Endocrine Abstracts

Introduction: Although a number of studies have reported on the External Masculinisation Score (EMS) and have validated its use for numerical descriptions of the external genitalia, the methodology in these studies has not considered longitudinal changes in EMS.Objectives: To examine longitudinal changes in EMS in boys with XY Disorders of Sex Development (DSD) and determine the causes of these changes.Methods: All boys of confirme...

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder characterised by impaired cortisol synthesis. In the CaHASE study, a surprisingly low number of cases were identified as attending adult endocrine clinics. It has been suggested that patients with CAH are lost to follow up around the time of transition to adult services.In our service, there is a transition clinic that has a lead paediatric and adult Consultant who attend...

Introduction: Transcriptome analysis of peripheral blood mononuclear cells (PBMC) RNA has identified a set of androgen-responsive non-coding RNAs.Aim: To quantify the androgen-responsive gene expression and investigate its relationship to the testosterone (T) rise following hCG stimulation in boys with no genetic evidence of androgen insensitivity.Methods: Boys with suspected DSD who were evaluated at the Royal Hospital for Childre...

Introduction: Transcriptome analysis of peripheral blood mononuclear cells (PBMC) RNA has identified a set of androgen-responsive non-coding RNAs.Aim: To quantify the androgen-responsive gene expression and investigate its relationship to the testosterone (T) rise following hCG stimulation in boys with no genetic evidence of androgen insensitivity. Methods: Boys with suspected DSD who were evaluated at the Royal Hospital for Childr...

Background: Following a national survey indicating variations across the United Kingdom in the management of children and young persons with CAH, we aimed to explore the current practice of CAH clinical management.Methods: As part of an ongoing project, we collected data on 96 UK patients under 18 with 21-hydroxylase deficiency (48 females), 649 clinic visits from 15 centres, recorded in the I-CAH registry since 01/01/2016. We analysed information relate...

Background and Aim: Previous research using data from the I-CAH registry showed wide variation between countries in the provision of glucocorticoid (GC) replacement in congenital adrenal hyperplasia (CAH). In this study, we aimed to establish the impact of different GC doses on height and weight in children and young people with CAH.Methods: Data from children with CAH recorded in the I-CAH registry since 2003 was collected, providing a cohort of 1522 pa...