Mayer-Rokitansky-Küster-Hauser syndrome

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Classification according to ICD-10
Q52.8 Other specified congenital malformations of the female genital organs
Q51.8 Other congenital malformations of the uterus and cervix uteri - hypoplasia of the uterus and cervix uteri
ICD-10 online (WHO version 2019)

The Müllerian agenesis ( MRKHS ), short- Rokitansky-Kuster syndrome , Sexton Mayer syndrome or Rokitansky-Kuster-Hauser syndrome called congenital malformation is female genitals through inhibition malformation of the Mueller courses in second embryonic month. The etiology is unknown. Most likely there is a chromosomal disorder, which mainly causes a malformation of the Müllerian ducts . The ovarian function ( estrogen and gestagen synthesis ) is not disturbed, which allows the normal development of the secondary sexual characteristics. MRKH syndrome is a congenital malformation that only affects women . There is conflicting information about the frequency, often even on the same website. For example, Orphanet writes on the same website that the frequency is between 1 and 5 in 10,000 and “at least 1 in 4,500 women is affected”.

Normally, the vagina (sheath) connects the external genitalia with the uterus as a tubular organ about eight to twelve centimeters long and two to three centimeters wide . Women with MRKHS have only one strand of tissue roughly where the uterus and vagina normally lie. Some have a pit about 0.5–3 cm at the entrance to the vagina. Without surgical correction or therapy, penetrative vaginal intercourse is not possible.

Classification

The following subdivision of the syndrome is common:

  • Isolated MRKHS (Type I): Synonyms: Congenital absence of uterus and vagina; MRKH syndrome type 1; Rokitansky sequence
  • MRKHS with further malformations (MRKHS type II or MURCS association): Synonyms: Klippel-Feil syndrome - conductive hearing loss - absence of the vagina; MRKH syndrome type 2; Müller-Gang aplasia - renal aplasia - dysplasia of the cervico-thoracic somites
  • Atypical MRKHS: Synonyms: MRKH syndrome, atypical; Rokitansky syndrome, atypical; WNT4 deficiency , autosomal dominant inheritance with mutations at WNT4 - gene on chromosome 1 , locus p36.12

Symptoms

Clinical manifestation: vagina

Further findings:

  • normal hormonal profile, ovulatory cycle
  • normal female phenotype (secondary sexual characteristics)
  • Genetics: 46XX , normal
  • often inguinal hernia operations in childhood

therapy

Various surgical ( colpopoiesis ) and conservative methods are available for therapy .

Frank stretching should be mentioned as a conservative approach. The vagina is stretched by dilators , your own fingers and / or sexual intercourse itself. This procedure requires a high degree of willingness on the part of the patient, but proves to be far superior for the development of self-esteem and body awareness, so that it is now recommended as the method of first choice if the findings are suitable. All surgical procedures can result in injuries to the vagina and rectum, and psychosocial follow-up care is often inadequate. The most common methods are the McIndoe epidermal sheath, the intestinal sheath, the peritoneal sheath and the Vecchietti neovagina.

In the laparoscopically modified Vecchietti operation, a so-called phantom is inserted into the vaginal dimple that is usually present. Two sutures are attached to this phantom laparoscopically and passed through the abdominal wall to a tensioning device. The tensioning device now remains on the stomach for four to six days. By pulling on the threads, he pulls the vagina into the abdominal cavity and extends it up to ten to twelve centimeters. Then dilators are used for stretching. The surgical goal of enabling the patient to have a normal sex life is usually achieved. The advantage of this procedure is that the neovagina reacts like a normal vagina. Like any other woman, she becomes wet and loose during intercourse.

With all surgical methods (with the exception of the intestinal sheath) it is necessary to wear a phantom postoperatively to prevent shrinkage.

In 2014, an article was published in the specialist journal The Lancet about four women between the ages of 13 and 18 who eight years ago were given a vagina that had been grown from their own body cells from genital tissue. It should be fully functional and indistinguishable from a conventional vagina. Scientists led by Anthony Atala from the Wake Forest Baptist Medical Center for Regenerative Medicine in North Carolina did this .

In March 2019, two women affected by the MRKHS gave birth by caesarean section at the University Hospital Tübingen after their mother's uterus had been transplanted.

See also

literature

Web links

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  1. ↑ under this keyword own entry in: Peter Reuter: Springer Lexikon Medizin . Springer, 2004
  2. ↑ under this heading own entry in Pschyrembel, 261st edition, Walter de Gruyter 2007
  3. ↑ Orpha.net - Rare Disease Portal March 2007. Accessed November 22, 2013
  4. ↑ a b Claudia Arthen: Scheidenaplasie - Finally a completely normal woman February 23, 2010. Retrieved November 22, 2013
  5. ↑ Mayer-Rokitansky-Küster-Hauser syndrome type 1. In: Orphanet (database for rare diseases).
  6. ↑ MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME.  In: Online Mendelian Inheritance in Man . (English)
  7. ↑ Mayer-Rokitansky-Küster-Hauser syndrome type 2. In: Orphanet (database for rare diseases).
  8. ↑ MURCS.  In: Online Mendelian Inheritance in Man . (English)
  9. ↑ Mayer-Rokitansky-Küster-Hauser syndrome, atypical. In: Orphanet (Rare Disease Database).
  10. ↑ MULLERIAN APLASIA AND HYPERANDROGENISM.  In: Online Mendelian Inheritance in Man . (English)
  11. ↑ M. Stauber, T. Weyerstahl: Duale series gynecology and obstetrics, 2nd edition, 2005, Mayer-v. Rokitansky-Küster-Hauser Syndrome p. 113
  12. ↑ University Hospital Tübingen: Information brochure - rare diseases (PDF; 1.3 MB)
  13. ↑ a b Marlene Heinz: Conservative approach to vaginal plasia ( Memento of the original from December 2, 2013 in the Internet Archive ) Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice. (PDF; 384 kB) 2006. @1@ 2Template: Webachiv / IABot / www.frauenarzt.de
  14. ↑ The Erlangen MRKH Portal ( Memento of the original from May 18, 2010 in the Internet Archive ) Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice. accessed on March 14, 2010 @1@ 2Template: Webachiv / IABot / www.mrkh-syndrom.de
  15. ↑ L. Fedele, S. Bianchi, G. Frontino, E. Fontana, E. Restelli, V. Bruni: The laparoscopic Vecchietti's modified technique in Rokitansky syndrome: anatomic, functional, and sexual long-term results . In: Am. J. Obstet. Gynecol. . 198, No. 4, April 2008, pp. 377.e1-6. doi : 10.1016 / j.ajog.2007.10.807 . PMID 18241821 .
  16. ^ Organs from the laboratory: Artificial vagina helps sick women , Spiegel Online, April 11, 2014
  17. ↑ Uterus donation: Two healthy children were born , BR24.de, May 23, 2018
  18. ↑ Prof. Michael K. Hohl, chief physician at the gynecological clinic, Cantonal Hospital, Baden, Switzerland (until 2014), see also The clinical significance of Müller's malformations PDF, free of charge, 7 pages, 871 kB, in: Frauenheilkunde Aktuell , No. 1, 2009 .