About MRKH

The earliest references to vaginal agenesis and proposed therapy can be found in Hippocrates' work on "The Nature of Women". Other references can also be found in the Roman and Greek eras. The first contemporary description was in 1781.

The description of congenital absence of the vagina with incompletely developed uterine remnants or a completely absent uterus as a specific syndrome can be traced to the work of 4 individuals. They were Mayer (1829), Rokitansky (1838), Kuster (1910) and Hauser (1961-1973).

MRKH is the second most common cause of a lack of periods in adolescent girls.

• The incidence is reported as 1:5,000 female births. Most patients present as adolescents with primary amenorrhoea (no periods) in the presence of normal secondary sexual characteristics (breasts and body hair and female genitalia).
• The cause of MRKH is difficult to establish but there is a genetic etiology, which is also not by simple inheritance. It has been described as a polygenic multifactorial inheritance. The risks of recurrence in one family with this type of inheritance, is between 1-2%. Sisters with the same condition have occurred. However, we are not aware of any relationship to diet, work, environment, chemical exposure, drugs, radiation or infections.
• Investigations reveal that there are 2 forms of MRKH. In the 1st group, the only abnormality is the congenital absence of the vagina and the uterus. In the 2nd group, it is also associated with other anomalies.

These include:
Renal Tract (kidneys to bladder) = 40%
These include an absent kidney, unilateral horseshoe kidney, pelvic kidneys and abnormality of the collecting systems.

Skeletal (bones) = 10 -12 %
This primarily involves the cervical and lumbar vertebrae and the hand.

Hearing = 10%
Hearing loss of some degree is attributed to a congenital origin, in MRKH patients.

Patients typically have a 46XX chromosome pattern ie a normal female pattern.

• There is normal breast development, body proportions, body hair and external genitalia (ie the external appearance is normal).
  
  The ovaries are normal although placed nearer the sides of the pelvis and they have normal function.
• They produce cyclical hormones and release eggs. The egg dissolves if it is not fertilised, as is the situation for the vast majority of women who do have periods and do not conceive.
• There may be a variable amount of uterine and fallopian tube tissue present but usually this is not enough to be functional.

The management of these patients falls into two distinct areas. The management of the congenital anatomical abnormality, with the need to be sexually active and the psychological blow, that they have no vagina and no uterus.

It is difficult to measure the emotional trauma that these patients have when they find out that they have no vagina and no uterus. The patient normally finds out when she is between the age of 14 - 16years. After the initial shock, she may have feelings of depression, anger and isolation. Many patients have described themselves as "freaks" and they get confused over their gender identity and start questioning their role as a female. They, not only have to deal with the difficulty of having sex but more importantly, even at this young age, many of these patients find infertility the most difficult to accept.

Parents are also emotionally traumatised They feel guilty for not finding out or doing anything sooner and many mothers blame themselves for causing this abnormality to their daughters amidst the sense of loss and their concerns for their daughters' well-being in the future.

Since 1968, there was reference made for the need of psychological support and counselling for these patients and their parents. Psychotherapists have shown the importance of counselling and psychological support as being a vital part of the management of these patients. In the last 10years, we have seen a greater emphasis on the importance of psychological support for MRKH patients. The role of psychologists, counsellors and patient support groups are very much the common feature of the management of these patients.