title: Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases.
abstract: OBJECTIVE
  To determine the frequency of XY karyotypes among females with complete gonadal dysgenesis (CGD) and to investigate the frequency of both gonadal tumors and SRY mutations.
  
  
  METHODS
  Retrospective study based on data from all patients with CGD seen in our service from 1989 to 2010.
  
  
  METHODS
  Clinic for disorders of sex development, University Hospital, State University of Campinas.
  
  
  METHODS
  Thirty-two patients with hypergonadotropic hypogonadism, streak gonads, internal and external female genitalia, and normal karyotype (46,XX or 46,XY); 31 were index cases and 29 did not have a previously determined karyotype.
  
  
  METHODS
  None.
  
  
  METHODS
  None.
  
  
  RESULTS
  The percentage of XY karyotypes among patients with CGD was 34.5% (10/29). Mean age at diagnosis among XY and XX patients was 17.4 years and 19.9 years, respectively. Gonadal tumors were found in 4 of 9 XY girls, and 7 of 10 had SRY gene mutations.
  
  
  CONCLUSIONS
  The previously unreported finding of an elevated frequency of 46,XY karyotype among patients with CGD and the high risk of gonadal neoplasia in such cases indicate that this diagnosis must be kept in mind by clinicians and strengthen the importance of karyotype analysis in females with primary hypogonadism. In addition, the frequency of SRY mutations in XY CGD might be higher than previously considered.
authors: Grupo Interdisciplinar de Estudos da Determinação e Diferenciação do Sexo, State University of Campinas, São Paulo, Brazil.
authors: Vanessa Brito Campoy
authors: VB
authors: Rocha
authors: Gil
authors: G
authors: Guerra-Júnior
authors: Antonia Paula
authors: AP
authors: Marques-de-Faria
authors: Maricilda Palandi
authors: MP
authors: de Mello
authors: Andréa Trevas
authors: AT
authors: Maciel-Guerra
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D005260:Female; D024282:Genes, sry; D006059:Gonadal Dysgenesis / Q000145:classification / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D059785:Karyotype; D011364:Professional Practice / Q000706:statistics & numerical data; D012189:Retrospective Studies; D055815:Young Adult