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.
APA Citation
Khosla, Shikha; Alsarraf, Farah; and Nylen, Eric S., "Pituitary Macroadenoma With Macronodular Adrenal Hyperplasia and Novel Armadillo Repeat-Containing Protein 5 (ARMC5) Mutation" (2024). GW Authored Works. Paper 4425.
https://hsrc.himmelfarb.gwu.edu/gwhpubs/4425
Department
Medicine