Rokitansky Kuster Hauser syndrome

Common Name(s)

Rokitansky Kuster Hauser syndrome

Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by utero-vaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total mullerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5,000 newborn girls ({9:Cheroki et al., 2006}). The abnormality of sexual development in MRKH syndrome is the same as that in the MURCS association ({601076}), in which cervicothoracic somite anomalies, unilateral renal agenesis, and conductive deafness are also seen. Mullerian aplasia and hyperandrogenism ({158330}) is caused by mutation in the WNT4 gene ({603490}). Familial cases of unilateral or bilateral renal agenesis in combination with mullerian anomalies have also been reported (see urogenital adysplasia, {191830}).
 

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Condition Specific Organizations

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

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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 "Rokitansky Kuster Hauser syndrome" returned 30 free, full-text research articles on human participants. First 3 results:

Large leiomyoma in a woman with Mayer-Rokitansky-Kuster-Hauser syndrome.
 

Author(s): Kishan S Rawat, Tbs Buxi, Anurag Yadav, Samarjit S Ghuman, Shashi Dhawan

Journal:

 

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare congenital anomaly characterized as aplasia or hypoplasia of uterus and vagina in women with normal development of secondary sex characteristics. It affects 1 in 4000-5000 female births. Women with this syndrome present with ...

Last Updated: 24 May 2013

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Magnetic resonance evaluation of Müllerian remnants in Mayer-Rokitansky-Küster-Hauser syndrome.
 

Author(s): Roh-Eul Yoo, Jeong Yeon Cho, Sang Youn Kim, Seung Hyup Kim

Journal: Korean J Radiol. ;14(2):233-9.

 

To analyze magnetic resonance imaging (MRI) findings of Müllerian remnants in young females clinically suspected of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in a primary amenorrhea workup.

Last Updated: 13 Mar 2013

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MRI in the diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome.
 

Author(s): Taylan Kara, Berat Acu, Murat Beyhan, Erkan Gökçe

Journal: Diagn Interv Radiol. ;19(3):227-32.

 

The aim of this study was to establish the role of magnetic resonance imaging (MRI) in patients with Mayer-Rokitansky-Kuster-Hauser syndrome (MRKHS).

Last Updated: 1 May 2013

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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 "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

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