Müllerian agenesis

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Müllerian agenesis
Other names
  • Rokitansky–Küster–Hauser syndrome (RKH or RKHS)
  • Müller–Mayer–Rokitansky–Küster–Hauser syndrome
  • Müllerian aplasia
  • Vaginal agenesis
Gynecology
SymptomsMissing uterus and variable degrees of vaginal hypoplasia
Frequency1 in 4,500 females[1]

Müllerian agenesis, also known as Müllerian aplasia, vaginal agenesis, or Mayer–Rokitansky–Küster–Hauser syndrome (MRKH syndrome), is a

infertile due to the lack of a functional uterus. However, biological motherhood is possible through uterus transplantation or use of gestational surrogates
.

Müllerian agenesis is hypothesized to be a result of

autosomal dominant inheritance with incomplete penetrance and variable expressivity
, which contributes to the complexity involved in identifying of the underlying mechanisms causing the condition. Because of the variance in inheritance, penetrance and expressivity patterns, Müllerian agenesis is subdivided into two types: type 1, in which only the structures developing from the Müllerian duct are affected (the upper vagina, cervix, and uterus), and type 2, where the same structures are affected, but is characterized by the additional malformations of other body systems most often including the renal and skeletal systems. Type 2 includes MURCS (Müllerian Renal Cervical Somite).

The majority of Müllerian agenesis cases are characterized as sporadic, but familial cases have provided evidence that, at least for some patients, it is an inherited disorder. The underlying causes are still being investigated, but several causative genes have been studied for their possible association with the syndrome. Most of these studies have served to rule-out genes as causative factors, but thus far, only WNT4 has been associated with Müllerian agenesis with hyperandrogenism.[3][4]

Reports of Müllerian agenesis can be traced back to Hippocrates (460 B.C.–377 B.C.).

medical eponym honors August Franz Josef Karl Mayer (1787–1865), Carl Freiherr von Rokitansky
(1804–1878), Hermann Küster (1879–1964) and Georges Andre Hauser (1921–2009).

Signs and symptoms

A female with this condition is hormonally normal; that is, the woman will enter

secondary sexual characteristics including thelarche (breast development) and pubarche (pubic hair). The woman's karyotype will be 46,XX. At least one ovary is intact, if not both, 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.[citation needed
]

If there is no uterus, a woman with Müllerian agenesis cannot carry a pregnancy without intervention. It is possible for the woman to have genetic offspring by

in vitro fertilization (IVF) and surrogacy. Successful uterine transplant has been performed in limited numbers of patients, resulting in several live births, but the technique is not widespread or accessible to many women.[7]

A woman with Müllerian agenesis typically discovers the condition when, during puberty years, the menstrual cycle does not start (primary

amenorrhoea). Some find out earlier through surgeries for other conditions, such as a hernia.[citation needed
]

Causes

The etiology of Müllerian agenesis in many cases remains elusive.[8] However, mutations in a variety of different genes have been implicated in causing MRKH syndrome.[9][10][11] The typical and atypical forms of the disorder are presumably caused by mutations in different genes.[8]

fallopian tubes, and much of the vagina, are hence affected.[13]

An association with

chromosome 17, has been reported. The gene LHX1 is located in this region and may be the cause of a number of these cases.[14]

Diagnosis

Classification

Treatment

A number of treatments have become available to create a functioning vagina, the first successful uterus transplantation has been done in 2021, giving fertility to the transplant recipient. Standard approaches use vaginal dilators and/or surgery to develop a functioning vagina to allow for

autotransplant of a resected sigmoid colon using laparoscopic surgery; results are reported to be very good with the transplant becoming a functional vagina.[18]

gestational carrier. Some also choose to adopt.[20][21]

Experimental

In October 2014, it was reported that a month earlier a 36-year-old Swedish woman became the first woman with a transplanted uterus to give birth to a healthy baby. She was born without a uterus, but had functioning ovaries. She and the father went through IVF to produce 11 embryos, which were then frozen. Doctors at the University of Gothenburg then performed the uterus transplant, the donor being a 61-year-old family friend. One of the frozen embryos was implanted a year after the transplant, and the baby boy was born prematurely at 31 weeks after the mother developed pre-eclampsia.[22]

Promising research include the use of laboratory-grown structures, which are less subject to the complications of non-vaginal tissue, and may be grown using the woman's own cells as a culture source.[23][24]

As 2023 more than 100 womb transplants have taken place with around 50 babies have been born worldwide[25][26]

Lab-grown vagina

See also: Tissue engineering

2014 study and experiment with lab-grown engineered vaginas using the patient's own cells has resulted in fully functional vaginas capable of menstruation, sustaining penetrative sex, and orgasm in 4 patients showing promise of fully correcting this condition.[27][28]

Epidemiology

The prevalence remains sparsely investigated. To date, two population-based nationwide studies have been conducted both estimating a prevalence about 1 in 5,000 live female births.[contradictory][29][30] According to some reports, Queen Amalia of Greece may have had the syndrome, but a 2011 review of the historical evidence concludes that it is not possible to determine the inability of her and her husband to have a child.[31][6] Their inability to conceive an heir contributed to the overthrow of the king King Otto.[31]

People with Müllerian agenesis

Suspected cases

See also

References

  1. ^ "Mayer–Rokitansky–Küster–Hauser syndrome: Diagnosis, Management, and Treatment". ACOG. January 2018. Retrieved 21 January 2018.
  2. ^ Welt CK, Barbieri RL. "Etiology, diagnosis, and treatment of primary amenorrhea". Retrieved 19 November 2015.
  3. ^ Woten M. "Quick Lesson: Mayer–Rokitansky–Kuster–Hauser Syndrome". In Cinahl DP (ed.). Information Systems.
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    PMID 25260227
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  7. ^ Lewis T (10 July 2016). "Uterus transplants: My sister gave me her womb". The Guardian. Retrieved 10 July 2016.
  8. ^
    PMID 32819397
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  9. PMID 29527097
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  11. S2CID 19145776
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  12. ^
    S2CID 33461252
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  13. ^ "WNT4 Müllerian aplasia and ovarian dysfunction". Genetics Home Reference. Archived from the original on 2014-06-14. Retrieved 2012-08-18.
  14. ^ Ledig S, Brucker S, Barresi G, Schomburg J, Rall K, Wieacker P (2012) Frame shift mutation of LHX1 is associated with Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. Hum Reprod
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  17. ^ "Vecchietti Procedure" (PDF). University College University Hospitals. Archived from the original (PDF) on 2009-04-11. Retrieved 2010-04-03..
  18. ^ Hold MK (2007-01-16). "Modernes Management der angeborenen (Mayer–Rokitansky–Küster–Hauser, MRKH-Syndrom) und erworbenen Vaginalaplasie" (PDF). Frauenheilkunde-Aktuell (in German).
  19. PMID 23084266
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  20. doi:10.3329/bmjk.v45i1-2.13626
    .
  21. ^ "Rokitansky Syndrome: Information for Parents / Carers" (PDF). Saint Mary's Hospital, Manchester. Archived from the original (PDF) on 19 February 2017. Retrieved 11 April 2014.
  22. ^ "First womb-transplant baby born". BBC News. 2014-10-04. Retrieved 2023-08-27.
  23. ^ "Laboratory-grown vaginas implanted in patients". Retrieved 14 April 2014.
  24. S2CID 6296110
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  25. doi:10.1016/j.fertnstert.2023.04.005
    .
  26. ^ "Woman receives sister's womb in first UK transplant". BBC News. 2023-08-22. Retrieved 2023-08-27.
  27. doi:10.1016/S0262-4079(14)60758-2
    .
  28. S2CID 6296110
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  29. PMID 11570363
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  30. PMID 27609979
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  31. ^
    PMID 21365071
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  32. PMID 24139033
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  33. ^ sleath, emma (2014-12-03). "I am intersex: Shon Klose's story". ABC Alice Springs. Retrieved 2019-10-27.
  34. ^ One Plus One: Shon Klose, Australian Broadcasting Corporation, 2015-09-28, retrieved 2019-10-27
  35. ^ Chandler Levack, "TIFF 2023: The bold risks and bloody rewards of Canada’s Molly McGlynn" The Globe and Mail, September 5, 2023.
  36. ^ "Why This Woman Is Proud to Be Known as "The Pageant Queen Without a Uterus"". Cosmopolitan. 2015-01-20. Retrieved 2018-09-09.
  37. ^ "The infertility of the first royal couple of Greece" (PDF). Royal college of physicians of Edinburgh.

Further reading

External links
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