Mullerian agenesis
| Mullerian agenesis | |
| ICD-10 | Q51.0, Q52.0 |
|---|---|
| ICD-9 | 626.0 |
| OMIM | 158330 |
| DiseasesDB | 8390 |
Mullerian agenesis refers to a condition in a female where the mullerian ducts fail to develop and a uterus will not be present. Primary amenorrhea is a leading symptom.
The 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.
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. Her chromosome constellation will be 46,XX. Ovulation usually occurs. 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 as the technology is still in its infancy.
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.
Other, less common symptoms include kidney problems, hearing loss, and bone malformations.
This condition must be differentiated from other diseases that cause latency in secondary sexual characteristics development, such as constitutional delay of puberty, hypopituitarism, delayed puberty, and chromosomal abnormalities. Chromosomal abnormalities are Turner's syndrome, and Noonan's syndrome.
Prevalence
The estimated prevalence is 1 in 5000 women. A genetic cause is likely (see OMIM).
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 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.
See also
References
External links
de:Mayer-Rokitansky-Küster-Hauser-Syndrom he:תסמונת רוקיטנסקי nl:Syndroom van Mayer-Rokitansky-Küster