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

Document Type

Journal Article

Publication Date

2-1-2024

Journal

JCEM case reports

Volume

2

Issue

2

DOI

10.1210/jcemcr/luad138

Keywords

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

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 () gene. The test revealed a novel heterozygous somatic 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.

Department

Medicine

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