ARMC5 Alterations in Primary Macronodular Adrenal Hyperplasia (PMAH) and the Clinical State of Variant Carriers

Primary macronodular adrenal hyperplasia (PMAH) is a rare type of Cushing or subclinical Cushing syndrome and is associated with bilateral multinodular formation. ARMC5 is one of the responsible genes for PMAH.This study was performed to identify the genotype-phenotype correlation of ARMC5 in a cohort of Japanese patients.Fourteen patients with clinically diagnosed PMAH and family members of selected patients were studied for ARMC5 gene...