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Paula GB, Ribeiro Andrade JG, Guaragna-Filho G, et al. Ovotesticular disorder of sex development with unusual karyotype: patient report. J Pediatr Endocrinol Metab. 2015;28(5):677-80doi: 10.1515/jpem-2014-0328.
Paula, G. B., Ribeiro Andrade, J. G., Guaragna-Filho, G., Sewaybricker, L. E., Miranda, M. L., Maciel-Guerra, A. T., & Guerra-Júnior, G. (2015). Ovotesticular disorder of sex development with unusual karyotype: patient report. Journal of pediatric endocrinology & metabolism : JPEM, 28(5), 677-80. https://doi.org/10.1515/jpem-2014-0328
Paula, Georgette Beatriz, et al. "Ovotesticular disorder of sex development with unusual karyotype: patient report." Journal of pediatric endocrinology & metabolism : JPEM vol. 28,5 (2015): 677-80. doi: https://doi.org/10.1515/jpem-2014-0328
Paula GB, Ribeiro Andrade JG, Guaragna-Filho G, Sewaybricker LE, Miranda ML, Maciel-Guerra AT, Guerra-Júnior G. Ovotesticular disorder of sex development with unusual karyotype: patient report. J Pediatr Endocrinol Metab. 2015 May;28(5):677-80. doi: 10.1515/jpem-2014-0328. PMID: 25514326.
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J Pediatr Endocrinol Metab. 2015 May;28(5):677-80. doi: 10.1515/jpem-2014-0328.

Ovotesticular disorder of sex development with unusual karyotype: patient report.

Journal of pediatric endocrinology & metabolism : JPEM

Georgette Beatriz Paula, Juliana Gabriel Ribeiro Andrade, Guilherme Guaragna-Filho, Letícia Esposito Sewaybricker, Márcio Lopes Miranda, Andréa Trevas Maciel-Guerra, Gil Guerra-Júnior

PMID: 25514326 DOI: 10.1515/jpem-2014-0328

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.

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