Mayer-Rokitansky-Kuster-Hauser Syndrome

Common Name(s)

Mayer-Rokitansky-Kuster-Hauser Syndrome

Mayer-Rokitansky-KŸster-Hauser (MRKH) syndrome is a disorder that mainly affects the female reproductive system. This condition causes the vagina and uterus to be underdeveloped or absent. Ovaries are usually present and functional. Additional features may include kidney and/or skeletal abnormalities. While the cause of MRKH syndrome is unknown, it likely results from a combination of genetic and environmental factors. Most cases occur in women with no history of the disorder in their family. Less often, the condition is passed through generations in a family. Some of these cases appear to be inherited in an autosomal dominant fashion. Although women with this condition are usually unable to carry a pregnancy, they may be able to have children through assisted reproduction.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mayer-Rokitansky-Kuster-Hauser Syndrome" for support, advocacy or research.

AIS-DSD Support Group

The AIS-DSD Support Group is a compassionate community of individuals, families and allies collaborating to promote better lives and informed decision-making through advancement of knowledge so no one will face a diagnosis alone.

Last Updated: 12 Jan 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mayer-Rokitansky-Kuster-Hauser Syndrome" for support, advocacy or research.

AIS-DSD Support Group

The AIS-DSD Support Group is a compassionate community of individuals, families and allies collaborating to promote better lives and informed decision-making through advancement of knowledge so no one will face a diagnosis alone.

http://www.aisdsd.org

Last Updated: 12 Jan 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Mayer-Rokitansky-Kuster-Hauser Syndrome" returned 28 free, full-text research articles on human participants. First 3 results:

Decidualization is Impaired in Endometrial Stromal Cells from Uterine Rudiments in Mayer-Rokitansky-Küster-Hauser Syndrome.
 

Author(s): Sara Y Brucker, Simone Eisenbeis, Juliana König, Melanie Lamy, Madhuri S Salker, Ni Zeng, Harald Seeger, Melanie Henes, Dorit Schöller, Birgitt Schönfisch, Annette Staebler, Florin-Andrei Taran, Diethelm Wallwiener, Katharina Rall

Journal: Cell. Physiol. Biochem.. 2017 ;41(3):1083-1097.

 

Uterine rudiments from patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) contain all tissues typically found in the uterus. Endometrium from the rudiments predominantly exhibits basalis-like features, and endometrial proliferative capacity in patients' epithelium and ...

Last Updated: 28 Feb 2017

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Laparoscopic Davydov Procedure for the Creation of a Neovagina in Patients with Mayer-Rokitansky-Kuster-Hauser Syndrome: Analysis of 7 Cases.
 

Author(s): Kazumi Takahashi, Eri Nakamura, Shingo Suzuki, Mari Shinoda, Yoshihiro Nishijima, Yuko Ohnuki, Akane Kondo, Takashi Shiina, Takahiro Suzuki, Shunichiro Izumi

Journal:

 

Several surgical techniques have been described for creating a neovagina in patients with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, however as yet there is no standardized treatment. The aim of this report is to assess anatomic and functional outcomes after the laparoscopic ...

Last Updated: 27 Jun 2016

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Turner like dysmorphia as presenting feature of Type-II Mayer-Rokitansky-Kuster-Hauser syndrome.
 

Author(s): Deep Dutta, Anil Taneja

Journal: Indian J. Med. Res.. 2016 Mar;143(3):378-9.

 

Last Updated: 31 May 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Mayer-Rokitansky-Kuster-Hauser Syndrome" returned 4 free, full-text review articles on human participants. First 3 results:

Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature.
 

Author(s): Thomas Bjørsum-Meyer, Morten Herlin, Niels Qvist, Michael B Petersen

Journal:

 

The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac ...

Last Updated: 22 Dec 2016

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[Atipical form of Mayer-Rokitansky-Kuster-Hauser syndrome with renal malformation and skeletal abnormalities (MURCS association)].
 

Author(s): Mariana de Almeida Pinto Borges, Maria Lucia Elias Pires, Denise Leite Maia Monteiro, Suely Rodrigues Dos Santos

Journal: Rev Bras Ginecol Obstet. 2012 Mar;34(3):133-8.

 

The atypical and more severe form of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) or MRKH type II is also known as MURCS association, an acronym meaning aplasia/hypoplasia of Müllerian ducts (MU), congenital renal dysplasia (R) and cervico-thoracic dysplasia (CS). It affects female ...

Last Updated: 10 Apr 2012

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Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
 

Author(s): Karine Morcel, Laure Camborieux, , Daniel Guerrier

Journal:

 

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. It affects at least 1 out of 4500 ...

Last Updated: 27 Mar 2007

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome
 

Status: Recruiting

Condition Summary: Mayer Rokitansky Kuster Hauser Syndrome

 

Last Updated: 24 Aug 2017

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Uterus Transplantation From a Multi-organ Donor
 

Status: Recruiting

Condition Summary: Infertility, Female; Mayer Rokitansky Kuster Hauser Syndrome

 

Last Updated: 16 Aug 2017

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Uterus Transplantation From Live Donors and From Deceased Donors - Clinical Study
 

Status: Recruiting

Condition Summary: Mayer Rokitansky Kuster Hauser Syndrome; Mullerian Aplasia; Uterus; Absence, Congenital; Infertility, Female; Uterus Absence, Acquired; Absolute Uterine Factor Infertility

 

Last Updated: 12 Sep 2017

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