Endocrine Abstracts

Introduction: There are contradictory results concerning bone mineral density status in adult patients with congenital adrenal hyperplasia. To resolve this issue, we hypothesized that there could be a correlation between BMD and a total cumulative glucocorticoid dose from the diagnosis in early infancy to adulthood. We then conducted a retrospective in a referral centers for CAH. Thirty-eight adult patients (28 women, 10 men, aged 16–39 years) suffering from CAH and treat...

Introduction: PBMAH is a rare but heterogeneous disease, characterized by multiple benign adrenal macronodules with variable levels of cortisol excess. In 2013, our team discovered germline heterozygous inactivating mutations of ARMC5, acting as a tumor suppressor gene. ARMC5 mutation rate is 50% in patients with PBMAH treated by adrenalectomy for severe hypercortisolism, 80% in familial cases and 20% in sporadic cases according to the current literature. The...