Brain morphometry and estimation of aging brain in subjects with congenital untreated isolated GH deficiency.

Purpose: Individuals with isolated GH deficiency (IGHD) due to a mutation in the GHRH receptor gene have a normal life expectancy and above 50 years of age, similar total cognitive performance, with better attention and executive function than controls. Our objectives were to evaluate their brain morphometry and brain aging using MRI.

Methods: Thirteen IGHD and 14 controls matched by age, sex, and education, were enrolled.

Magnetic resonance imaging study of pituitary morphology in subjects homozygous and heterozygous for a null mutation of the GHRH receptor gene.

Objective: Somatotrophs represent the majority of cells in the anterior pituitary, and their numeric reduction can cause anterior pituitary hypoplasia (APH). Small numbers of patients with familial isolated GH deficiency (IGHD) due to bi-allelic mutations in the GHRH receptor (GHRHR) gene (GHRHR) have been reported to have APH. We tested if APH was present in a large cohort of patients homozygous and heterozygous for a GHRHR mutation.