The enigma unfolds: ARMC5-associated primary bilateral macronodular adrenal hyperplasia in a young man
Background: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of ACTH-independent Cushing syndrome. Germline pathogenic ARMC5 variants are among the most well-established genetic causes and are associated with variable penetrance and clinical expression. Diagnosis of PBMAH can be difficult and...