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Molecular Defects of the Growth Hormone Axis

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Human Growth Hormone

Part of the book series: Contemporary Endocrinology ((COE,volume 19))

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Abstract

The incidence of defects in growth hormone (GH) synthesis resulting in short stature is between 1:4,000 and 1:10,000 live births (1,2). Most of these cases are sporadic, without a known or proposed molecular defect. Some arise from recognizable cerebral defects (e.g., septo-optic dysplasia, pituitary malformations, or hydrocephalus); others have etiologies that are yet unknown. It has been estimated that only 5–30% of all cases of growth hormone deficiency (GHD) are secondary to heritable molecular causes (3).

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Authors
  1. Linda Anne DiMeglio MD
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  2. Paul L. Hofman MBCHB
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  3. Ora Hirsch Pescovitz MD
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Editors and Affiliations

  1. Huffington Center on Aging and Department of Cell Biology, Baylor College of Medicine, Houston, TX, USA

    Roy G. Smith PhD

  2. Department of Medicine, University of Virginia Health Sciences Center, Charlottesville, VA, USA

    Michael O. Thorner MD

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DiMeglio, L.A., Hofman, P.L., Pescovitz, O.H. (2000). Molecular Defects of the Growth Hormone Axis. In: Smith, R.G., Thorner, M.O. (eds) Human Growth Hormone. Contemporary Endocrinology, vol 19. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-015-5_11

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  • DOI: https://doi.org/10.1007/978-1-59259-015-5_11

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