ESPE Abstracts

Background: Glucocorticoid therapy in 21-hydroxylase deficiency (congenital adrenal hyperplasia, CAH) both replaces the cortisol deficiency and reduces adrenal androgen production. Androgen control, however, often requires supraphysiologic and/or nocturnal glucocorticoid exposure. Chronic treatment in this manner contributes to long-term complications observed in CAH cohorts, including high rates of obesity, low bone density, glucose intolerance, skin fragility, and excess mor...

In the 1950s, Lawson Wilkins and colleagues described cortisone therapy for classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD). Wilkins also correctly reasoned that cortisol, derived from cortisone, would exert negative feedback on the hypothalamic-pituitary-adrenal axis and lower adrenal-derived androgens. In the decades following commercial availability of glucocorticoids, children with 21OHD have survived into adulthood; however, long-term compl...

Introduction: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a rare, autosomal disorder characterized by deficiency of cortisol and oftentimes aldosterone, elevated adrenocorticotropic hormone (ACTH), and excess androgen production. In a phase 2 study of adolescents with classic 21OHD, 14 days of treatment with the corticotropin-releasing factor type 1 receptor (CRF1) antagonist, crinecerfont, led to median percent red...

Background: Congenital adrenal hyperplasia (CAH) and long-term glucocorticoid treatment may be associated with an increased risk of developing cardiometabolic sequelae such as abnormal glucose homeostasis, hyperlipidaemia, hypertension, cardiovascular (CV) disease, obesity and osteoporosis.Objectives: To study the current practice amongst expert centres for assessing cardiometabolic outcomes in adult patients with 21-hyd...