resource Damian G. Morris, MBBS, PhD, FRCP
Baylor College of Medicine Department of Diabetes and Endocrinology Robert H. Oakley, PhD
Houston, Texas The Ipswich Hospital Laboratory of Signal Transduction
Ipswich, Suffolk, United Kingdom National Institute of Environmental Health
Robert I. McLachlan, MD, PhD Sciences
Professor, Obstetrics and Gynecology Allan U. Munck, PhD National Institutes of Health, Department of Health
Monash University; Emeritus Professor of Physiology and Human Services
Deputy Director, Endocrinology Department of Physiology Research Triangle Park, North Carolina
Monash Medical Centre; Dartmouth Medical School
Director of Clinical Research Lebanon, New Hampshire Kjell Öberg, MD, PhD
Prince Henry’s Institute of Medical Research Professor of Endocrine Oncology
Clayton, Victoria, Australia Jon Nakamoto, MD, PhD Chairman Center of Excellence Endocrine Tumors
Laboratory Medical Director Department of Endocrine Oncology
Geraldo Medeiros-Neto, MD, MACP Quest Diagnostics Nichols Institute Uppsala University, Uppsala University Hospital
Senior Professor of Endocrinology, Thyroid Unit San Juan Capistrano, California; Uppsala, Sweden
Division of Endocrinology, Department of Internal Associate Professor (Voluntary) of Pediatrics and
Medicine Endocrinology Jerrold M. Olefsky, MD
University of São Paulo Medical School University of California, San Diego Professor of Medicine
São Paulo, Brazil San Diego, California Department of Medicine/Endocrinology and
Metabolism
Juris J. Meier, MD Anikó Náray-Fejes-Tóth, MD University of California, San Diego
Assistant Professor Professor of Physiology La Jolla, California
Department of Medicine I Department of Physiology
St. Josef-Hospital, Ruhr-University Dartmouth Medical School Stephen O’Rahilly, MD
Bochum, Germany Lebanon, New Hampshire Professor of Clinical Biochemistry and Medicine
University of Cambridge Metabolic Research
Shlomo Melmed, MD Ralf Nass, MD Laboratories
Senior Vice President, Academic Affairs and Dean Research Assistant Professor Institute of Metabolic Science
of the Faculty Division of Endocrinology and Metabolism Addenbrooke’s Hospital
Cedars Sinai Medical Center University of Virginia Cambridge, United Kingdom
Los Angeles, California Charlottesville, Virginia
xii Contributors

Umut Ozcan, MD Aldo Pinchera, MD Samuel Refetoff, MD

Assistant Professor Professor of Endocrinology Frederick H. Rawson Professor in Medicine
Medicine/Endocrinology University of Pisa, Medicine, Pediatrics, and Genetics
Children’s Hospital Boston, Harvard Medical Chief, Division of Endocrinology The University of Chicago
School University Hospital of Pisa Chicago, Illinois
Boston, Massachusetts Pisa, Italy
Ravi Retnakaran, MD, MSc, FRCPC
Karel Pacak, MD, PhD, DSc Frank B. Pomposelli, MD Assistant Professor and Clinician-Scientist
Professor of Medicine Chief, Division of Vascular and Endovascular Department of Medicine, Division of Endocrinology
Senior Investigator Surgery University of Toronto;
Chief, Section on Medical Neuroendocrinology The CardioVascular Institute Leadership Sinai Centre for Diabetes
NICHD Beth Israel Deaconess Medical Center Mount Sinai Hospital
NIH Boston, Massachusetts Toronto, Ontario, Canada
Bethesda, Maryland
John T. Potts, Jr, MD Rodolfo A. Rey, MD, PhD
Furio Pacini, MD Jackson Distinguished Professor of Clinical Researcher with the National Research Council
Professor of Endocrinology and Metabolism Medicine (CONICET)
Department of Internal Medicine, Endocrinology Harvard Medical School; Centro de Investigaciones Endocrinológicas
and Metabolism and Biochemistry Director of Research and Physician-in-Chief (CEDIE)
University of Siena Emeritus Hospital de Niños Ricardo Gutiérrez;
Siena, Italy Department of Medicine Professor
Massachusetts General Hospital Histology, Cell Biology, Embryology and Genetics
Shetal H. Padia, MD Boston, Massachusetts School of Medicine, University of Buenos Aires
Division of Endocrinology and Metabolism, Buenos Aires, Argentina
Department of Medicine Charmian A. Quigley, MBBS
University of Virginia School of Medicine Senior Clinical Research Physician Christopher J. Rhodes, PhD
Charlottesville, Virginia Department of Endocrinology Professor
Lilly Research Laboratories Department of Medicine
Ralf Paschke, MD, DMsc Eli Lilly and Company Sections of Endocrinology, Diabetes, and
Professor Indianapolis, Indiana Metabolism
Medical Department The University of Chicago
Leipzig University Marcus Quinkler, MD Kovler Diabetes Center
Leipzig, Germany Doctor Chicago, Illinois
Department of Clinical Endocrinology
Adam Pawson, PhD Charité Campus Mitte E. Chester Ridgway, MD, MACP
Human Reproductive Sciences Unit Charité University Medícine Berlin Frederic Hamilton Professor of Medicine, Senior
Medical Research Council Berlin, Germany Associate Dean for Academic Affairs, Vice Chair
Edinburgh, Scotland, United Kingdom Department of Medicine
Christine Campion Quirk, PhD University of Colorado Denver School of Medicine
Alison C. Peck, MD Human Biology Program Aurora, Colorado
Clinical Practice Indiana University
The Fertility Institutes Bloomington, Indiana Gail P. Risbridger, PhD
Encino, California Associate Dean, Research Centres and Institutes
Miriam T. Rademaker, PhD Director
Francesca Pecori Giraldi, MD Associate Professor Centre for Urological Research
University Researcher Department of Medicine Monash University
University of Milan Divisione di Medicina Generale Christchurch School of Medicine Clayton
ad Indirizzo Endocrino-Metabolico, Ospedale Christchurch, New Zealand Melbourne, Victoria, Australia
San Luca,
Istituto Auxologico Italiano Ewa Rajpert-De Meyts, MD, DMSc Robert A. Rizza, MD
Milan, Italy Senior Scientist Executive Dean for Research,
Department of Growth and Reproduction Earl and Annette R McDonough Professor of
Luca Persani, MD, PhD Copenhagen University Hospital (Rigshospitalet) Medicine
Associate Professor of Endocrinology Copenhagen, Denmark Division of Endocrinology, Diabetes and Nutrition
Dipartimento di Scienze Mediche, Istituto Department of Internal Medicine
Auxologico Italiano Eric Ravussin, PhD Mayo Clinic
Università degli Studi di Milano Professor Rochester, Minnesota
Milan, Italy Nutrition Obesity Research Center, Director
Pennington Biomedical Research Center Bruce Robinson, MD, MSc, FRACP
Richard L. Phelps, MD Baton Rouge, Louisiana Professor and Dean
Assistant Clinical Professor of Medicine Sydney Medical School
Northwestern University Feinberg School of David W. Ray, MB, ChB, FRCP, PhD University of Sydney
Medicine Professor of Medicine and Endocrinology Sydney, New South Wales, Australia
Chicago, Illinois School of Medicine
University of Manchester, and Manchester Pierre P. Roger, PhD
Louis H. Philipson, MD, PhD Biomedical Research Centre Senior Research Associate
Professor Manchester, United Kingdom Institute of Interdisciplinary Research (IRIBHM)
Departments of Medicine and Pediatrics Université Libre de Bruxelles
The University of Chicago Nancy King Reame, MSN, PhD, FAAN Brussels, Belgium
Chicago, Illinois Mary Dickey Lindsay Professor of Nursing
Irving Institute for Clinical and Translational Michael G. Rosenfeld, MD
Kevin Phillips, PhD Research HHMI, Department of School of Medicine
Research Scientist Columbia University UCSD
Diabetes Research Center New York, New York La Jolla, California
The Methodist Hospital Research Institute
Houston, Texas
 Contributors xiii

Robert L. Rosenfield, MD Richard J. Santen, MD Carolyn L. Smith, PhD

Professor of Pediatrics and Medicine Professor of Medicine Associate Professor
Section of Adult and Pediatric Endocrinology, Department of Internal Medicine Division of Molecular and Cellular Biology
Diabetes, and Metabolism Endocrinology and Metabolism Baylor College of Medicine
The University of Chicago Pritzker School of University of Virginia Houston, Texas
Medicine Charlottesville, Virginia
Chicago, Illinois Philip W. Smith, MD
Nanette Santoro, MD Chief Resident
James H. Rosing, MD Professor and Director Department of Surgery
Chief Resident Division of REI University of Virginia
General Surgery Albert Einstein College of Medicine/Montefiore Charlottesville, Virginia
Stanford University Hospital and Clinics Medical Center
Stanford, California Bronx, New York Roger Smith, MB, BS, PhD, FRACP,
FRANZCOG
Peter Rossing, MD, DMSc Virginia D. Sarapura, MD Professor of Endocrinology
Manager of Research, Chief Physician Associate Professor of Medicine Director, Mothers and Babies Research Centre
Steno Diabetes Center Department of Medicine, Division of Endocrinology University of Newcastle
Gentofte, Denmark University of Colorado Health Sciences Center Newcastle, New South Wales, Australia
Aurora, Colorado
Robert T. Rubin, MD, PhD Steven R. Smith, MD
Chief, Department of Psychiatry Stuart C. Sealfon, MD Scientific Director
VA Greater Los Angeles Healthcare System, Professor and Chairman Translational Research Institute
Distinguished Professor and Vice Chair Neurology Florida Hospital/Burnham Institute for Medical
Department of Psychiatry and Biobehavioral Mount Sinai School of Medicine Research
Sciences New York, New York Orlando, Florida
David Geffen School of Medicine at UCLA
Los Angeles, California Patrick M. Sexton, BSc(Hons), PhD Peter J. Snyder, MD
NHMRC Principal Research Fellow Professor of Medicine, University of Pennsylvania
Neil Ruderman, MD, DPhil Professor of Pharmacology School of Medicine
Professor of Medicine, Physiology, and Biophysics Monash Institute of Pharmaceutical Sciences Department of Medicine
Boston University School of Medicine Department of Pharmacology University of Pennsylvania
Director, Diabetes Research Unit Monash University Philadelphia, Pennsylvania
Boston Medical Center Parkville, Victoria, Australia
Boston, Massachusetts Richard Stanhope, BSc, MD, DCH, FRCP,
Gerald I. Shulman, MD, PhD, FACP FRCPCH
Irma H. Russo, MD, FCAP, FASCP George R. Cowgill Professor of Physiological Consultant Paediatric Endocrinologist
Chief, Molecular Endocrinology Section Chemistry, Medicine and Cellular and Molecular The Portland Hospital Consulting Rooms
Breast Cancer Research Laboratory Physiology London, United Kingdom
Fox Chase Cancer Center Internal Medicine
Philadelphia, Pennsylvania Yale University School of Medicine René St-Arnaud, PhD
New Haven, Connecticut Professor and Senior Investigator
Jose Russo, MD Genetics Unit
Professor Paolo S. Silva, MD Shriners Hospital for Children;
Breast Cancer Research Staff Ophthalmologist, Assistant Chief of Professor of Medicine, Surgery, and Human
Fox Chase Cancer Center Telemedicine Genetics
Philadelphia, Pennsylvania Beetham Eye Institute Department of Human Genetics
Joslin Diabetes Center McGill University
Wael Antoine Salameh, MD, FACP Boston, Massachusetts Montreal, Québec, Canada
Medical Director
Department of Molecular Endocrinology Shonni J. Silverberg, MD Donald F. Steiner, MD
Cardiovascular and Metabolism Division Professor of Medicine Professor, Biochemistry and Molecular Biology
Quest Diagnostics Nichols Institute Division of Endocrinology and Metabolism Department of Medicine
San Juan Capistrano, California; Columbia University College of Physicians and The University of Chicago,
Associate Clinical Professor of Medicine Surgeons Senior Investigator
Department of Endocrinology New York, New York Howard Hughes Medical Institute
David Geffen School of Medicine Chicago, Illinois
University of California Los Angeles Frederick R. Singer, MD
Los Angeles, California Director, Endocrine/Bone Disease Program Adam Stevens, PhD
John Wayne Cancer Institute Research Associate
Isidoro B. Salusky, MD Santa Monica, California; School of Clinical and Laboratory Sciences
Distinguished Professor of Pediatrics Clinical Professor of Medicine University of Manchester
Pediatrics David Geffen School of Medicine at University of Manchester, United Kingdom
David Geffen School of Medicine at UCLA California Los Angeles
Los Angeles, California Los Angeles, California Andrew F. Stewart, MD
Chief, Division of Endocrinology, and Professor of
Mary H. Samuels, MD Niels E. Skakkebaek, MD Medicine
Professor of Medicine Professor Division of Endocrinology, Department of
Division of Endocrinology, Diabetes and Clinical University Department of Growth and Medicine
Nutrition Reproduction University of Pittsburgh School of Medicine
Oregon Health and Science University Rigshospitalet Pittsburgh, Pennsylvania
Portland, Oregon Copenhagen, Denmark

Dorota Skowronska-Krawczyk, PhD

HHMI, Department of School of Medicine
University of California San Diego
La Jolla, California
xiv Contributors

Paul M. Stewart, MB, ChB, MD, FRCP, Michael O. Thorner, MB, BS, DSc, MACP Eric Vilain, MD, PhD
FMedSci David C Harrison Medical Teaching Professor of Professor of Human Genetics, Pediatrics and
Professor Internal Medicine Urology, Chief of Medical Genetics
University of Birmingham Medicine Human Genetics
Queen Elizabeth Hospital University of Virginia David Geffen School of Medicine at University of
Edgbaston, Birmingham, United Kingdom Charlottesville, Virginia California Los Angeles
Los Angeles, California
Donald L. St. Germain, MD Henri J.L.M. Timmers, MD, PhD
Professor Clinical Endocrinologist, Assistant Professor Theo J. Visser, PhD
Department of Medicine and Physiology Endocrinology Professor
Dartmouth Medical School Radboud University Nijmegen Medical Centre Department of Internal Medicine
Lebanon, New Hampshire; Nijmegen, The Netherlands Erasmus MC
Director Rotterdam, The Netherlands
Maine Medical Center Research Institute, Jorma Toppari, MD, PhD
Associate Vice President of Research Professor of Physiology Michael P. Wajnrajch, MD
Maine Medical Center Departments of Physiology and Pediatrics Senior Medical Director
Scarborough, Maine University of Turku Specialty Care
Turku, Finland Pfizer, Inc;
Jim Stockigt, MD, FRACP, FRCPA Associate Professor
Professor of Medicine Cristina Traggiai, MD Department of Pediatrics
Monash University, Pediatrician New York University
Consultant Endocrinologist Department of Neonatal Intensive Care Unit, New York, New York
Epworth Hospital, University of Genoa
Emeritus Consultant Endocrinologist IRCCS G. Gaslini Gary Wand, MD
Alfred Hospital Genoa, Italy The Alfredo Rivière and Norma Rodriguez de
Melbourne, Australia Rivière Professor of Endocrinology and
Michael L. Traub, MD Metabolism Director, Endocrine Training
Jerome F. Strauss, III, MD, PhD Assistant Clinical Professor Program
Executive Vice President for Medical Affairs Island Reproductive Services Medicine
VCU Health System; Staten Island University Hospital The Johns Hopkins University School of Medicine
Dean, Virginia Commonwealth University of Staten Island, New York Baltimore, Maryland
Medicine
Professor of Obstetrics and Gynecology Yolanda Tseng Paul Webb, PhD
Virginia Commonwealth University Howard Hughes Medical Institute Research Scientist/Associate Member
Richmond, Virginia Division of Endocrinology Center for Diabetes Research
Children’s Hospital Boston The Methodist Hospital Research Institute
Lillian Marie Swiersz, MD Harvard Medical School Houston Texas
Reproductive Physician Boston, Massachusetts
Portola Valley Women’s Health Center Anthony P. Weetman, MD, DSc
Palo Alto Medical Foundation Fred W. Turek, PhD Professor of Medicine
Portola Valley, California Charles E. and Emma H. Morrison Professor of Department of Human Metabolism
Biology University of Sheffield
Lyndal J. Tacon, MBBS, FRACP Director, Center for Sleep and Circadian Biology Sheffield, United Kingdom
Department of Endocrinology, Royal North Shore Department of Neurobiology and Physiology
Hospital Northwestern University Nancy L. Weigel, PhD
Cancer Genetics Unit, Kolling Institute of Medical Evanston, Illinois Professor
Research Department of Molecular and Cellular Biology
Sydney, Australia Eve Van Cauter, PhD Baylor College of Medicine
Professor Houston, Texas
Shahrad Taheri, BSc, MSc, MB, BS, PhD, Department of Medicine
MRCP The University of Chicago Gordon C. Weir, MD
Doctor Chicago, Illinois Head, Section on Islet Transplantation and Cell
Heartlands Biomedical Research Centre (HBMRC) Biology
and School of Experimental Medicine Greet Van den Berghe, MD, PhD Diabetes Research and Wellness Foundation Chair
Birmingham Heartlands Hospital and University of Professor of Medicine Joslin Diabetes Center;
Birmingham Intensive Care Medicine Professor of Medicine
Birmingham, United Kingdom Catholic University of Leuven Harvard Medical School
Leuven, Belgium Boston, Massachusetts
Rajesh V. Thakker, MD, FRCP, FRCPath,
FMedSci André C. Van Steirteghem, MD, PhD Roy E. Weiss, MD, PhD
May Professor of Medicine Emeritus Professor Rabbi Esformes Professor
Nuffield Department of Medicine Reproductive Medicine Chairman (interim), Department of Medicine
University of Oxford Vrije Universiteit Brussel Chief, Section of Adult and Pediatric
Oxford, Oxon, United Kingdom Brussels, Belgium Endocrinology, Diabetes, Metabolism and
Hypertension
Chris Thompson, MB, ChB, MD, FRCPI Gilbert Vassart, MD, PhD The University of Chicago
Professor of Endocrinology Professor Chicago, Illinois
Academic Dept of Endocrinology IRIBHM
Beaumont Hospital/RCSI Medical School Faculty of Medicine Katherine Wesseling-Perry, MD
Dublin, Ireland Free University Brussels Assistant Professor of Pediatrics
Brussels, Belgium Department of Pediatric Nephrology
David Geffen School of Medicine
University of California Los Angeles
Los Angeles, California
 Contributors xv

Anne White, PhD Michael P. Whyte, MD Joseph I. Wolfsdorf, MB, BCh

Professor of Endocrine Sciences Professor of Medicine, Pediatrics, and Genetics Clinical Director and Associate Chief
Faculties of Life Sciences and Medical and Human Division of Bone and Mineral Diseases Division of Endocrinology
Sciences Washington University School of Medicine, Children’s Hospital Boston,
University of Manchester Medical-Scientific Director Professor of Pediatrics
Manchester, United Kingdom Center for Metabolic Bone Disease and Molecular Harvard Medical School
Research Boston, Massachusetts
Kenneth E. White, PhD Shriners Hospital for Children
Associate Professor St. Louis, Missouri Bernard Zinman, MD
Department of Medical and Molecular Genetics Director, Leadership Sinai Centre for Diabetes
Indiana University School of Medicine Wilmar M. Wiersinga, MD, PhD, FRCP Mount Sinai Hospital,
Indianapolis, Indiana (London) Professor of Medicine
Professor of Endocrinology University of Toronto
Morris F. White, PhD Department of Endocrinology and Metabolism Toronto, Ontario, Canada
Investigator, Howard Hughes Medical Institute Academic Medical Center
Professor of Pediatrics University of Amsterdam
Division of Endocrinology Amsterdam, The Netherlands
Department of Medicine
Harvard Medical School
Children’s Hospital Boston
Boston, Massachusetts
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