A CASE OF MIXED GONADAL-DYSGENESIS WITH 45-X 46-XY KARYOTYPE AND AORTIC COARCTATION/

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 ou r endocrinology department for evaluation of ambiguous genitalia. On p hysical 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 c hromosome karyotype of the patient was 45 X/46 XY. On the laparotomy t here was an infantile uterus, fallopian tubes, and a streak gonad on t he left. The follow-up of the patient included sex assignment, genital reconstruction and cardiovascular treatment.