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.
1. |
Assié G et al. (2013) ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome. |
2. |
Faucz FR et al. (2014) Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation. |
3. |
Alencar GA et al. (2014) ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia. |
4. |
Gagliardi L et al. (2014) ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia. |
5. |
Gagliardi L et al. (2009) Familial vasopressin-sensitive ACTH-independent macronodular adrenal hyperplasia (VPs-AIMAH): clinical studies of three kindreds. |
6. |
OMIM.ORG article Omim 615954 |