OBJECTIVE: Ovotesticular disorder of sex development (OT-DSD) is one of the rarest variey of all inter sex anomalies in which the gonads of an individual are characterized by the presence of both mature ovarian and testicular tissues. In about 90% of cases, patients have 46 XX karyotype, rarely, 46 XY mosaicisme may occur. This study to describe a rare case about 46 XY ovotesticular disorder of sex development.
CASE: We report a 11 year old patient 46 XY ovotesticular disorder of sex development who presented in Pediatrics Department of Syaiful Anwar General Hospital Malang. This child was reared as male and chief complain abnormality the shape of the genitals since he was born. Physical examination found In the genitals, the phallus structure is obtained with a cleft like the vagina under the phallus. Scrotum was not found with prader stage III. Ultrasound report showed that left testicle at left inguinal, but right testicle was not found. We also got organ similiar to uterus with hematometra, but not found ovarium dextra and sinistra. Testosterone level was <0,025 microgram/dl (normal value 2,8-8,0), Progesteron level was 0,19 (normal value 0,2-1,4). Karyotyping was 46 XY, on metaphase phase we did not found abnormality numerical and chromosomal structural. Biopsy showed that right gonad was Ovarium with Fimbrae Dextra and left gonad was testis Sinistra that support True Hermaphrodite.
CONCLUSSION: Considering that clinical manifestation, ultrasound report and biopsy result, a diagnosis of 46 XY Ovotesticular disorder of sex development was made.