Novel ARMC5 mutations in primary bilateral macronodular adrenal hyperplasia: a family report

Abstract

Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of overt Cushing's syndrome (CS), which usually manifests as bilateral macronodular adrenal nodules and varying levels of cortisol secretion. Previous studies have shown that ARMC5 gene belongs to tumor suppressor gene, and its germline variants play a huge role in the occurrence of PBMAH, which may be inherited to family members and lead to more severe clinical symptoms. ARMC5 variants may be associated with meningiomas, which is also illustrated by our report. In addition, our discovery of a new mutation site in a family can also provide new targets and new directions for the study of PBMAH patients with ARMC5 mutations, and can also deepen clinicians' understanding of this disease.