A Case of Familial Carney Complex

作者：Zhang, Yan-Li; Wang, Xiao-Cong^*; Yu, Wei; Pei, Li-Ping; Ma, Yan; Jiang, Shu; Sun, Yun-Peng

来源：Archives of Iranian Medicine, 2015, 18(5): 324-328.

• Carney complex
• Leydig's cell tumors
• myxomas
• PRKAR1A gene
• schwannomas
• Sertoli cell tumors
• skin lentigines

Carney complex is a syndrome characterized by skin pigmentation abnormalities, mykomas, 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.

• 出版日期2015-5
• 单位吉林大学