Gender Affirmation Surgery for a Delayed Diagnosis of Ovotesticular Disorder of Sexual Development: A Case Report

Background: Ovotesticular disorder of sexual development (OT-DSD) is a rare condition characterized by abnormal gonadal development. Although most OT-DSD is diagnosed during infancy, diagnosis is often delayed or never made in countries with limited resources. Case: A 21-year-old Haitian male presented with gynandromorphic genitalia and breast development, and desired surgical correction of his feminized anatomic features. Physical examination revealed bilateral symmetrical breasts. External genitalia revealed a 7 cm penile-like structure adherent to the ventral aspect of the clitoral hood. A small presumed testis within the scrotum was noted on the right side, whereas the testis and scrotum were absent on the left. Computer tomography of the abdomen and pelvis demonstrated normal kidneys, bilateral ureters, a uterine horn, an intra-abdominal gonad on the left, a descended gonad on the right, and a structure consistent with a vagina. Results: He underwent gender affirmation surgery in two stages: first, an abdominal hysterectomy, left salpingo-oophorectomy, right trans-scrotal testicular biopsies, and bilateral simple mastectomy, then penile reconstruction and metoidioplasty. The right trans-scrotal biopsy confirmed testicular tissue and left-sided gonad was consistent with ovarian tissue. Traditional cytogenetic analysis revealed 46, XX karyotype. His postoperative course was uncomplicated and 6-month follow-up demonstrated an excellent surgical outcome. Conclusion: Gender affirmation surgery can improve the quality of life of patients who are diagnosed with OT-DSD after puberty. However, access to care continues to be a problem in resource-poor settings and is a major limitation in the treatment.