Ovotesticular disorder of sex development with unusual karyotype: patient report

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dc.contributor.authorPaula, Georgette Beatriz
dc.contributor.authorRibeiro Andrade, Juliana Gabriel
dc.contributor.authorGuaragna-Filho, Guilherme
dc.contributor.authorSewaybricker, Leticia Esposito
dc.contributor.authorMiranda, Marcio Lopes
dc.contributor.authorMaciel-Guerra, Andrea Trevas
dc.contributor.authorGuerra-Junior, Gil
dc.contributor.institutionUniversidade Estadual de Campinas (UNICAMP)
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2016-01-24T14:40:30Z
dc.date.available2016-01-24T14:40:30Z
dc.date.issued2015-05-01
dc.description.abstractBackground: Ovotesticular disorder of sex development (OT-DSD) (true hermaphroditism) is an anatomopathological diagnosis based on the findings of testicular and ovarian tissues in the same subject, in the same gonad (ovotestis), or in separate gonads. OT-DSD is a rare cause of sex ambiguity, and the most common karyotype is 46, XX; mosaics and chimeras are found only in 10%-20%.Aim: To report a case of an OT-DSD patient with a rare karyotype constitution.Case report: A 2-month-old child with male sex assignment was referred to our clinic for investigation of sex ambiguity. He was the second child of healthy unrelated parents; pregnancy and labor were uneventful. On physical examination, he had a 2.3-cm phallus and perineal hypospadias (Prader grade III); the right gonad was in the labioscrotal fold and the left was found in the inguinal channel. Karyotype was 46,XX/47,XXY/48,XXYY. Anatomopathological examination of gonads revealed right testis and left ovotestis. the male sex assignment was maintained; the child underwent left gonadectomy, removal of Mullerian structures and urethroplasty.Conclusion: A thorough revision of literature revealed a single case of OT-DSD with the same chromosome constitution. Gonadal biopsy is necessary to establish diagnosis in cases of sex chromosome mosaicism.en
dc.description.affiliationUniv Estadual Campinas, FCM, Dept Pediat, BR-13083887 Campinas, SP, Brazil
dc.description.affiliationUniv Estadual Campinas, UNICAMP, Program Child & Adolescent Hlth, Sch Med Sci,Dept Pediat,Unit Pediat Endocrinol, Campinas, SP, Brazil
dc.description.affiliationUniv Estadual Campinas, UNICAMP, Interdisciplinary Grp Study Sex Determinat & Diff, Campinas, SP, Brazil
dc.description.affiliationUniv Estadual Campinas, UNICAMP, Sch Med Sci, Dept Surg,Div Pediat Surg, Campinas, SP, Brazil
dc.description.affiliationUniv Estadual Campinas, UNICAMP, Dept Med Genet, Sch Med Sci, Campinas, SP, Brazil
dc.description.affiliationUniv Estadual Campinas, UNICAMP, Sch Med Sci, Dept Pediat,Unit Pediat Endocrinol, Campinas, SP, Brazil
dc.description.sourceWeb of Science
dc.format.extent677-680
dc.identifierhttp://dx.doi.org/10.1515/jpem-2014-0328
dc.identifier.citationJournal of Pediatric Endocrinology & Metabolism. Berlin: Walter de Gruyter Gmbh, v. 28, n. 5-6, p. 677-680, 2015.
dc.identifier.doi10.1515/jpem-2014-0328
dc.identifier.issn0334-018X
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/39093
dc.identifier.wosWOS:000353793000029
dc.language.isoeng
dc.publisherWalter de Gruyter Gmbh
dc.relation.ispartofJournal of Pediatric Endocrinology & Metabolism
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectdisorders of sex developmenten
dc.subjecthermaphroditeen
dc.subjectkaryotypeen
dc.subjectovotesticularen
dc.subjectsex of rearingen
dc.titleOvotesticular disorder of sex development with unusual karyotype: patient reporten
dc.typeinfo:eu-repo/semantics/article
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