Nonclassical GH insensitivity: Characterization of mild abnormalities of GH action

Helen L. Storr, Sumana Chatterjee, Louise A. Metherell, Corinne Foley, Ronald (Ron) Rosenfeld, Philippe F. Backeljauw, Andrew Dauber, Martin O. Savage, Vivian Hwa

Research output: Contribution to journalReview article

3 Citations (Scopus)

Abstract

GH insensitivity (GHI) presents in childhood with growth failure and in its severe form is associated with extreme short stature and dysmorphic and metabolic abnormalities. In recent years, the clinical, biochemical, and genetic characteristics of GHI and other overlapping short stature syndromes have rapidly expanded. This can be attributed to advancing genetic techniques and a greater awareness of this group of disorders. We review this important spectrum of defects, which present with phenotypes at the milder end of the GHI continuum. We discuss their clinical, biochemical, and genetic characteristics. The objective of this review is to clarify the definition, identification, and investigation of this clinically relevant group of growth defects. We also review the therapeutic challenges of mild GHI.

Original languageEnglish (US)
Pages (from-to)476-505
Number of pages30
JournalEndocrine reviews
Volume40
Issue number2
DOIs
StatePublished - Jan 1 2019

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Molecular Biology
Genetic Techniques
Growth
Phenotype
Therapeutics
SHORT syndrome

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

Storr, H. L., Chatterjee, S., Metherell, L. A., Foley, C., Rosenfeld, R. R., Backeljauw, P. F., ... Hwa, V. (2019). Nonclassical GH insensitivity: Characterization of mild abnormalities of GH action. Endocrine reviews, 40(2), 476-505. https://doi.org/10.1210/er.2018-00146

Nonclassical GH insensitivity : Characterization of mild abnormalities of GH action. / Storr, Helen L.; Chatterjee, Sumana; Metherell, Louise A.; Foley, Corinne; Rosenfeld, Ronald (Ron); Backeljauw, Philippe F.; Dauber, Andrew; Savage, Martin O.; Hwa, Vivian.

In: Endocrine reviews, Vol. 40, No. 2, 01.01.2019, p. 476-505.

Research output: Contribution to journalReview article

Storr, HL, Chatterjee, S, Metherell, LA, Foley, C, Rosenfeld, RR, Backeljauw, PF, Dauber, A, Savage, MO & Hwa, V 2019, 'Nonclassical GH insensitivity: Characterization of mild abnormalities of GH action', Endocrine reviews, vol. 40, no. 2, pp. 476-505. https://doi.org/10.1210/er.2018-00146
Storr HL, Chatterjee S, Metherell LA, Foley C, Rosenfeld RR, Backeljauw PF et al. Nonclassical GH insensitivity: Characterization of mild abnormalities of GH action. Endocrine reviews. 2019 Jan 1;40(2):476-505. https://doi.org/10.1210/er.2018-00146
Storr, Helen L. ; Chatterjee, Sumana ; Metherell, Louise A. ; Foley, Corinne ; Rosenfeld, Ronald (Ron) ; Backeljauw, Philippe F. ; Dauber, Andrew ; Savage, Martin O. ; Hwa, Vivian. / Nonclassical GH insensitivity : Characterization of mild abnormalities of GH action. In: Endocrine reviews. 2019 ; Vol. 40, No. 2. pp. 476-505.
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