Müllerian agenesis

Müllerian agenesis is a congenital malformation in women characterised by a failure of the müllerian ducts to develop, resulting in a missing uterus and fallopian tubes and variable malformations of the upper portion of the vagina. It is the second most common cause of primary amenorrhea after gonadal failure (such as from Turner syndrome). The condition is also called MRKH or Mayer-Rokitansky-Küstner-Hauser Syndrome, named after August Franz Joseph Karl Mayer, Carl Freiherr von Rokitansky, Hermann Küstner, and G. A. Hauser.

Signs and symptoms
A woman with this condition is hormonally normal; that is, she will enter puberty with development of secondary sexual characteristics including thelarche and adrenarche (pubic hair). Her chromosome constellation will be 46,XX. Ovaries are intact and ovulation usually occurs. Typically, the vagina is shortened and intercourse may, in some cases, be difficult and painful. Medical examination supported by gynecologic ultrasonography demonstrates a complete or partial absence of the cervix, uterus, and vagina.

If 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. Treatment by uterine transplantation is still in its infancy.

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

There are two forms of MRKH. One is associated with the absence of just the vagina and uterus, while the other affects additional parts of the body, too. Of those suffering from the latter form, 40% will have kidney abnormalities (15% of these girls/women will be born with only one kidney), 10% will have hearing problems, and 10-12% will have skeletal abnormalities.

In 1988, a teenager living in the small southern African nation of Lesotho came to local doctors with all the symptoms of a woman in labor. The doctors were puzzled, however, because she did not have a vagina, only a shallow skin dimple. Doctors traced her pregnancy to a knife wound to her abdomen 278 days earlier, after she had practiced fellatio on her boyfriend. The sperm had leaked from her stomach to her abdominal cavity and fertilized one of her eggs. This case was reported by Dr. Richard Paulson, head of the University of Southern California Fertility Program in Los Angeles, February 3, 2010.

Causes
The cause of MRKH is unknown. Several genes have been tested to study the possibility of the syndrome being genetic, but no single factor has yet been identified to be responsible for it. What doctors do know is that when a fetus grows in a mother’s uterus, many systems develop, including the reproductive system (which includes the uterus, vagina, fallopian tubes, and ovaries). This system is formed during the first few months of a fetus growing in a mother’s womb. With MRKH, the reproductive system starts to develop, but it doesn’t completely finish.

Prevalence
The estimated prevalence is 1 in 5000 women. Queen Amalia of Greece was found postmortem to have had the syndrome. Her inability to provide an heir contributed to the overthrow of her husband, King Otto of Greece. Another prominent woman who suffered from the sydrome was Eva Braun.

Treatment
Although there are treatments to increase the comfort in sexual intercourse, there are none to let the woman herself become pregnant. There are plans by UK and Swedish doctors for a uterine transplant that would allow these women to carry their own child, but no transplant has yet been successful in producing a child. Since the women do have ovaries, women with this condition can have genetic children through IVF with embryo transfer to a gestational carrier. 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 has been shown to result in a vagina that is comparable to a normal vagina in patients with Müllerian agenesis. In the Vecchietti procedure, a small plastic “olive” is threaded against the vaginal area, and the threads are drawn through the vaginal skin, up through the abdomen and through the navel using laparoscopic surgery. There the threads are attached to a traction device. The operation takes about 45 minutes. The traction device is then tightened daily so the olive is pulled inwards and stretches the vagina by approximately 1 cm per day, creating a vagina approximately 7 cm deep in 7 days, although it can be more than this.

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