Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital syndrome that affects the reproductive system in females.
Women who suffer from the condition either have an underdeveloped vagina and uterus or these structures are absent altogether. In the majority of cases, affected women do not have periods and a lack of menstruation by age 16 is often the first symptom of the condition.
Other names for MRKH syndrome include congenital absence of the uterus and vagina (CAUV), genital renal ear syndrome (GRES), Müllerian aplasia and Müllerian dysgenesis.
Women with MRKH syndrome do have normal, functioning ovaries and may still have children with the help of assisted reproduction. Affected females also have normal external genitalia and sexual characteristics but other defects may be present such as underdeveloped kidneys, skeletal abnormalities and impaired hearing.
MRKH syndrome affects around one in 4500 newborn females.
Cause and pathology
Normally, each female individual has 23 pairs of chromosomes, including a pair of X chromosomes, giving 44 somatic chromosomes and two sex chromosomes (XX).
Females with MRKH syndrome also possess this normal chromosomal pattern. The condition is suspected to arise from a combination of genetic and environmental factors, although no genes associated with the condition have yet been identified.
The reproductive defects seen with this condition are thought to arise from incomplete development of the Müllerian duct. In an embryo, it is this structure that becomes the uterus, fallopian tubes, cervix, and the upper part of the vagina. However, it is not known what causes the abnormal development of this structure.
Reviewed by Sally Robertson, BSc