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Oxford Textbook of Endocrinology and Diabetes$
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Oxford Textbook of Endocrinology and Diabetes (2 ed.)

Edited by John A.H. Wass, Paul M. Stewart, Stephanie A. Amiel, Melanie C. Davies

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Publisher:
Oxford University Press
Print Publication Date:
Jul 2011
Print ISBN-13:
9780199235292
Published to Oxford Medicine:
Jul 2011
DOI:
10.1093/med/9780199235292.001.1

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Disclaimer

Oxford University Press makes no representation, express or implied, that the drug dosages in this book are correct. Readers must therefore always check the product information and clinical procedures with the most up to date published product information and data sheets provided by the manufacturers and the most recent codes of conduct and safety regulations. The authors and the publishers do not accept responsibility or legal liability for any errors in the text or for the misuse or misapplication of material in this work. Except where otherwise stated, drug dosages and recommendations are for the non-pregnant adult who is not breastfeeding.

Contents

Genetic defects of the human somatotropic axis

Chapter:
Genetic defects of the human somatotropic axis
Author(s):

Louise A. Metherell,

Helen L. Storr,

Martin O. Savage

DOI:
10.1093/med/9780199235292.003.7052

Linear growth is controlled by complex interactions between genetic and environmental factors. Our understanding of the endocrine physiology of growth has been revolutionized over the last 20 years by the field of molecular genetics, which has identified many genes involved in inherited human growth disorders.

Genetic defects in the human somatotropic axis will be presented and are classified as those associated with:

◆ multiple anterior pituitary hormone deficiencies

◆ isolated growth hormone deficiency

◆ growth hormone resistance syndromes

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