n.
Congenital absence of the vagina or presence of a short vaginal pouch and absence of the uterus but with normal ovaries. Also called Rokitansky-Küster-Hauser syndrome.
Müllerian agenesis
| Medical Dictionary: May·er-Rokitansky-Küs·ter-Hau·ser syndrome |
| Wikipedia: Müllerian agenesis |
| Müllerian agenesis | |
|---|---|
| Classification and external resources | |
| ICD-10 | Q51.0, Q52.0 |
| ICD-9 | 626.0 |
| OMIM | 158330 |
| DiseasesDB | 8390 |
Müllerian agenesis is a congenital malformation in women characterised by a failure of the Müllerian ducts to develop, resulting in a missing uterus and variable malformations of the vagina. It is the second most common cause of primary amenorrhea. 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.
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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 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. 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. Renal anomalies occur in 25-35% of females with mullerian agenesis.
Prevalence
The estimated prevalence is 1 in 5000 women.
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[1] 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 Müllerian agenesis.[2][3]
Emotional help is available in various support groups across the internet.
See also
References
- ^ S. Saraf; P. Saraf (2007). "McIndoe Vaginoplasty: Revisited". The Internet Journal of Gynecology and Obstetrics (Internet Scientific Publications) 6 (2). ISSN 1528-8439. http://www.ispub.com/journal/the_internet_journal_of_gynecology_and_obstetrics/volume_6_number_2_6/article/mcindoe_vaginoplasty_revisited.html. Retrieved 2009-07-17.
- ^ Vecchietti G (1965). "[Creation of an artificial vagina in Rokitansky-Küster-Hauser syndrome]" (in Italian). Attual Ostet Ginecol 11 (2): 131–47. PMID 5319813.
- ^ Fedele L, Bianchi S, Tozzi L, Borruto F, Vignali M (1996). "A new laparoscopic procedure for creation of a neovagina in Mayer-Rokitansky-Kuster-Hauser syndrome". Fertil. Steril. 66 (5): 854–7. PMID 8893702.
External links
- Online 'Mendelian Inheritance in Man' (OMIM) 277000
- MRKH Organization
- MRKH UK
- The National Centre for Adolescent and Adult Females with Congenital Abnormalities of the Genital Tract (UK)
- MRKH Support
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