Pregnancy in a hermaphrodite with a male-predominant mosaic karyotype

Objective To report a pregnancy in a hermaphrodite and review of the literature. Design Case report and literature review. Setting Clinical. Patient(s) A patient with male-predominant mosaic karyotype 96% 46XY. Intervention(s) Removal of left ovotestis in combination with a supracervical hysterectomy and bilateral salpingo-oophorectomy. Main Outcome Measure(s) Identification of published cases of pregnancy and hermaphroditism. Result(s) The current patient had previous pregnancy and a wedge biopsy of her left gonad, which demonstrated an ovotestis and an area suspicious for a gonadoblastoma. After delivery of her second pregnancy, the patient underwent a hysterectomy and bilateral salpingo-oophorectomy. The histopathologic evaluation following bilateral oophorectomy demonstrated a residual ovotestis without further evidence of a gonadoblastoma. Review of the literature identified 10 other cases of pregnancy in a hermaphrodite patient. Conclusion(s) This is the 11th reported case of fertility in a true hermaphrodite and only the second report of a mosaic true hermaphrodite to demonstrate fertility. This is the only case of a pregnancy involving a male-predominant mosaic 96% 46XY and the only case to confirm the genetics of the offspring.