hrp0086p2-p669 | Growth P2 | ESPE2016

A GH-1 Mutation Diagnosed in a Preadolescent Obese Girl with Only Mild Reduced Height

Bereau Agnes , Coutant Regis , Bouhours-Nouet Natacha

Background: Mutations in GH-1 are classically associated with autosomal dominant familial isolated GH deficiency (IGHD type II).Objective and hypotheses: Here, we report a new case of GH-1 mutation identified in a preadolescent girl consulting for a mild reduced stature contrasting with obesity.Method: The patient was born from non consanguineous French parents. She consulted at the age of 9 for short stature. Her...