ESPE Abstracts

Background: Growth hormone deficiency (GHD) in children is a rare condition. It may be idiopathic or may develop as a consequence of congenital or acquired organic pathology of the hypothalamic-pituitary axis. GHD can be partial or part of a combined pituitary deficiency. Brain magnetic resonance imaging (MRI) is very useful in establishing the etiology of GHD and predicting its severity.Study aims: To investigate the re...

The majority of individuals with disorders/differences of sex development (DSD) do not have a genetic etiology. However, recently new genes causing DSD have been reported and using the unbiased approach of whole exome sequencing (WES) the diagnostic yield should be improving. Here, we performed WES on a large cohort of 125 individuals all of Algerian origin, who presented with a wide range of DSD phenotypes. Parental consanguinity was reported in 36% of individuals. The geneti...

Purpose: Isolated growth hormone deficiency (IGHD) is a rare condition mainly caused by mutations in GH1. The aim of this study was to assess the contribution of GHRHR mutations to IGHD in a very large cohort of patients.Methods: All GHRHR coding exons and flanking intronic regions were sequenced in 312 unrelated patients with non-syndromic IGHD. Functional consequences of all newly identified missense variants were assessed <e...