Pituitary Macroadenoma With Macronodular Adrenal Hyperplasia and Novel Armadillo Repeat-Containing Protein 5 (ARMC5) Mutation

Shikha Khosla; Farah Alsarraf; Eric S Nylen

doi:10.1210/jcemcr/luad138

Pituitary Macroadenoma With Macronodular Adrenal Hyperplasia and Novel Armadillo Repeat-Containing Protein 5 (ARMC5) Mutation

JCEM Case Rep. 2024 Jan 12;2(2):luad138. doi: 10.1210/jcemcr/luad138. eCollection 2024 Feb.

Authors

Shikha Khosla^{1

2}, Farah Alsarraf³, Eric S Nylen^{1

2}

Affiliations

¹ Division of Endocrinology, Veterans Affairs Medical Center, Washington, DC 20422, USA.
² Department of Endocrinology, George Washington University, Washington, DC 20037, USA.
³ Department of Endocrinology, Mubarak Alkabeer University Hospital, Kuwait City, Kuwait.

Abstract

We present an unusual case of primary bilateral macronodular adrenal hyperplasia (PBMAH) in a 72-year-old African American man. The patient was found to harbor massively enlarged bilateral adrenal glands on imaging along with mild autonomous cortisol secretion. His workup for PBMAH included leukocyte analysis for the armadillo repeat-containing protein 5 (ARMC5) gene. The test revealed a novel heterozygous somatic ARMC5 mutation. The patient was initially managed conservatively. He subsequently presented with unprovoked bilateral pulmonary emboli. This was followed by the discovery of a nonsecreting pituitary macroadenoma, a hitherto unreported but putative association.

Keywords: Cushing syndrome; armadillo repeat-containing protein 5 (ARMC5) mutation; macronodular adrenal hyperplasia; pituitary macroadenoma.

Publication types

Case Reports