ESPE Abstracts

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 height at −1.5 SDS (regular growth) contrasted with obesity (BMI=+4 SDS) and a genetic target height of +1 S.D. There was no familial obesity. GH stimulation test showed a GH peak at 1.1 mUI/l (n>20 mUI/l). IGF1 was 70 ng/ml (<−2 S.D). Pituitary MRI was normal.

Results: During the 3.5 years of GH treatment, the height increased to 163 cm (+0.6 S.D), and BMI decreased from +4 S.D to +2 S.D. An heterozygous G6664A mutation in GH-1 caused Arg183His substitution (R183H) in the GH proteine.

Conclusion: We confirm here that GH-1 mutation could be responsible of obesity with mild growth retardation.