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

Abstract excerpt

BACKGROUND: 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 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...

Topics

• Humans
• Male
• Adult
• Tumor Suppressor Proteins
• Pedigree
• Mutation
• Adrenal Glands