Sertoli cell only syndrome with ambiguous genitalia


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

Journal of Pediatric Endocrinology and Metabolism, vol.29, no.7, pp.849-852, 2016 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 29 Issue: 7
  • Publication Date: 2016
  • Doi Number: 10.1515/jpem-2015-0458
  • Journal Name: Journal of Pediatric Endocrinology and Metabolism
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.849-852
  • Keywords: ambiguous genitalia, Sertoli cell only syndrome, SRY, 46,XX boy, INFERTILITY, REGION

Abstract

© 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).