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dc.contributor.CRUESPUniversidade Estadual de Campinaspt_BR
dc.typeArtigo de periódicopt_BR
dc.titleComplete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of casespt_BR
dc.contributor.authorRocha, VBCpt_BR
dc.contributor.authorGuerra, Gpt_BR
dc.contributor.authorMarques-de-Faria, APpt_BR
dc.contributor.authorde Mello, MPpt_BR
dc.contributor.authorMaciel-Guerra, ATpt_BR
unicamp.authorCampoy Rocha, Vanessa Brito Guerra-Junior, Gil Marques-de-Faria, Antonia Paula de Mello, Maricilda Palandi Maciel-Guerra, Andrea Trevas Univ Estadual Campinas, Grp Interdisciplinar Estudos Determinacao & Difer, Sao Paulo, Brazilpt_BR
unicamp.authorGuerra-Junior, Gil Univ Estadual Campinas, Dept Pediat, Sao Paulo, Brazilpt_BR
unicamp.authorde Mello, Maricilda Palandi Univ Estadual Campinas, Ctr Biol Mol & Engn Genet, Sao Paulo, Brazilpt_BR
unicamp.authorMarques-de-Faria, Antonia Paula Maciel-Guerra, Andrea Trevas Univ Estadual Campinas, Dept Med Genet, Sao Paulo, Brazilpt_BR
dc.subjectGonadal dysgenesispt_BR
dc.subjectdisorders of sex developmentpt_BR
dc.subject.wosPremature Ovarian Failurept_BR
dc.subject.wosTestis-determining Regionpt_BR
dc.subject.wosConserved Domainpt_BR
dc.subject.wosSex Developmentpt_BR
dc.subject.wosHmg Boxpt_BR
dc.description.abstractObjective: 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.)pt
dc.relation.ispartofFertility And Sterilitypt_BR
dc.relation.ispartofabbreviationFertil. Steril.pt_BR
dc.publisher.cityNew Yorkpt_BR
dc.publisherElsevier Science Incpt_BR
dc.identifier.citationFertility And Sterility. Elsevier Science Inc, v. 96, n. 6, n. 1431, n. 1434, 2011.pt_BR
dc.sourceWeb of Sciencept_BR
dc.description.sponsorshipSAE-UNICAMP [1/8/2009-31/7/2010]pt_BR
dc.description.sponsordocumentnumberSAE-UNICAMP [1/8/2009-31/7/2010]pt
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