Genetic defects of the human somatotropic axis

Louise A. Metherell, Helen L. Storr and Martin O. Savage

in Oxford Textbook of Endocrinology and Diabetes

Second edition

Published on behalf of Oxford University Press

Published in print July 2011 | ISBN: 9780199235292
Published online July 2011 | e-ISBN: 9780199608232 | DOI:

Series: Oxford Textbooks

Genetic defects of the human somatotropic axis

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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

Chapter.  5115 words.  Illustrated.

Subjects: Endocrinology and Diabetes

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