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Deciphering Growth PDF

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RESEARCH AND PERSPECTIVES IN ENDOCRINE INTERACTIONS J.-C. Carel P.A. Kelly Y. Christen (Eds.) Deciphering Growth With 42 Figures and 14 Tables 123 Jean-Claude Carel, M.D. Yves Christen, Ph.D. Hôpital Saint Vincent de Paul Fondation IPSEN INSERM U.561 − Pour la Recherche Thérapeutique Service d‘Endocrinologie Pédiatrique 24, rue Erlanger Groupe Hospitalier Cochin-Saint Vincent 75781 Paris Cedex 16 de Paul-La-Roche Guyon France 74 à 82, Av Denfert Rochereau E-mail: [email protected] 75674 Paris Cedex 14 France E-mail: [email protected] Paul A. Kelly, Ph.D. Inserm U584 Faculté de Médecine Necker Enfants Malades 156, Rue de Vaugirard 75730 Paris Cedex 15 France E-mail: [email protected] ISSN 10 3-540-26192-3 Springer-Verlag Berlin Heidelberg New York ISBN 13 978-3-540-26192-6 Springer-Verlag Berlin Heidelberg New York Library of Congress Control Number: 2005926672 This work is subject to copyright. All rights are reserved, whether the whole or part of the material is con- cerned, specifi cally the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, re- production on microfi lms or in any other way, and storage in data banks. Duplication of this publication or parts thereof is permitted only under the provisions of the German Copyright Law of September 9, 1965, in its current version, and permission for use must always be obtained from Springer-Verlag. Violations are liable for prosecution under the German Copyright Law. Springer-Verlag is a part of Springer Science+Business Media springeronline.com © Springer-Verlag Berlin Heidelberg 2005 Printed in Germany The use of general descriptive names, registered names, trademarks, etc. in this publication does not imply, even in the absence of a specifi c statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. Product liability: The publishers cannot guarantee the accuracy of any information about dosage and appli- cation contained in this book. In every individual case the user must check such information by consulting the relevant literature. Editor: Dr. Rolf Lange, Heidelberg Desk Editor: Anne Clauss, Heidelberg Production: PRO EDIT GmbH, 69126 Heidelberg, Germany Cover design: design & production, 69121 Heidelberg, Germany Typesetting: SDS, Leimen, Germany Printed on acid-free paper 27/3152Re – 5 4 3 2 1 0 Preface Growth is a complex process that is essential to life. Not only does size play an important role in the process of cellular proliferation, but body size is also a critical factor in determining which organisms live longer. Evolution has been characterised by a dramatic increase in an organism’s body size, which is not only limited to the size of the brain. In mammals, the major factors involved in the regulation of body growth are known: insulin-like growth factors (IGF) are key regulators of somatic growth. Growth hormone (GH), secreted by the pituitary gland, directly re- gulates circulating levels of IGF-I, which is the major coordinator of spatio- temporal growth of the organism. In humans, growth is even more complex, involving a number of specific characteristics not found in other species. These include rapid intrauterine growth, deceleration just after birth, a mid- childhood growth spurt, a second deceleration before puberty, an adolescent growth spurt, and finally full statural growth, which is seen somewhat later. The combined knowledge concerning the endocrine and paracrine aspects of growth have led to the introduction of treatment regimens, most effective in GH-deficient children. However, size depends on the combination of a num- ber of genetic factors, and there remain several aspects of this complex pro- cess still poorly understood. The Fondation Ipsen organized the fourth meeting in a series on Research and Perspectives in Endocrine Interactions entitled Deciphering Growth (Par- is, December 6, 2004). The one-day meeting held in Paris was divided into three general sessions. The first, Evolution and genetics of growth, included talks on evolutionary trends in body size, the human evolution of gender- specific growth patterns, and the genetic control of body size at birth. The second general session was on the GH – IGF-I axis. Six speakers covered this broad subject, with presentations on isoforms of the GH receptor and growth in normal and pathological conditions, the use of mouse models to under- stand the role of the IGF-I receptor in growth, GH receptor downstream sig- nalling, differential actions of GH and IGF-I in target tissues, the regulation of brain growth by IGF-I via direct effects on neural progenitor cell proliferation and survival, and phenotypes associated with human IGF-I gene deletion. The final session was on Clinical approaches. The first two speakers covered the clinical perspective of measurement of circulating IGF-I levels and the importance of mutations of the type 1 IGF receptor in IGF-I resistance. The last two talks described the importance of national growth registries to pedia- VI Preface tric research, the French registry and the National Cooperative Growth Study (NCGS). P. Kelly J.C. Carel Y. Christen P.S. The editors wish to thank Mrs. Jacqueline Mervaillie for the organization of the meeting and Mrs. Mary Lynn Gage and Mrs. Astrid de Gérard for the editing of the book. Contents Evolutionary Trends in Body Size Andy Purvis and C. David L. Orme . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 Sexual Dimorphism in the Growth of Homo sapiens: Facts, Inferences and Speculation Ron G. Rosenfeld . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19 Genetic Control of Size at Birth David B. Dunger, C.J. Perty, and K.K. Ong . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 27 The GH/IGF-1 Axis: Insights from Animal Models Martin Holzenberger, Laurent Kappeler, Carlos De Magalhaes Filho, and Yves Le Bouc . . . . . . . . . . . . . . . . . . . . . . . . . . . . 41 Downstream Mechanisms of Growth Hormone Actions Vivien Hwa and Ron G. Rosenfeld . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 53 Growth Hormone Receptor Signaling and Differential Actions in Target Tissue Compared to IGF-I Paul A. Kelly, Anne Bachelot, Athanassia Sotiropoulos, and Nadine Binart . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 65 IGF-I and Brain Growth: Multifarious Effects on Developing Neural Cells and Mechanisms of Actions Teresa L. Wood, Terra J. Frederick, and Jennifer K. Ness . . . . . . . . . . . . . . . . . . . 77 IGF-I Deficiency: Lessons from Human Mutations Martin O. Savage, Cecilia Camacho-Hübner, Marie-José Walenkamp, L.A. Metherell, A. David, L.A. Pereira, Adam Denley, A.J.L. Clark, and Jan Maarten Wit . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 95 Putting IGF-I Biology into a Clinical Perspective Peter E. Clayton, U. Das, and A.J. Whatmore . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 107 VIII Contents IGF Resistance: The Role of the Type 1 IGF Receptor Steven D. Chernausek, M. Jennifer Abuzzahab, Wieland Kiess, Doreen Osgood, Anke Schneider, and Robert J. Smith . . . . . . . . . . . . . . . . . . . . . . 121 The Importance of the National Cooperative Growth Study (NCGS) Raymond L. Hintz . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 131 Why are we Treating Children with Growth Hormone Jean Claude Carel and Jean-Louis Chaussain . . . . . . . . . . . . . . . . . . . . . . . . . . . . 143 Subject Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 153 Contributors Abuzzahab, Jennifer Children‘s Hospitals and Clinics, St. Paul, Minnesota, USA Bachelot, Anne Inserm U584, Faculté de Médecine Necker, 156, Rue de Vaugirard, 75730 Paris Cedex 15, France Binart, Nadine Inserm U584, Faculté de Médecine Necker, 156, Rue de Vaudirard, 75730 Paris Cedex 15, France Camacho-Hübner, Cecilia Research Centre in Clinical and Molecular Endocrinology, William Harvey Research Institute, Queen Mary’s School of Medicine and Dentistry, Queen Mary’s University of London, London, UK Carel, Jean-Claude Pediatric Endocrinology and Inserm U561, Groupe hospitalier Cochin-Saint Vincent de Paul, 82 av Denfert Rochereau, 75014 Paris, France Chaussain, Jean-Louis Pediatric Endocrinology and Inserm U561, Groupe hospitalier Cochin-Saint Vincent de Paul, 82 av Denfert Rochereau, 75014 Paris, France X Contributors Chernausek, Steven D. University of Cincinnati School of Medicine, Cincinnati Children‘s Hospital Medical Center, Division of Endocrinology, 3333 Burnet Ave., Cincinnati OH 45229, USA Clark, A.J.L. Department of Endocrinology, Barts and the London, Queen Mary’s University of London, BEM Unit, London, UK Clayton, Peter E. Academic of Child Health, Division of Human Development and Reproductive Health, The Medical School, University of Manchester, Manchester M13 9PT, UK Das, U. Academic of Child Health, Division of Human Development and Reproductive Health, The Medical School, University of Manchester, Manchester M13 9PT, UK David, A. Department of Paediatric Endocrinology, St Bartholomew‘s Hospital, West Smithfield, London EC1A 7BE, UK De Magalhaes Filho, Carlos Inserm U515, Hôpital Saint-Antoine, 75571 Paris 12, France Denley, Adam School of Molecular and Biomedical Science, University of Adelaide, Adelaide, Australia Dunger, David B. Department of Paediatrics, University of Cambridge, Addenbrooke‘s Hospital, Box 116 Level 8, Hills Road, Cambridge CB2 2QQ, UK

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