Three cases of Klinefelter's syndrome with unilateral absence of vas deferens

AKINSAL E. C., BAYDİLLİ N., İMAMOĞLU H., EKMEKÇİOĞLU O.

ANDROLOGIA, cilt.49, sa.9, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 49 Sayı: 9
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1111/and.12844
  • Dergi Adı: ANDROLOGIA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Erciyes Üniversitesi Adresli: Evet

Özet

Genital abnormalities such as congenital uni/bilateral absence of the vas deferens are very rare in Klinefelter's syndrome. Here, we report three cases of Klinefelter's syndrome with unilateral absence of the vas deferens. All cases had small testicles, and unilateral vas deferentia were not palpable. Hormonal evaluations revealed hypergon-adotropism. One case had elevated prolactin level, and pituitary adenoma was detected by magnetic resonance imaging. All cases were diagnosed as Klinefelter's syndrome (one of them had mosaicism) cytogenetically, and some CFTR gene mutations were detected. To our knowledge, this is the first case series of both conditions existing simultaneously.