Müllerian aplasia

Müllerian aplasia, also known as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is a congenital malformation characterized by a failure of the Müllerian ducts to develop, resulting in a missing uterus and varying degrees of vaginal hypoplasia of its upper portion. Müllerian aplasia is a type of Müllerian duct anomaly which is a group of congenital disorders resulting from an abnormal development of the Müllerian ducts.

Etiology[edit | edit source]

The exact cause of Müllerian aplasia is unknown. However, it is believed to be a multifactorial condition, involving both genetic and environmental factors. Some studies suggest a possible autosomal dominant mode of inheritance with incomplete penetrance and variable expressivity.

Clinical Presentation[edit | edit source]

Women with Müllerian aplasia are typically diagnosed during adolescence when they fail to start menstruating (amenorrhea). Despite the absence of menstruation, these women have normal development of secondary sexual characteristics such as breast development and pubic hair growth because the ovaries are typically normal and functional. Other symptoms may include cyclic abdominal pain and difficulties with sexual intercourse due to vaginal hypoplasia.

Diagnosis[edit | edit source]

The diagnosis of Müllerian aplasia is usually made based on the clinical presentation and confirmed by imaging studies such as ultrasound, magnetic resonance imaging (MRI) or laparoscopy. Genetic testing may also be performed to identify any associated genetic abnormalities.

Treatment[edit | edit source]

The treatment of Müllerian aplasia is primarily focused on addressing the symptoms and improving the quality of life. This may include hormonal therapy to induce menstruation, surgical procedures to create a neovagina, and psychological counseling to address the emotional impact of the condition. Women with Müllerian aplasia are unable to carry a pregnancy, but they may be able to have children through surrogacy or adoption.