Mullerian agenesis - MRKH , infertility and surrogacy

Mullerian agenesis refers to a condition in a woman where the uterus is absent from birth. This is a birth defect , but is only diagnosed when she fails to get her periods on attaining puberty . This is called primary amenorrhea.

Normally, the uterus develops in uterus from embryological structures called mullerian ducts . When these fail to develop in utero, the baby girl is born without a uterus . This causes no symptoms or signs in the child, who looks and behaves like a completely normal girl. It’s only when the periods do not come that this diagnosis is made. This can be a rude shock to an emotionally vulnerable teenager, and can cause enormous frustration and resentment.

This defect occurs usually because of a random birth defect – not because of anything anyone did or did not do, so please do not blame yourself – or your mother !

This condition is also called MRKH or Mayer-Rokitansky-Küster-Hauser Syndrome, named after August Franz Joseph Karl Mayer, Carl Freiherr von Rokitansky, Hermann Küster, and G.A.Hauser.

Because girls with Mullerian agenesis are hormonally normal, they will develop all the secondary sexual characteristics of puberty, including thelarche ( breast development) and adrenarche ( pubic hair growth), but they will not have periods. The chromosomes are normal - 46,XX. Typically, the vagina is shortened and intercourse will be difficult and painful. Medical examination supported by gynecologic ultrasonography demonstrates a complete or partial absence of the cervix, uterus, and vagina.

Since there is no uterus, women with MRKH cannot carry a pregnancy. However, it is possible for these women to have genetic offspring by in vitro fertilisation (IVF) and surrogacy. Uterine transplantation is currently not a treatment that can be offered.

Women with MRKH typically discover the condition when, during puberty years, the menstrual cycle does not start. Some women find out earlier through surgeries for other conditions, such as a hernia.

Although there are treatments to increase the comfort in sexual intercourse, there are none to let the woman herself become pregnant. Some women also choose to adopt.

It may be necessary to use vaginal dilators or surgery to develop a functioning vagina to allow for satisfactory sexual intercourse. A number of surgical approaches have been used. In the McIndoe procedure a skin graft is applied to form an artificial vagina. After the surgery, dilators are still necessary to prevent vaginal stenosis. The Vecchietti procedure is a laparoscopic procedure that has been shown to result in a vagina that is comparable to a normal vagina in patients with Mullerian agenesis.

Emotional help is available in various support groups across the internet. With the internet and these support groups, women with MRKH feel less like they do not belong, and are able to deal with the syndrome with more confidence and security. Useful websites include: www.mrkh.org; and www.mrkhstories.com