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