Growth Disorders PDF
Preview Growth Disorders
Growth Disorders Second Edition Christopher J. H. Kelnar Professor of Paediatric Endocrinology University of Edinburgh, UK Martin O. Savage Professor of Paediatric Endocrinology Barts and the London School of Medicine and Dentistry, UK Paul Saenger Professor of Pediatrics Albert Einstein College of Medicine, USA Chris T. Cowell Clinical Associate Professor, Director of Clinical Research, and Head Institute of Endocrinology and Diabetes University of Sydney, Australia First published in Great Britain in 1998 by Chapman & Hall This second edition published in 2007 by Hodder Arnold, an imprint of Hodder Education and a member of the Hodder Headline Group, an Hachette Livre UK Company 338 Euston Road, London NW1 3BH www.hoddereducation.com ©2007 Edward Arnold (Publishers) Ltd All rights reserved. Apart from any use permitted under UK copyright law, this publication may only be reproduced, stored or transmitted, in any form, or by any means with prior permission in writing of the publishers or in the case of reprographic production in accordance with the terms of licences issued by the Copyright Licensing Agency. In the United Kingdom such licences are issued by the Copyright Licensing Agency: Saffron House, 6-10 Kirby Street, London EC1N 8TS. Whilst the advice and information in this book are believed to be true and accurate at the date of going to press, neither the author[s] nor the publisher can accept any legal responsibility or liability for any errors or omissions that may be made. In particular (but without limiting the generality of the preceding disclaimer) every effort has been made to check drug dosages; however it is still possible that errors have been missed. Furthermore, dosage schedules are constantly being revised and new side-effects recognized. For these reasons the reader is strongly urged to consult the drug companies’ printed instructions before administering any of the drugs recommended in this book. British Library Cataloguing in Publication Data A catalogue record for this book is available from the British Library Library of Congress Cataloging-in-Publication Data A catalog record for this book is available from the Library of Congress ISBN 978 0 340 81240 2 1 2 3 4 5 6 7 8 9 10 Commissioning Editor: Sarah Burrows Project Editor: Francesca Naish Production Controller: Joanna Walker Cover Designer: Helen Townson Indexer: Laurence Errington Typeset in 10/12 Minion by Charon Tec Ltd (A Macmillan Company), Chennai, India www.charontec.com Printed and bound in Italy What do you think about this book? Or any other Hodder Arnold title? Please visit our website: www.hoddereducation.com Contents Contributors vii Foreword xiii Preface to the first edition xv Preface to the second edition xvii List of abbreviations used xix Colour plates between 280 and 281 1 Historical background and worldwide perspectives 1 Michael A Preece, Noël Cameron PART 1: PHYSIOLOGY OF LINEAR GROWTH 2 Cellular growth 15 Olle Söder 3 Bone and cartilage growth and metabolism 25 Dov Tiosano, Ze’ev Hochberg 4 Genetic control of growth 48 Primus E Mullis 5 Nutrition and growth 72 J M Ketelslegers, V Beauloye, D Maiter, M Maes, L E Underwood, J P Thissen 6 Endocrinology of growth: Central control 90 Julie A Chowen, Laura M Frago, Jesús Argente 7 Peripheral hormone action 114 Jeff M P Holly 8 Normal fetal growth 127 Linda B Johnston 9 Growth in infancy and childhood 132 Amanda J Drake, Christopher J H Kelnar 10 Growth at adolescence 150 John M H Buckler 11 Growth references 165 Stef van Buuren PART 2: GROWTH ASSESSMENT 12 Abnormal growth: Definition, pathogenesis, and practical assessment 185 Malcolm D C Donaldson, Wendy Paterson 13 Practical auxology and skeletal maturation 208 Jerry K H Wales 14 Endocrine assessment and principles of endocrine testing 219 P C Hindmarsh 15 Radiologic and imaging assessment of the skeletal dysplasias 230 Ralph S Lachman 16 Psychological assessment 241 Melissa Colsman, David E Sandberg iv Contents PART 3: CHRONIC PEDIATRIC DISORDERS AND MANAGEMENT OF THE ASSOCIATED GROWTH DISTURBANCE 17 Short stature syndromes 259 Geert R Mortier, John M Graham Jr, David L Rimoin 18 Genetic and dysmorphic syndromes with increased stature 281 Michael A Patton, Nazneen Rahman 19 Skeletal dysplasias 291 Lars Hagenäs 20 Respiratory disorders 317 Jennifer A Batch, Ristan M Greer 21 Gastrointestinal disorders 328 R M Beattie, M O Savage 22 Renal disorders 340 Elke Wühl, Franz Schaefer 23 Metabolic bone diseases: Disorders of calcium and phosphate metabolism 359 Oliver Fricke, Eckhard Schönau 24 Diabetes 372 David B Dunger, M Lynn Ahmed 25 Hemoglobinopathies 386 Beatrix Wonke, Vincenzo De Sanctis 26 Psychological disorders associated with short stature 396 David Skuse, Jane Gilmour 27 Etiology and management of growth failure in tropical and developing countries 405 Palany Raghupathy PART 4: ENDOCRINE CAUSES OF ABNORMAL GROWTH 28 Abnormalities of growth hormone secretion 415 Frank B Diamond, Barry B Bercu 29 Abnormalities of growth hormone action 444 Katie Woods, Ron Rosenfeld 30 Growth and thyroid disorders 459 Annette Grüters 31 Adrenal disorders 467 Helen L Storr, Martin O Savage 32 Gonadal disorders 472 S Faisal Ahmed PART 5: TREATMENT OF GROWTH DISORDERS 33 Treatment of growth disorders: Growth hormone deficiency 483 Raymond L Hintz 34 Idiopathic short stature 496 J M Wit 35 Turner and Noonan syndromes: Disease-specific growth and growth-promoting therapies 512 Michael B Ranke 36 Prader–Willi syndrome: Disease-specific auxology and therapy 526 Ann Christin Lindgren 37 Obesity in children and adolescents 538 Louise A Baur, Elizabeth Denney-Wilson 38 Diseases of growth in the child treated for cancer 563 Mark F H Brougham , W Hamish B Wallace, Christopher J H Kelnar 39 Growth hormone therapy in the short, small-for-gestational age child 576 Linda B Johnston 40 The evaluation and treatment of the child with precocious puberty 585 Joan DiMartino-Nardi, Katerina Harwood Contents v 41 Delay of growth and puberty 595 Henriette A Delemarre-van de Waal 42 Growth hormone insensitivity syndromes 609 Cecilia Camacho-Hübner, Martin O Savage 43 Growth hormone releasing peptides/secretogogues 614 Ezio Ghigo, F Broglio 44 Aromatase inhibitors 626 Leo Dunkel 45 Metabolic side effects and adverse effects of growth hormone therapy 638 Swati Banerjee, Paul Saenger 46 Medical management of tall stature 655 Stenvert L S Drop, Sabine M P F de Muinck Keizer-Schrama 47 Surgical management of tall stature 667 M F MacNicol Appendix to Chapter 12 674 Index 675 This page intentionally left blank Contributors M. Lynn Ahmed V. BeauloyeMD PhD Department of Paediatrics Unit of Pediatric Endocrinology University of Cambridge School of Medicine Addenbrooke's Hospital Catholic University of Louvain Cambridge Brussels UK Belgium Barry B. BercuMD S. Faisal Ahmed Professor, Departments of Pediatrics, Molecular Pharmacology Consultant Paediatric Endocrinologist and Physiology Honorary Senior Lecturer University of South Florida College of Medicine Department of Child Health Tampa Royal Hospital For Sick Children and Glasgow ALL Children’s Hospital UK St Petersburg Florida Jesús Argente USA Professor and Chief of Pediatrics Department of Endocrinology Fabio BroglioMD PhD Hospital Infantil Universitario Nino Jesus Division of Endocrinology Department of Paediatrics Department of Internal Medicine University Autonoma of Madrid University of Turin Turin Italy Swati BanerjeeMD Pediatric Endocrinology Mark F. H. Brougham Children’s Hospital Central California Specialist Registrar in Paediatric Oncology Madera Department of Paediatric Haematology and Oncology USA Royal Hospital for Sick Children Edinburgh Jennifer A. Batch UK Professor of Pediatrics and Child Health University of Queensland John M. H. BucklerDM DSc FRCP FRCPCH DCH Royal Children’s Hospital Honorary Senior Lecturer Herston Department of Paediatrics & Child Health Australia Leeds General Infirmary Leeds Louise A. BaurMBBS BSc (Med) PhD FRACP UK Professor of Paediatrics and Child Health Stef van Buuren University of Sydney Professor of Applied Statistics in Prevention Australia TNO Quality of Life Leiden R. Mark Beattie The Netherlands Consultant Paediatric Gastroenterologist Honorary Senior Lecturer Cecilia Camacho-Hübner Paediatric Medical Unit Department of Endocrinology Southampton General Hospital St Bartholomew’s Hospital Southampton London UK UK viii Contributors Noël Cameron MSc PhD Cbiol FIBiol Stenvert L. S. Drop MD PhD Professor of Human Biology Professor Department of Human Sciences Sophia Children’s Hospital Loughborough University Erasmus Medical Center Loughborough Rotterdam UK The Netherlands Julie A. Chowen PhD David B. DungerMB BS DCH MRCP MD FRCP FRCPCH Department of Endocrinology Professor of Paediatrics Hospital Infantil Universitario Nin˜o Jesús Department of Paediatrics Madrid University of Cambridge Spain Addenbrooke’s Hospital Melissa Colsman Cambridge Child Behavioral Health UK Department of Pediatrics Leo Dunkel University of Michigan Professor of Paediatrics Ann Arbor Kuopio University Hospital USA and Chris Cowell University of Kuopio Clinical Associate Professor, Kuopio University of Sydney Finland Director of Clinical Research Head, Institute of Endocrinology and Diabetes Laura M. Frago The Children's Hospital at Westmead Contracted Professor Westmead Department of Endocrinology Australia Hospital Infantil Universitario Nino Jesus Department of Paediatrics Henriette A. Delemarre-van de Waal PhD University Autonoma of Madrid Professor in Pediatric Endocrinology Department of Pediatrics Oliver FrickeMD VU University Medical Center Universitõts-Kinderklinik Amsterdam Köln The Netherlands Germany Elizabeth Denney-Wilson Post-Doctoral Fellow Ezio Ghigo New South Wales Centre for Overweight and Obesity Endocrine Division University of Sydney Department of Medicine Australia University of Turin Turin Frank B. DiamondMD Italy Professor University of South Florida College of Medicine Jane Gilmour Tampa Behavioural Sciences Unit USA Institute of Child Health University College London Malcolm D. C. Donaldson London Department of Child Health UK Royal Hospital for Sick Children Glasgow John M. Graham, Jr.MD ScD UK Professor of Pediatrics Amanda J. Drake David Geffen School of Medicine at UCLA Senior Lecturer Director of Clinical Genetics and Dysmorphology Department of Child Life and Health Director of Clinical Training in Medical Genetics University of Edinburgh Cedars-Sinai Medical Center Edinburgh Los Angeles UK USA Contributors ix Ristan M. Greer Jeff M. P. Holly Discipline of Paediatrics and Child Health Professor of Clinical Sciences University of Queensland Department of Clinical Science at North Bristol Royal Children’s Hospital University of Bristol Herston Southmead Hospital Australia Bristol UK Melvin M. GrumbachMD DM Hon causa (University of Geneva) D Hon Causa (University René Descartes, Paris) Edward B. Shaw Professor of Pediatrics Linda B. Johnston Emeritus Chairman Clinical Senior Lecturer in Paediatric Endocrinology Department of Pediatrics Centre for Endocrinology University of California Barts and the London Queen Mary School of Medicine San Francisco London USA UK Annette Grüters Christopher J. H. Kelnar Zentrum für Kinder und Jugendmedizin Professor of Paediatric Endocrinology Der Humboldt-Universität University of Edinburgh Berlin Edinburgh Germany UK Lars HagenäsMD PhD Pediatric Endocrine Unit Professor J. M. Ketelslegers MD PhD Pediatric Clinic Unit of Diabetes and Nutrition Karolinska Institute and University Hospital School of Medicine Stockholm Catholic University of Louvain Sweden Brussels Belgium Katerina Harwood Division of Pediatric Endocrinology Ralph S. Lachman Montefiore Medical Center County of Los Angeles Department of Health Services New York Harbor-UCLA Medical Center USA Torrance Peter C. Hindmarsh USA Professor of Paediatric Encrinology Developmental Encrinology Research Group Ann Christin Lindgren Molecular Genetics Unit Pediatric Endocrinology Unit Institute of Child Health Department of Woman and Child Health University College London Astrid Lindgrens Children’s Hospital London Karolinska Hospital UK Stockholm Sweden Raymond L. HintzMD Professor Emeritus Malcolm F. MacNicol Department of Pediatrics Consultant Orthopaedic Surgeon Stanford University School of Medicine Royal Hospital for Sick Children Stanford Edinburgh USA UK Ze’ev Hochberg MD PhD Professor of Pediatrics M. Maes MD PhD Division of Endocrinology Professor Meyer Children's Hospital Unit of Pediatric Endocrinology Rambam Medical Center School of Medicine Technicon–Israel Institute of Technology Catholic University of Louvain Haifa Brussels Israel Belgium
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