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

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dc.contributor.authorCampoy Rocha, Vanessa Brito
dc.contributor.authorGuerra-Junior, Gil
dc.contributor.authorMarques-de-Faria, Antonia Paula
dc.contributor.authorMello, Maricilda Palandi de [UNIFESP]
dc.contributor.authorMaciel-Guerra, Andrea Trevas
dc.contributor.institutionUniversidade Estadual de Campinas (UNICAMP)
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2016-01-24T14:17:28Z
dc.date.available2016-01-24T14:17:28Z
dc.date.issued2011-12-01
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.)en
dc.description.affiliationUniv Estadual Campinas, Grp Interdisciplinar Estudos Determinacao & Difer, São Paulo, Brazil
dc.description.affiliationUniv Estadual Campinas, Dept Pediat, São Paulo, Brazil
dc.description.affiliationUniv Estadual Campinas, Ctr Biol Mol & Engn Genet, São Paulo, Brazil
dc.description.affiliationUniv Estadual Campinas, Dept Med Genet, São Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipSAE-UNICAMP
dc.description.sponsorshipIDSAE-UNICAMP: 1/8/2009-31/7/2010
dc.format.extent1431-1434
dc.identifierhttp://dx.doi.org/10.1016/j.fertnstert.2011.09.009
dc.identifier.citationFertility and Sterility. New York: Elsevier B.V., v. 96, n. 6, p. 1431-1434, 2011.
dc.identifier.doi10.1016/j.fertnstert.2011.09.009
dc.identifier.issn0015-0282
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/34243
dc.identifier.wosWOS:000298119700037
dc.language.isoeng
dc.publisherElsevier B.V.
dc.relation.ispartofFertility and Sterility
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rights.licensehttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.subjectGonadal dysgenesisen
dc.subjectdisorders of sex developmenten
dc.subjectgenesen
dc.subjectSRYen
dc.subjectgonadoblastomaen
dc.subjectdysgerminomaen
dc.titleComplete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of casesen
dc.typeinfo:eu-repo/semantics/article
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