Primary Bilateral Macronodular Adrenal Hyperplasia Associated With ARMC5 Variant and Pituitary Microadenoma

We report a case of primary bilateral macronodular adrenal hyperplasia (PBMAH) in a 63-year-old man with a novel germline armadillo repeat-containing protein 5 (ARMC5) variant of uncertain significance (c.2525T > C; p.Phe842Ser). Imaging and clinical findings revealed markedly enlarged bilateral adrenal glands and features of mild Cushing syndrome (CS). Clinical suspicion and recommendations from guidelines prompted genetic testing. Initial management focused on controlling comorbidities and monitoring hypercortisolism. Aberrant receptor testing was negative. Progression to overt CS prompted a nor-cholesterol scintigraphy scan, revealing higher uptake in the right adrenal gland. Right adrenalectomy was performed. Concurrent findings of hypogonadotropic hypogonadism and hyperprolactinemia led to the diagnosis of a pituitary microprolactinoma on magnetic resonance imaging. To our knowledge, this is the second reported case of PBMAH associated with a pituitary adenoma in the context of an ARMC5 variant.