Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH)

The Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a congenital condition characterized by aplasia or hypoplasia of the anatomical structures and tissues that develop from the paramesonephric ducts during embryogenesis (i.e., Müllerian ducts). Clinically, MRKH presents as aplasia or hypoplasia of the uterus, fallopian tubes, cervix, and the upper third of the vagina, and may include other congenital malformations. MRKHS is considered as a rare condition, with an incidence of 1 in ~4500 female live births (Oppelt et al. 2006; Jacquinet et al. 2016). The affected women display otherwise normal hormone levels and secondary sexual characteristics.