Endocrine Abstracts

Background: The Scottish Genital Anomaly Network(SGAN) is a national managed clinical network that provides care to patients with a suspected disorder of sex development(DSD). Factors that influence the decision to perform a karyotype in suspected DSD are unclear.Aim: To explore the SGAN register to study the factors that influence the decision to perform a karyotype. Variables examined included centre of presentation, examination findings and associated...

Background: Hypospadias in boys may be associated with a lack of androgen exposure during the masculinisation programming window. As testosterone has effects on the vasculature, we assessed whether boys with hypospadias show evidence of vascular dysfunction.Methods: Excess foreskin tissue was obtained from boys undergoing hypospadias repair (cases) or circumcision (controls) and small arteries dissected. Vascular contractility was assessed by wire myogra...

Background: Calculation of a urinary steroid metabolite ratio (uSMR) may be a useful method of improving diagnostic yield when investigating disorders of steroid hormone synthesis.Objective & HypothesisTo investigate the range of uSMR in children with suspected disorders of steroid hormone synthesis.Population / MethodsTen ratios were calculated on steroid metabolite data analysed b...

Background: The Congenital adrenal Hyperplasia (CAH) Adult Study Executive (CaHASE) identified poor metabolic outcomes and reduced quality of life in CAH. CaHASE2 was recently established to examine the current status of CAH care. We surveyed clinical practice in the UK and Ireland, and awareness and use of the International CAH (I-CAH) Registry.Methods: We undertook an anonymised online survey targeting clinicians provi...

Background: In 2019, the International CAH Registry (I-CAH) performed a benchmarking exercise of acute adrenal insufficiency related adverse events including adrenal crises (AC) and sick day episodes (SDE).Methods: In 2022, I-CAH data on children aged <18 years at first visit with 21-hydroxylase deficiency CAH from 35 centres in 19 countries were analysed to examine the current occurrence of SDE and AC and compared t...