ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia.


CONTEXT Primary macronodular adrenal hyperplasia (PMAH) is a rare cause of Cushing's syndrome, usually characterized by functioning adrenal macronodules and increased cortisol production. Familial clustering of PMAH has been described, suggesting an inherited genetic cause for this condition. OBJECTIVE The aim of the present study was to identify the gene… (More)
DOI: 10.1210/jc.2013-4237