A Case of Mixed Gonadal Dysgenesis With 45X/46XY Karyotype and Patent Ductus Arteriosus / 대한비뇨기과학회지

ABSTRACT

Mixed gonadal dysgenesis (MGD) with 45X/XY karyotype and patent ductus arteriosus (PDA) is a rare congenital abnormality. A thirty eight month-old male patient was admitted to our urology department for evaluation of ambiguous genitalia. On physical examination, a ptosis, a wide neck with a low posterior hairline, small phallus, testis in the right labioscrotal fold, urethral opening on the penoscrotal junction, and typical findings of patent ductus arteriosus were present. The chromosome karyotype of the patient was 45X/XY. On the laparotomy there were infantile fallopian tubes, ovary and a immature testis on the left. The treatment of the patien1 included gender identity. excision of mullerian structure, left gonadectomy, urethroplasty, biopsy of right testis and double ligation of PDA. We report a case of mixed gonadal dysgenesis with 45X/XY karyotype and patent ductus arteriosus.