title: [SRY gene-testing in the diagnosis of disorders of sex development among children].
abstract: OBJECTIVE
  To investigate the value of direct sequencing of sex-determining region Y (SRY) gene, as well as peripheral blood karyotype analysis, in the diagnosis of disorders of sex development (DSD) among children and adolescents with ambiguous genitalia.
  
  
  METHODS
  The karyotypes of 20 children and adolescents with ambiguous genitalia were determined by conventional G-banding analysis. PCR amplification was used to detect SRY gene in these patients, and direct sequencing was used to judge whether there was SRY gene mutation.
  
  
  RESULTS
  Of the 20 cases, 17 were positive for SRY gene, and 3 were negative for SRY gene. Direct sequencing revealed no SRY gene mutation in the positive cases, however karyotype analysis found 4 special karyotypes in these patients: 46, XY, del(Y) (q12)/45, X; 46, XY, add(Y) (p11); 46, XY, r(9); 46, XY, 9qh+.
  
  
  CONCLUSIONS
  SRY gene detection can help determine the type of DSD among children and has the advantage of quick detection. Used together with G-banding analysis, it is helpful for primary diagnosis of DSD among children.
authors.affiliation: Department of Reproductive Medicine Laboratory, Wuhan Women and Children's Hospital, Wuhan 430016, China. estheresther@sina.com.
authors.forename: Ping-Xia
authors.initials: PX
authors.lastname: Xiang
authors.forename: Xiang
authors.initials: X
authors.lastname: Dai
authors.forename: Pei
authors.initials: P
authors.lastname: Leng
authors.forename: Ling
authors.initials: L
authors.lastname: Liu
authors.forename: Xi-Jiang
authors.initials: XJ
authors.lastname: Hu
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D059785:Karyotype; D051876:Sex-Determining Region Y Protein / Q000235:genetics*
chemical_list: C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein