Searchable abstracts of presentations at key conferences in endocrinology

ea0041gp25 | Adrenal (2) | ECE2016

Novel genetic changes in Autosomal dominant, ACTH independent nacronodular adrenal hyperplasia associated with hypercortisolism and giant adrenals

Munter Gabriel , Altarescu Geona , Beeri Rachel , Berthon Annabel , Faucz Fabio Rueda , Weiss Ruchama , Stratakis Constantine

ACTH independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of CushingÂ’s syndrome. Both Phosphodiesterase 11A4 (PDE11A4) mutations and inactivating mutations of armadillo repeat containing 5(ARMC5) have been associated with familial AIMAH. A family with autosomal dominant AIMAH was studied trying to elucidate the involved genetic basis.Methods and results: Adrenal hypercortisolism with giant bilateral AH was diagnosed in three adult me...