Macronodular Adrenal Hyperplasia due to Mutations in an Armadillo Repeat Containing 5 (<i>ARMC5</i>) Gene: A Clinical and Genetic Investigation

Abstract

ARMC5 mutations are implicated in clinically severe Cushing's syndrome associated with MAH. Knowledge of a patient's ARMC5 status has important clinical implications for the diagnosis of Cushing's syndrome and genetic counseling of patients and their families.