Case Report: a family presenting with β-adrenergic/vasopressin-responsive bilateral macronodular adrenal disease with an ARMC5 mutation treated with metyrapone monotherapy for more than 5 years.

Abstract excerpt

Bilateral macronodular adrenal disease (BMAD), also referred to as primary bilateral macronodular adrenal hyperplasia (PBMAH), represents a rare etiology of subclinical or overt Cushing's syndrome (CS), characterized by the presence of multiple large nodules in both adrenal glands. Although historically considered a sporadic condition, familial cases of BMAD have become increasingly recognized in recent years. As...

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