Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is primarily associated with abnormal development of the female reproductive system.
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.
Women with MRKH syndrome do have normal, functioning ovaries and can 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.
Some of the clinical features and symptoms of MRKH syndrome include:
- Primary amenorrhea or absence of periods during puberty
- Normal development of sexual characteristics such as breasts and pubic hair
- Normal external genitalia
- Normal chromosomal patterns seen on karyotyping
- Functioning ovaries with normal levels of estrogen
- Reduced vaginal depth, of around 2 to 7 cm.
- In MRKH type 1 syndrome, only the uterus and upper vagina are abnormal and the fallopian tubes are unaffected. In type II MRKH syndrome, the abnormal development of the uterus and vagina may be accompanied by defects in the fallopian tubes as well as the kidneys and spine. People affected by MRKH type 2 may also suffer from impaired hearing.
- Less commonly, heart defects are also seen and examples include aorto-pulmonary window, atrial septal defect and pulmonary valvular stenosis.