Mullerian Aplasia is a condition which only affects women. The main features are absence of the uterus, cervix and upper part of the vagina. The ovaries work normally and the appearance of the external genitalia is normal. Although menstruation is lacking, sexual characteristics such as breast and pubic hair development are also normal. Kidney problems may sometimes occur. The exact cause of Mullerian Aplasia is not known although there may be a genetic component in some instances. A pattern of autosomal dominant inheritance limited to females only, has been noted in some families.
Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterised by abnormalities of the genital organs in a woman, with few or no other associated problems. Problems with the genital and urinary systems range from poor formation of the upper vaginal area, to total Mullerian type features including absence of the uterus and cervix with urinary system abnormalities. In some cases, this condition may run in families, where the pattern of inheritance is autosomal recessive.