Mullerian agenesis

(Redirected from Rokitansky syndrome)
Jump to: navigation, search
Mullerian agenesis
ICD-10 Q51.0, Q52.0
ICD-9 626.0
OMIM 158330
DiseasesDB 8390

WikiDoc Resources for

Mullerian agenesis

Articles

Most recent articles on Mullerian agenesis

Most cited articles on Mullerian agenesis

Review articles on Mullerian agenesis

Articles on Mullerian agenesis in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Mullerian agenesis

Images of Mullerian agenesis

Photos of Mullerian agenesis

Podcasts & MP3s on Mullerian agenesis

Videos on Mullerian agenesis

Evidence Based Medicine

Cochrane Collaboration on Mullerian agenesis

Bandolier on Mullerian agenesis

TRIP on Mullerian agenesis

Clinical Trials

Ongoing Trials on Mullerian agenesis at Clinical Trials.gov

Trial results on Mullerian agenesis

Clinical Trials on Mullerian agenesis at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Mullerian agenesis

NICE Guidance on Mullerian agenesis

NHS PRODIGY Guidance

FDA on Mullerian agenesis

CDC on Mullerian agenesis

Books

Books on Mullerian agenesis

News

Mullerian agenesis in the news

Be alerted to news on Mullerian agenesis

News trends on Mullerian agenesis

Commentary

Blogs on Mullerian agenesis

Definitions

Definitions of Mullerian agenesis

Patient Resources / Community

Patient resources on Mullerian agenesis

Discussion groups on Mullerian agenesis

Patient Handouts on Mullerian agenesis

Directions to Hospitals Treating Mullerian agenesis

Risk calculators and risk factors for Mullerian agenesis

Healthcare Provider Resources

Symptoms of Mullerian agenesis

Causes & Risk Factors for Mullerian agenesis

Diagnostic studies for Mullerian agenesis

Treatment of Mullerian agenesis

Continuing Medical Education (CME)

CME Programs on Mullerian agenesis

International

Mullerian agenesis en Espanol

Mullerian agenesis en Francais

Business

Mullerian agenesis in the Marketplace

Patents on Mullerian agenesis

Experimental / Informatics

List of terms related to Mullerian agenesis


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.

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.[1][2]

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

  1. Vecchietti G.Creation of an artificial vagina in Rokitansky-Kuster-Hauser syndrome. Attual Ostet Ginecol 1965;11:131-47
  2. Fedele L, Bianchi S, Tozzi L, Borruto F, Vignali M, A new laparoscopic procedure for creation of a neovagina in Mayer-Rokitansky-Kuster-Hauser syndrome. Fertil Steril 1996;66:854-7

External links

de:Mayer-Rokitansky-Küster-Hauser-Syndromhe:תסמונת רוקיטנסקי

nl:Syndroom van Mayer-Rokitansky-Küster


Linked-in.jpg