A Case of Mayer-Rokitansky-Küster-Hauser Syndrome with Coexisting Gonadal Dysgenesis

Document Type : Case Report

Abstract

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder characterized by agenesis or aplasia of the uterus and upper part of the vagina in a phenotypically and karyotypically normal female (46,XX). Patients present with primary amenorrhea and normal secondary sexual characteristics. Ovarian anomalies with MRKH are rare and only found in ~ 5–10% of cases (21 reported cases). These patients present with both primary amenorrhea and absent secondary sexual characteristics.