An unusual case of ambiguous genitalia

Abstract

Introduction: Mixed gonadal dysgenesis is most commonly associated with a mosaic 45X/46XY karyotype. The clinical phenotype may range from almost complete female or male external genitalia to ambiguous genitalia. The internal genitalia may be composed of dysgenetic testis on one side and a streak gonad on the contralateral side, however there can be varying configurations as well. The uterus and fallopian tubes are generally ipsilateral to the streak gonad and these retained Mullerian remnants are common. The presence of 45X may present with Turner like features including cardiac, renal anomalies and short stature. Case Report: We describe a case of ambiguous genitalia secondary to mixed gonadal dysgenesis where the sex assignment was made before the final diagnosis was reached. Conclusion: The diagnosis of mixed gonadal dysgenesis can be difficult for families. A multidisciplinary approach must be established for the patient and family while incorporating the psychosocial aspects also.