Searchable abstracts of presentations at key conferences in endocrinology

ea0056p27 | Adrenal cortex (to include Cushing's) | ECE2018

A new ARMC5 mutation responsible for primary bilateral macronodular adrenal hyperplasia

Mazarico Isabel , Subias David , Guitart Miriam , Bella Rosa Maria , Albert Lara , Luchtenberg Florencia , Berges Irene , Capel Ismael , Cano Albert , Casamitjana Laia , Gimenez-Palop Olga , Caixas Assumpta , Rigla Mercedes

Introduction: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause (<2 percent) of endogenous Cushing’s syndrome, usually characterized by enlarged adrenal glands containing multiple functioning nonpigmented macronodules. PBMAH was thought to be sporadic, but recently a genetic component has been described. Specifically, inactivating mutations in ARMC5 (Armadillo-repeat containing 5), a suppressor gene, have been found in many familial c...