Endocrine Abstracts

Background: Adrenal crisis (AC) is a life-threatening complication in patients with congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency (21-OHD). AC was defined as an acute state of health impairment which required i.v. glucocorticoid administration and hospital admission. No data on AC over life-time in 21-OHD is available.Study design: In a retrospective study AC was studied following two approaches: a) questionnaire-based: 122 ad...

Glucocorticoid treatment in congenital adrenal hyperplasia (CAH) is a continuous challenge, with even the experienced clinician struggling to strike the right balance between glucocorticoid over- and undertreatment. There is no consensus on monitoring of glucocorticoid therapy in adults with CAH. Some recommend a serum 17-hydroxyprogesterone (17OHP) target range of 12–36 nmol/l prior to glucocorticoid morning dose. Here we investigated the value of serum and urinary stero...

Steroid 17α-hydroxylase (CYP17A1) deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH). Both, 17-hydroxylase and 17,20-lyase reactions are catalysed by CYP17A1. Here, we analysed the structural and functional consequences of 3 novel CYP17A1 mutations found in 3 patients suffering from 17OHD. Two individuals with 46,XY DSD, presented with tall stature and one with arterial hypertension. Mutation screening of the CYP17A1 gene revealed comp...