29: Ovotesticular disorder of sexual development: a case report

Abstract

OBJECTIVES: To present a rare case of ovotesticular disorder of sexual development (OT-DSD). MATERIALS AND METHODS: We present a 21-year-old patient with gynandromorphic genitalia and breast development diagnosed with 46,XX OT-DSD. He was raised as a male and desired correction of his feminized anatomic features. A 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. On physical examination, the patient demonstrated the presence of bilateral, symmetrical breasts and the external genitalia showed the presence of a 7 cm long penile-like structure that was immobile and adherent to the ventral aspect of a clitoral hood. A small, presumed testis within the scrotum was noted only on the right side, while the testis and scrotum were absent on the left. A perineal opening appearing to be the vaginal introitus was ultimately identified as the urethra on further investigation. Intra-operative findings included a small, boggy uterine horn and a left gonad which appeared to be a normal ovary with a dilated left fallopian tube. Bilateral ureters with efflux were identified in the normal anatomical position leading to a normal appearing bladder. In accordance with the patient's wishes, an abdominal hysterectomy, left salpingo-oophorectomy, right trans-scrotal testicular biopsies and bilateral simple mastectomy were performed. RESULTS: Histopathologic examination of the excised gonads was performed at our institution. Examination of the right trans-scrotal biopsy confirmed testicular tissue. Examination of the left-sided gonad was consistent with an ovarian tissue. Traditional cytogenetic analysis revealed 46, XX. Six months after the initial surgery, the patient underwent the second stage of gender confirmation surgery. Penile reconstructive surgery and metoidioplasty were performed by dividing the skin of the phallus/clitoris from the underlying cavernous body. The reconstruction of the penis was completed by advancing another skin flap from the left labia majora. The patient's 6-month follow-up demonstrated an uncomplicated post-operative course, living as a male. CONCLUSION: For many children with ambiguous genitalia in the developing world, it is not until puberty before problems associated with feminization become apparent. Very often, as in our case, multiple surgical procedures are necessary to fulfill the gender choice of the patient. Most patients would prefer to live as a male because of cultural bias. However, it is rare that a patient in the developing world who has been feminized or masculinized during their post-pubescent years actually find surgeons to perform gender assignment surgery. This is usually due to the absence of knowledgeable medical resources and the prohibitive cost.