Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) patient with ARMC5 mutations.
Peng TangJun ZhangSong PengXuzhi YanYapeng WangShuo WangYao ZhangGaolei LiuJing XuYiqiang HuangDianzheng ZhangQiuli LiuJun JiangWeihua LanPublished in: BMC endocrine disorders (2023)
This PBMAH patient was identified with one ARMC5 germline mutation and five different somatic ARMC5 mutations (four novel mutations) in the different nodules of the bilateral adrenal masses. AVS combined with CT imagine could be helpful to determine the dominant side for adrenalectomy. Genetic testing is important for the diagnosis and management of the patient with PBMAH.