Mayer-Rokitansky-Küster-Hauser syndrome type 2

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, also known as MURCS association (Müllerian duct aplasia, Renal aplasia, and Cervicothoracic Somite dysplasia), is a rare congenital condition primarily affecting females. It is characterized by the absence or severe underdevelopment of the uterus and upper two-thirds of the vagina (Müllerian duct aplasia), combined with additional malformations involving other organ systems. Unlike MRKH type 1, which is an isolated finding of uterovaginal aplasia, type 2 involves extragenital anomalies including renal defects (such as unilateral renal agenesis, ectopic kidney, or horseshoe kidney), skeletal abnormalities (particularly affecting the cervical and thoracic vertebrae, such as fused vertebrae, scoliosis, or Klippel-Feil anomaly), and occasionally hearing defects or cardiac malformations. Affected individuals typically have a normal female karyotype (46,XX), normal external genitalia, and normal ovarian function, meaning secondary sexual characteristics such as breast development and pubic hair develop normally at puberty. The condition is most commonly diagnosed during adolescence when affected individuals present with primary amenorrhea (absence of menstruation) despite otherwise normal pubertal development. Because the ovaries function normally, hormonal profiles are typically within normal range. Treatment focuses on enabling vaginal function and addressing associated malformations. Vaginal creation can be achieved through non-surgical dilation techniques (such as the Frank method), which are considered first-line therapy, or through surgical vaginoplasty procedures (such as the Vecchietti or McIndoe techniques) when dilation is unsuccessful. Fertility options have expanded with uterine transplantation emerging as an experimental but increasingly successful approach, while gestational surrogacy remains an established alternative. Management of renal, skeletal, cardiac, and auditory anomalies requires a multidisciplinary approach with appropriate specialist involvement.

Common questions about Mayer-Rokitansky-Küster-Hauser syndrome type 2