Article
Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) patient with ARMC5 mutations.
BMC endocrine disorders - 7 Apr 2023
Tang Peng, Zhang Jun, Peng Song, Yan Xuzhi, Wang Yapeng, Wang Shuo, Zhang Yao, Liu Gaolei, Xu Jing, Huang Yiqiang, Zhang Dianzheng, Liu Qiuli, Jiang Jun, Lan Weihua
Abstract excerpt
BACKGROUND: Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) is a highly heterogeneous disease with divergent manifestations ranging from asymptomatic subclinical Cushing syndrome (CS) to overt Cushing syndrome with severe complications. ARMC5 mutations occur in 20 to 55% PBMAH patients usually with more severe phenotypes. Different ARMC5 mutations might be associated with diverse phenotypes of...
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