Isolated Growth Hormone Deficiency due to the R183H Mutation in GH1: Clinical Analysis of a Four-Generation Family

Abstract

The R183H mutation in the growth hormone gene (GH1) is a well-described genetic variant that causes autosomal dominant isolated growth hormone deficiency (IGHD) type II. Previous studies have demonstrated that individuals with this mutation have releasable growth hormone (GH) stores, but such release is severely impaired. Hess et al. reported variable height deficits (-4.5 to -1.0 SDS), variable IGF-I concentrations (-2.9 to -0.8 SDS), and low but detectable, or even normal stimulated peak GH in several patients with the R183H mutation.

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