Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases

• Autor(a) principal: Campoy Rocha, Vanessa Brito
• Data de Publicação: 2011
• Outros Autores: Guerra-Junior, Gil, Marques-de-Faria, Antonia Paula, Mello, Maricilda Palandi de [UNIFESP], Maciel-Guerra, Andrea Trevas
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UNIFESP
• dARK ID: ark:/48912/001300000x34k
• DOI: 10.1016/j.fertnstert.2011.09.009
• Texto Completo: http://dx.doi.org/10.1016/j.fertnstert.2011.09.009; http://repositorio.unifesp.br/handle/11600/34243
• topic: Gonadal dysgenesis; disorders of sex development; genes; SRY; gonadoblastoma; dysgerminoma

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.Design: Retrospective study based on data from all patients with CGD seen in our service from 1989 to 2010.Setting: Clinic for disorders of sex development, University Hospital, State University of Campinas.Patient(s): 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.Intervention(s): None.Main Outcome Measure(s): None.Result(s): the percentage of XY karyotypes among patients with CGD was 34.5% (10/ 29). Mean age at diagnosis among XYand 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.Conclusion(s): 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. (Fertil Steril (R) 2011; 96: 1431-4. (C) 2011 by American Society for Reproductive Medicine.)