title: Sertoli cell only syndrome with ambiguous genitalia.
abstract: 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).
authors.forename: Fatih
authors.initials: F
authors.lastname: Gurbuz
authors.forename: Serdar
authors.initials: S
authors.lastname: Ceylaner
authors.forename: Seyda
authors.initials: S
authors.lastname: Erdogan
authors.forename: Ali Kemal
authors.initials: AK
authors.lastname: Topaloglu
authors.forename: Bilgin
authors.initials: B
authors.lastname: Yuksel
mesh_terms: D058531:46, XX Testicular Disorders of Sex Development / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D003241:Consanguinity; D020732:Cytogenetic Analysis; D024282:Genes, sry; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D054331:Sertoli Cell-Only Syndrome / Q000209:etiology*; D014178:Translocation, Genetic; D014421:Turkey