title: Ovotesticular disorder of sex development with unusual karyotype: patient report.
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%.
  
  
  OBJECTIVE
  To report a case of an OT-DSD patient with a rare karyotype constitution.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.forename: Georgette Beatriz
authors.initials: GB
authors.lastname: Paula
authors.forename: Juliana Gabriel
authors.initials: JG
authors.lastname: Ribeiro Andrade
authors.forename: Guilherme
authors.initials: G
authors.lastname: Guaragna-Filho
authors.forename: Letícia Esposito
authors.initials: LE
authors.lastname: Sewaybricker
authors.forename: Márcio Lopes
authors.initials: ML
authors.lastname: Miranda
authors.forename: Andréa Trevas
authors.initials: AT
authors.lastname: Maciel-Guerra
authors.forename: Gil
authors.initials: G
authors.lastname: Guerra-Júnior
mesh_terms: D005260:Female; D006801:Humans; D007231:Infant, Newborn; D059785:Karyotype; D008297:Male; D050090:Ovotesticular Disorders of Sex Development / Q000235:genetics*