ACTH-independent macronodular adrenal hyperplasia 2
ACTH-independent macronodular adrenal hyperplasia 2 is an autosomal dominant disorder caused by mutations of the ARMC5 gene. It is characterized by adrenal hypertrophy and glucocorticoid overproduction (Cushing syndrome) while ACTH is rather suppressed.
Assié G et. al. (2013) ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.[^]
Faucz FR et. al. (2014) Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation.[^]
Alencar GA et. al. (2014) ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia.[^]
Gagliardi L et. al. (2014) ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.[^]
Gagliardi L et. al. (2009) Familial vasopressin-sensitive ACTH-independent macronodular adrenal hyperplasia (VPs-AIMAH): clinical studies of three kindreds.[^]