Ovotesticular disorder of sex development with unusual karyotype: patient report

Ovotesticular disorder of sex development with unusual karyotype: patient report

Author Paula, Georgette Beatriz Google Scholar
Ribeiro Andrade, Juliana Gabriel Google Scholar
Guaragna-Filho, Guilherme Google Scholar
Sewaybricker, Leticia Esposito Google Scholar
Miranda, Marcio Lopes Google Scholar
Maciel-Guerra, Andrea Trevas Google Scholar
Guerra-Junior, Gil Google Scholar
Institution Universidade Estadual de Campinas (UNICAMP)
Universidade Federal de São Paulo (UNIFESP)
Abstract Background: 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.
Keywords disorders of sex development
sex of rearing
Language English
Date 2015-05-01
Published in Journal of Pediatric Endocrinology & Metabolism. Berlin: Walter de Gruyter Gmbh, v. 28, n. 5-6, p. 677-680, 2015.
ISSN 0334-018X (Sherpa/Romeo, impact factor)
Publisher Walter de Gruyter Gmbh
Extent 677-680
Origin http://dx.doi.org/10.1515/jpem-2014-0328
Access rights Closed access
Type Article
Web of Science ID WOS:000353793000029
URI http://repositorio.unifesp.br/handle/11600/39093

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