A case of familial Carney complex.

نویسندگان

  • Yan Li Zhang
  • Xiao Cong Wang
  • Wei Yu
  • Li Ping Pei
  • Yan Ma
  • Shu Jiang
  • Yun Peng Sun
چکیده

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.

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عنوان ژورنال:
  • Archives of Iranian medicine

دوره 18 5  شماره 

صفحات  -

تاریخ انتشار 2015