TY - JOUR
T1 - Nonclassical GH insensitivity
T2 - Characterization of mild abnormalities of GH action
AU - Storr, Helen L.
AU - Chatterjee, Sumana
AU - Metherell, Louise A.
AU - Foley, Corinne
AU - Rosenfeld, Ron G.
AU - Backeljauw, Philippe F.
AU - Dauber, Andrew
AU - Savage, Martin O.
AU - Hwa, Vivian
N1 - Funding Information:
Disclosure Summary: H.L.S. received research funding from Ipsen and Sandoz Pharmaceuticals. P.F.B. received research funding from Ipsen Pharmaceuticals. P.F.B. and A.D.
Funding Information:
Financial Support: This work was supported in part by National Institutes of Health/National Institute of Child Health and Human Development Grant R01HD078592 (to V.H.).
Publisher Copyright:
© 2019 Endocrine Society.
PY - 2019
Y1 - 2019
N2 - 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.
AB - 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.
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U2 - 10.1210/er.2018-00146
DO - 10.1210/er.2018-00146
M3 - Review article
C2 - 30265312
AN - SCOPUS:85062993330
SN - 0163-769X
VL - 40
SP - 476
EP - 505
JO - Endocrine Reviews
JF - Endocrine Reviews
IS - 2
ER -