A novel nonsense mutation in ARMC5 causes primary bilateral macronodular adrenocortical hyperplasia.

ABSTRACT:

Background

Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) is a rare form of adrenal Cushing's syndrome. The slowly progressing expansion of bilateral adrenal tissues usually persists for dozens of years, leading to delayed onset with severe conditions due to chronic mild hypercortisolism. About 20-50% cases were found to be caused by inactivating mutation of armadillo repeat-containing protein 5 (ARMC5) gene.

Case presentation

A 51-year-old man was admitted for severe diabetes mellitus, resistant hypertension, centripedal obesity and edema. PBMAH was diagnosed after determination of adrenocorticotropic hormone and cortisol levels, dexamethasone suppression tests and abdominal contrast-enhanced CT scanning. The metabolic disorders of the patient remarkably

SUBMITTER: He WT 

PROVIDER: S-EPMC8108324 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature