Background: Ovotesticular Disorder of Sex Development (OTDSD true hermaphroditism) is rare, characterized by the presence of both presence of both testis and ovay tissue. Usually, these patients seek medical attention due to ambiguous genitalia.
Case presentation: A 15-year-old boy, with atypical genitalia and breast enlargement came for surgical correction. His genitalia had a more masculine aspect at birth and he had been submitted to six corrective surgeries. Karyotype is 46, XX(20). His complaint was recurrent episodes of painful testicular swelling and gynecomastia for the last five years. Tanner stage G4P3 and breast enlargement (T4), hyperpigmentedscrotum fused with palpable gonads and a penis 6 cm long with distal hypospadia. Lab work-up: Estradiol=73.4 pg/ml (<20), Pubertal LH and FSH levels. Testosterone=156 ng/dl. Ultrasound revealed testes with microlitiasis, bilateral hydrocele and cysts in the left testis. A structure which could resemble a rudimentary uterus or vaginal fornix was also shown. Bilateral mastectomy and a laparoscopy was performed in order to explore the gonads, which turned out to be ovotestis. The left gonad was totally excised, whereas inthe right one, the macroscopic testis component was preserved.
Conclusion: In OT DSD, the ovarian portion of the gonad in the scrotum may enlarge during the ovulatory phase, which may be misdiagnosed as orchitis, but the cyclical nature of the episodes should raise the possibility of ovarian tissue present in the gonad. In the ovotestis, the testicular component may be dysgenetic, opposing to the usual normal function of the ovarian portion, which favors the maintenance of the ovarian portion when possible. In our patient, the social male gender was well established therefore testicular tissue was preserved. The possibility of neoplastic degeneration is minimized once Y chromosome was not present but follow-up is mandatory, with the dosage of markers of malignization.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology