hrp0086p1-p623 | Growth P1 | ESPE2016

Autosomal Dominant Growth Hormone Deficiency due to a Novel Mutation in the gh1 Gene

Ternand Christine , Gao Harry , Miller Bradley

Background: Familial growth hormone deficiency (GHD) with an autosomal dominant inheritance pattern (isolated GHD type II) due to multiple different mutations in the GH1 gene have been described.Objective and hypotheses: Describe the clinical characteristics and mutation analysis of affected individuals in a family with growth hormone deficiency inherited in an autosomal dominant pattern.Method: Medical record review.<p class="...