Academy of Medical Sciences of I.R. Iran Archives of Iranian Medicine 1029-2977 18 5 2015 05 01 A Case of Familial Carney Complex 0 0 EN Yan-Li Zhang Xiao-Cong Wang Wei Yu Li-Ping Pei Yan Ma Shu Jiang Yun-Peng Sun Journal Article Carney complex is a syndrome characterized by skin pigmentation abnormalities, myxomas, endocrine tumors/overactivity, and schwannomas. It is caused by a mutation in the PRKAR1A gene that encodes the enzyme protein kinase A regulatory subunit type 1 alpha. A 23-year old male was diagnosed with Carney complex on the basis of spotty skin lentigines on his face and lips, multiple thyroid neoplasms, a right ventricular myxoma, and bilateral testicular tumors. A total bilateral orchectomy was performed and the pathological findings revealed Leydig's cell tumors on one side and a Sertoli cell tumor on the other side. When his first-degree relatives were examined, his mother was found to have Carney complex as well. This is the first reported case of familial Carney complex in China.