Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome
Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome
In order to understand the molecular mechanisms leading to Mayer-Rokitansky-Kuster-Hauser
 syndrome (MRKH), the research team has to identify molecular bases of this anomaly.

 Toward this goal, the research team would like to include in the study patients with MRKH
 syndrome, as well as their healthy relatives, in order to perform genetic analyses,
 especially whole exome sequencing.

 This study has been set up in order to collect biological samples from patients with MRKH and
 their relatives.
The MRKH is a congenital and rare malformation characterised by the absence of the uterus and
 of 2/3 of the vagina. The incidence is 1 in 4500 female children (46,XX) and a genetic
 component has been identified.

 In order to understand the molecular mechanisms leading to this disease, the research team
 has to identify the genetic abnormalities.

 This study will be led by the research team of the Imagine Institute and the clinical teams
 associated with the Reference Center for Rare Diseases PGR (Rare Gynecologic Diseases). Both
 groups are based on the Necker Hospital campus, and already closely collaborate on research
 into MRKH syndrome.

 This collaboration will allow to :

 i) collect biological samples from the propositus and their relatives,

 ii) have a medical expertise.

 The clinicians involved in the study will recruit patients, whose participation will involve
 providing a biological sample, ie, a blood sample and/or uterine tissue collected during
 surgical ablation, in the event that surgery is performed during clinical follow-up of the
 patients. No specific intervention will be planned for the purposes of this study.

 In order to perform genetic analysis on trios, the healthy relatives of the patients
 (parents, brothers, sisters) will also be included. Blood samples will be taken once for
 healthy relatives.

 Genetic analysis, especially whole exome sequencing, will be performed on blood samples by
 the research team of Imagine Institute.
Inclusion Criteria:

 -  Patient with MRKH syndrome OR healthy relative of patient included

 -  Having signed the Informed consent form (or parents in case of patient under 18 years)

 Exclusion Criteria:

 -  Refusal to participate in genetic analyses

 -  Participation in a therapeutical clinical study in the 30 days prior to inclusion in
 the present study.