Endocrine Abstracts

Background: Several studies suggest health problems in adult patients with CAH. However, data is inconsistent and based on small and relatively young cohorts.The aim of this study was to analyze the metabolic and cardiovascular health in a cohort of 90 adult patients with classic CAH.Subjects and methods: Participants included 90 patients with classic CAH: age range 18–62 years (mean 32.9±10.5, median 29.2) 39 male, 51 fe...

Background: Mutations of 21-hydroxylase (CYP21A2) cause congenital adrenal hyperplasia. Its severe (classic) form constitutes a life-threatening disease. Patients suffer a significant disease burden due to co-morbidities that are often treatment-related. The current therapeutic situation is unsatisfying and demands novel treatment approaches. In silico modelling suggests protein misfolding and intracellular retention to play a significant role in the pathogenesis of C...