ESPE Abstracts

Introduction: Individuals with ovotesticular disorders of sexual development (OT-DSD) have both seminiferous tubules and ovarian follicles. The combination of gonads could be separated (ovary-testis), unilateral (ovotestis-ovary or ovotestis-testis), or bilateral (ovotestis-ovotestis). The last one is the rarest variant (24.5%). In 60% of cases, the karyotype is 46, XX.

Case Report: 15-year-old, monochorionic-monoamniotic, Prader IV, male phenotype twins.

• Twin 1 Hypospadias with two correction surgeries performed during the first year of life. At 15y, he began multiple monthly episodes of alternating right and left testicular painful swelling. Ultrasound confirmed scrotal hematocele and small for-age “testicles”. These episodes were interpreted as an acute scrotal syndrome. Six months later, a testicular biopsy was performed documenting an area with interrupted spermatogenesis and a fragment of the corpus luteum. Lab work revealed hypergonadotropic hypogonadism. Genetically he was 46, XX, and SRY-negative. Bilateral excision of the ovarian tissue and Müllerian remnants was performed, and testosterone was started.

• Twin 2 Hypospadias with three correction surgeries during the first year of life. At 8y, just before the closure of urethral fistulas, an ultrasound scan documented small for-age “testicles”: the right one in the scrotum and the left one in the inguinal canal. Gynecomastia was detected at 13y. At 15y, after his brother's diagnosis, a scrotal ultrasound was performed followed by a left orchidectomy due to the risk of neoplasia. Similarly, an ovotestis was identified. After analysis and karyotype matching those of his brother, he underwent excision of the right ovarian tissue and Müllerian remnants, with a succeeding start of testosterone.

Discussion: The diagnosis of OT-DSD in adolescence is very rare and clinics depend on the underlying karyotype. In male phenotype individuals, the most frequent hints are gynecomastia and recurrent hematuria. In the reported cases, hypospadias was the first sign of sexual ambiguity. However, diagnostic suspicion arose only when there were female pubertal manifestations: breast enlargement and acute scrotum secondary to ovulation. Despite the possibility of oogenesis, the testicular component of ovotestis spermatogenesis is often compromised. On the other hand, as there is a risk of gonadoblastoma and dysgerminoma development, prophylactic gonadectomy should be performed.