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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General Support Organizations

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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 29 free, full-text research articles on human participants. First 3 results:

Acne and PCOS are less frequent in women with Mayer-Rokitansky-Küster-Hauser syndrome despite a high rate of hyperandrogenemia: a cross-sectional study.
 

Author(s): Katharina Rall, Gabriele Conzelmann, Norbert Schäffeler, Melanie Henes, Diethelm Wallwiener, Matthias Möhrle, Sara Y Brucker

Journal:

 

Acne is a very common skin condition during adolescence and adulthood. Patients with uterovaginal agenesis (Mayer-Rokitansky-Küster-Hauser syndrome, MRKH) treated at the Tübingen University Center for Rare Female Genital Malformations, however, clinically appeared to be less frequently ...

Last Updated: 21 Mar 2014

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Gene expression profile of patients with Mayer-Rokitansky-Küster-Hauser syndrome: new insights into the potential role of developmental pathways.
 

Author(s): Cristina Nodale, Simona Ceccarelli, Mariateresa Giuliano, Marcella Cammarota, Sirio D'Amici, Enrica Vescarelli, Diana Maffucci, Filippo Bellati, Pierluigi Benedetti Panici, Ferdinando Romano, Antonio Angeloni, Cinzia Marchese

Journal:

 

Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a rare disease characterized by congenital aplasia of uterus and vagina. Although many studies have investigated several candidate genes, up to now none of them seem to be responsible for the aetiology of the syndrome. In our study, ...

Last Updated: 10 Mar 2014

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The rectovaginal septum: visible on magnetic resonance images of women with Mayer-Rokitansky-Küster-Hauser syndrome (Müllerian agenesis).
 

Author(s): Markus Huebner, Katharina Rall, Sara Yvonne Brucker, Christl Reisenauer, Katja Claudia Siegmann-Luz, John O L DeLancey

Journal: Int Urogynecol J. 2014 Mar;25(3):323-7.

 

Ongoing debate exists about whether the rectovaginal septum (Denonvilliers' fascia) is myth or reality. This study evaluates magnetic resonance images (MRI) of women with Müllerian agenesis for the presence of fascial layers between the rectum and the bladder to test the hypothesis ...

Last Updated: 16 Apr 2014

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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 3 free, full-text review articles on human participants. First 3 results:

[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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The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approaches.
 

Author(s): Daniel Guerrier, Thomas Mouchel, Laurent Pasquier, Isabelle Pellerin

Journal:

 

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome affects at least 1 out of 4500 women and has for a long time been considered as a sporadic anomaly. Congenital absence of upper vagina and uterus is the prime feature of the disease which, in addition, is often found associated with ...

Last Updated: 16 Feb 2006

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.