Bilateral gonadoblastoma in a 9-month-old infant with 46,XY gonadal dysgenesis.
A 9-month-old infant with hypertrophic clitoris and separated urethral and vaginal opening was diagnosed as having 46,XY incomplete "pure gonadal dysgenesis". Examination of both gonads revealed gonadoblastoma and bilateral salpingo-gonadectomy and partial hysterectomy were performed. Patient is raised as a girl, and clitoroplasty will be done in next several months. The fact that gonadal neoplasia in our patient was found already at the age of 9 months, confirms the need for gonadectomy at the time of diagnosis in the patients with 46,XY gonadal dysgenesis.
Dumić
M
M
Department of Pediatrics, University Hospital Rebro, Zagreb, Croatia.
Jukić
S
S
Batinica
S
S
Ille
J
J
Filipović-Grcić
B
B
D002987:Clitoris / Q000473:pathology / Q000601:surgery; D004407:Dysgerminoma / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D006801:Humans; D006984:Hypertrophy; D007223:Infant