Work

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

Year: 2025

Type: article

Abstract: 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.

Source: JCEM Case Reports

DOI: 10.1210/jcemcr/luaf288

Authors: Lucía O’Connor-Ramiro, Pablo J Fernández, Julia Maroto, Ana Patiño-García, Javier Escalada, Carolina M Perdomo

Institutions: Clinica Universidad de Navarra, Universidad de Navarra, Navarre Institute of Health Research, Instituto de Salud Carlos III

Language: English

Topic: Adrenal and Paraganglionic Tumors

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $930