Mayer-Rokitansky-Küster-Hauser syndrome

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital condition characterized by the absence or severe underdevelopment (agenesis or aplasia) of the uterus and the upper two-thirds of the vagina in individuals who are genetically female (46,XX karyotype). It is also known as Müllerian agenesis or Müllerian aplasia. Affected individuals have normally functioning ovaries, normal external genitalia, and typical secondary sexual characteristics (breast development, pubic hair), so the condition is most commonly discovered during adolescence when menstruation fails to occur (primary amenorrhea). MRKH syndrome is classified into two types. Type I (isolated) involves only the uterovaginal aplasia. Type II (also called MURCS association — Müllerian duct aplasia, Renal dysplasia, and Cervical Somite anomalies) is associated with additional malformations, most commonly renal anomalies (such as unilateral renal agenesis, ectopic kidney, or horseshoe kidney), skeletal abnormalities (particularly vertebral defects), and less frequently cardiac or hearing defects. The reproductive system is the primary system affected, but the urinary and skeletal systems may also be involved. Although individuals with MRKH syndrome cannot carry a pregnancy without uterine transplantation, ovarian function is preserved, meaning biological motherhood may be possible through assisted reproductive technologies such as in vitro fertilization with gestational surrogacy, or increasingly through uterine transplantation, which has resulted in successful pregnancies in recent years. The primary treatment for vaginal aplasia involves the creation of a neovagina, either through non-surgical self-dilation techniques (such as the Frank method, considered first-line therapy) or through surgical vaginoplasty procedures (such as the McIndoe, Vecchietti, or Davydov techniques). Psychological support is an important component of care, as the diagnosis can have significant emotional impact on affected individuals.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Mayer-Rokitansky-Küster-Hauser syndrome