Abstract 38: Ovotesticular disorder of sex development with unusual karyotype: Case report

Introduction: OT-DSD is a rare subset of DSD with phenotypic variability characterized by the presence of both well-developed testis with seminiferous tubules and ovarian tissue with primordial follicles in the same individual which may coexist in the same gonad (ovotestis) or independently. It occurs between 3 and 10% of the total DSD. Index Case: 5-year-old male child presented in Endocrinology OPD with penoscrotalhypospadiasis, absent testes in scrotal sac with presence of urethra at base of the phallus and ill formed scrotum. No history suggestive of salt wasting crisis or darkening of skin. Genital examination revealed a phallus-like structure measuring 4 cm, bifid scrotum with rugae, urethral opening at perineum, no vaginal opening, and no palpable gonads/ inguinal hernias/gynaecomastia, EMS: 5/12, BP: 110/80 mm Hg. Serum electrolyte were normal, Serum Cortisol: 10.4 mcg/dl, Serum LH and testosterone were prepubertal, 17 hydroxy progesterone: 5.14 ng/ml, Serum AMH: 1.14 ng/ml, Serum Estradiol – 38.7 pg/ml. Ultrasonography revealed a normal appearing uterus 22 x 8 cm, vagina with a blind distal end, bilateral testes like structure was noted in inguinal, bilateral corpora cavernosavisualised; bilateral streak ovaries noted confirmed by MRI whole abdomen pelvis. HCG stimulation test was done with serum testosterone increasing to 154 ng/dl suggestive of functional testicular tissue. Karyotype report revealing mosaic 46 X+mar [17] / 47 XY mar [17] / 45 XO / 46 XY with a positive fluorescence in situ hybridization (FISH) for sex-determining region Y (SRY). The patient underwent an exploratory laparoscopy and biopsy of gonadal tissue taken; report awaited at the time of submission of this case study. Discussion: OT-DSD presents with great phenotypic variability, which influences decisions about gender assignment and counseling about genital and gonadal surgery. Decisions about gonadal surgery are driven primarily by concerns for gonadal malignancy. Conservative therapy, whenever feasible, is desirable because these individuals may maintain endocrine gonadal function and perhaps fertility.