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.

Key Words: True hermaphrodite, pregnancy