Sertoli cell only syndrome with ambiguous genitalia

Gurbuz F., CEYLANER S., ERDOĞAN Ş., TOPALOĞLU A. K., YÜKSEL B.

Journal of Pediatric Endocrinology and Metabolism, cilt.29, sa.7, ss.849-852, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 29 Sayı: 7
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1515/jpem-2015-0458
  • Dergi Adı: Journal of Pediatric Endocrinology and Metabolism
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.849-852
  • Anahtar Kelimeler: ambiguous genitalia, Sertoli cell only syndrome, SRY, 46,XX boy, INFERTILITY, REGION
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

© 2016 by De Gruyter.The Sertoli cell only syndrome (SCOS) is a rare genetic disorder with a variable phenotype ranging from a severe ambiguous genitalia to a normal male phenotype with infertility. SCOS is diagnosed on testicular histopathology as germ cells are absent without histological impairment of Sertoli or Leydig cells. The SRY positive XX male syndrome is usually diagnosed in adulthood during infertility investigations. Here, we report a rare case of 46,XX maleness with ambiguous genitalia due to Sertoli cell only syndrome (SCOS).