Concepedia

Genetic Analysis of Short Children with Apparent Growth Hormone Insensitivity

Jan M. Wit, Hermine A. van Duyvenvoorde, Sitha A. Scheltinga, Sonja Bruin, L. Hafkenscheid, Sarina G. Kant, Claudia Ruivenkamp, A.C.J. Gijsbers, J. van Doorn, Eva Feigerlová,

Hormone Research in Paediatrics · 2012 · 49 citations · 28 references

DOI

Abstract

In severely short children with IGF-I deficiency, genetic assessment is advised. Heterozygous STAT5B mutations, with or without heterozygous IGFALS defects, may be associated with GH insensitivity. In children with less severe short stature or IGF-I deficiency, functional variants are rare.

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