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The continuum between GH deficiency and GH insensitivity in children

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Abstract

The continuum of growth hormone (GH)-IGF-I axis defects extends from severe to mild GH deficiency, through short stature disorders of undefined aetiology, to GH insensitivity disorders which can also be mild or severe. This group of defects comprises a spectrum of endocrine, biochemical, phenotypic and genetic abnormalities. The extreme cases are generally easily diagnosed because they conform to well-studied phenotypes with recognised biochemical features. The milder cases of both GH deficiency and GH insensitivity are less well defined and also overlap with the group of short stature conditions, labelled as idiopathic short stature (ISS). In this review the continuum model, which plots GH sensitivity against GH secretion, will be discussed. Defects causing GH deficiency and GH insensitivity will be described, together with the use of a diagnostic algorithm, designed to aid investigation and categorisation of these defects. The continuum will also be discussed in the context of growth-promoting endocrine therapy.

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Authors and Affiliations

  1. Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, London, UK

    Martin O. Savage & Helen L. Storr

  2. John Vane Science Centre, William Harvey Research Institute, Charterhouse Square, London, EC1M 6BQ, UK

    Martin O. Savage

  3. Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, 45229, USA

    Philippe F. Backeljauw

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  1. Martin O. Savage
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  2. Helen L. Storr
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  3. Philippe F. Backeljauw
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Correspondence to Martin O. Savage.

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Savage, M.O., Storr, H.L. & Backeljauw, P.F. The continuum between GH deficiency and GH insensitivity in children. Rev Endocr Metab Disord 22, 91–99 (2021). https://doi.org/10.1007/s11154-020-09590-5

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