Title of article :
A Case of Familial Carney Complex
Author/Authors :
Zhang, Yan-Li Department of Echocardiography - Cardiovascular Center - First Hospital - Jilin University , Wang, Xiao-Cong Department of Echocardiography - Cardiovascular Center - First Hospital - Jilin University , Yu, Wei Department of Echocardiography - Cardiovascular Center - First Hospital - Jilin University , Pei, Li-Ping Department of Echocardiography - Cardiovascular Center - First Hospital - Jilin University , Ma, Yan Department of Echocardiography - Cardiovascular Center - First Hospital - Jilin University , Jiang, Shu Department of Echocardiography - Cardiovascular Center - First Hospital - Jilin University , Sun, Yun-Peng Department of Echocardiography - Cardiovascular Center - First Hospital - Jilin University
Abstract :
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
Keywords :
Carney complex , Leydig’s cell tumors , myxomas , PRKAR1A gene , schwannomas , Sertoli cell tumors , skin lentigines
Journal title :
Astroparticle Physics
