ESPU Congress 2018 - Abstract Book

24 29 th CONGRESS OF THE ESPU 14:02–14:04 S2-2 (CP) THE OVULATING TESTICLE Martin KAEFER  1 , Joshua ROTH  1 , Richard RINK  1 and Erica EUGSTER  2 1) Indiana University School of Medicine, Pediatric Urology, Indianapolis, USA - 2) Indiana University School of Medicine, Pediatric Endocrinology, Indianapolis, USA PURPOSE Ovotesticular Disorder of Sexual Development (DSD) is rare, occurring in approximately 5 % of all cases of DSD. It typically presents in early childhood with ambiguous genitalia. We present a 17-year-old phenotypic male with previously diagnosed ovotesticular DSD who presented with a painless cystic testicular mass that was fluctuating in size and represented unrecognized ovarian tissue. MATERIAL AND METHODS A term infant was born with penoscrotal hypospadias and a right undescended testicle. Ultrasound identified a normal appearing left testis. At 12 months diagnostic laparoscopy revealed a right intraabdominal gonad. Deep longitudinal biopsies revealed normal ovarian tissue on the right and normal testis on the left. The family elected to continue to raise the child as male and the ovary was removed. Following later hypspadias repair the child was discharged from the urology clinic (age 5). RESULTS The patient returned at age 17 with complaints of a painless scrotal mass which had developed over a 2 week period. Development was Tanner Stage V. There was a mass on the superior aspect of the left testicle. His testosterone level was 500 ng/dL. An ultrasound demonstrated a 2.3 cm cystic lesion in the superior portion of the testicle with compressed testicular parenchyma along the margins of the cystic lesion. AFP and bHCG were both normal. The patient was scheduled for surgery and on the day of presentation he reported the mass had decreased in size. A partial orchiectomy was performed with the help of intraoperative ultrasound. Pathology demonstrated normal ovarian tissue. CONCLUSIONS Patients with Ovotesticular DSD present with a spectrum of histologic and karyotypic findings. Careful documentation of gonadal histology with longitudinal biopsies is critical to informed gender assignment and management of retained gonadal tissue. Our case underscores the potential inacuracies of gonadal biopsies and the need for continued vigilance of gonadal tissue as patients mature through puberty.