MIXED GONADAL DYSGENESIS IN A SEVEN MONTH OLD BABY

ABSTRACT Mixed gonadal dysgenesis is a very rare case with genital ambiguity as a clinical manifestation. Diagnosis of this condition is emerging due to proper gender assignment and prompt treatment to achieve optimal physical and psychologic development. We reported a genital ambigous in a 7 month old baby, who was referred with enlargement of clitoris, an unpalpable testis, but with a high concentration testosteron serum level, an uterus from genitography, and a mosaic karyotype 45,X/ 46,XY. The working diagnosis of this baby is mixed gonadal dysgenesis. Patients is being evaluated by a multidisciplinary team and planned having laparoscopy