Pregnancy in a hermaphrodite with a male-predominant mosaic karyotype.

Schoenhaus, Samantha A; Lentz, Scott E; Saber, Peter; Munro, Malcom G; Kivnick, Seth

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.