A case of mixed gonadal dysgenesis with 45 X/46 XY karyotype and aortic coarctation

Buyukgebiz A., ÖREN H., Unsal E., Akcoral A., Ozen E., Sakizli M.

Journal of Pediatric Endocrinology, cilt.6, sa.2, ss.191-196, 1993 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 6 Sayı: 2
  • Basım Tarihi: 1993
  • Dergi Adı: Journal of Pediatric Endocrinology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.191-196
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

We report a case of mixed gonadal dysgenesis with 45 X/46 XY karyotype and aortic coarctation. An eight month-old patient was admitted to our endocrinology department for evaluation of ambiguous genitalia. On physical examination, a wide neck with a low posterior hairline, bifid scrotum, small phallus, testis in the right labioscrotal fold, single orifice and typical findings of aortic coarctation were present. The chromosome karyotype of the patient was 45 X/46 XY. On the laparotomy there was an infantile uterus, fallopian tubes, and a streak gonad on the left. The follow-up of the patient included sex assignment, genital reconstruction and cardiovascular treatment.