Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

Systematic

Disorders of the steroid hormone system
ACTH-independent macronodular adrenal hyperplasia 1
ACTH-independent macronodular adrenal hyperplasia 2
ARMC5
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Disorder of the aldosterone system
Disordered steroidogenesis due to POR deficiency
Glucocorticoid resistance
Obesity, adrenal insufficiency, and red hair due to POMC deficiency

References:

1.

Assié G et. al. (2013) ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.

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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.

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3.

Alencar GA et. al. (2014) ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia.

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4.

Gagliardi L et. al. (2014) ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.

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5.

Gagliardi L et. al. (2009) Familial vasopressin-sensitive ACTH-independent macronodular adrenal hyperplasia (VPs-AIMAH): clinical studies of three kindreds.

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Update: Sept. 26, 2018