Mayer-Rokitansky-Küster-Hauser syndrome associated with unilateral gonadal agenesis. A case report

Mayer-Rokitansky-Küster-Hauser syndrome is the second most frequent cause of primary amenorrhea, with a reported incidence of 0.002%. Patients have a normal karyo-type and usually normal ovaries. Associated ovarian abnormalities are rarely reported.

A 17-year-old woman with primary amenorrhea was evaluated by diagnostic laparoscopy, which showed complete müllerian agenesis. On the left side, the uterine tube and round ligament were hypoplastic, and the ovary was absent. The karyotype was 46, XX. Intravenous urography revealed a right kidney below the normal site with malrotation abnormality.

Müllerian duct agenesis coexisting with unilateral ovarian agenesis and a contralateral renal abnormality has not been widely described before. Unilaterality might play a role in the etiologic factor of Mayer-Rokitansky-Küster-Hauser syndrome.