Ovotesticular disorder of sex development with unusual karyotype: patient report
Data
2015-05-01
Tipo
Artigo
Título da Revista
ISSN da Revista
Título de Volume
Resumo
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.
Descrição
Citação
Journal of Pediatric Endocrinology & Metabolism. Berlin: Walter de Gruyter Gmbh, v. 28, n. 5-6, p. 677-680, 2015.