title: Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD.
abstract: BACKGROUND
  Translocation of the SRY gene to the paternal X chromosome is the explanation for testis development in the majority of subjects with 46,XX testicular disorder of sexual development (DSD). However, nearly all subjects with 46,XX ovotesticular DSD and up to one third of subjects with 46,XX testicular DSD lack SRY. SRY-independent expression of SOX9 has been implicated in the etiology of testis development in some individuals.
  
  
  METHODS
  We amplified microsatellite markers in the region of SOX9 from a cohort of 30 subjects with either 46,XX testicular or 46,XX ovotesticular DSD to detect SOX9 duplications.
  
  
  RESULTS
  Duplication of the SOX9 region in 17q was not detected in any subject.
  
  
  CONCLUSIONS
  Duplication in the region of 17q that contains SOX9 is not a common cause of testis development in subjects with SRY-negative 46,XX testicular or ovotesticular DSD.
authors.affiliation: Division of Pediatric Endocrinology, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.
authors.forename: Tossaporn
authors.initials: T
authors.lastname: Seeherunvong
authors.forename: Supamit
authors.initials: S
authors.lastname: Ukarapong
authors.forename: Kenneth
authors.initials: K
authors.lastname: McElreavey
authors.forename: Gary D
authors.initials: GD
authors.lastname: Berkovitz
authors.forename: Erasmo M
authors.initials: EM
authors.lastname: Perera
mesh_terms: D058531:46, XX Testicular Disorders of Sex Development / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D020440:Gene Duplication; D006801:Humans; D008297:Male; D050090:Ovotesticular Disorders of Sex Development / Q000235:genetics*; D055758:SOX9 Transcription Factor / Q000235:genetics*
chemical_list: D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human