Pituitary Macroadenoma With Macronodular Adrenal Hyperplasia and Novel Armadillo Repeat-Containing Protein 5 (ARMC5) Mutation Article Swipe
Related Concepts
Medicine
Internal medicine
Endocrinology
Hyperplasia
Somatic cell
Mutation
Germline mutation
Pathology
Biology
Gene
Genetics
Shikha Khosla
,
Farah Alsarraf
,
Eric Nylén
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1210/jcemcr/luad138
· OA: W4390829694
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1210/jcemcr/luad138
· OA: W4390829694
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.
Related Topics
Finding more related topics…