Evaluation of the Quality of Life and Gynecological Follow-up of Patients Treated for Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome

NCT07186764 | Recruiting

• 2 other identifiers: RC31/25/0251ID-RCB
• Study Type: observational
• Target: 102
• Locations: 1 country
• Sites: 1

Brief Summary

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome affects 1 in 4,500 women and consists of utero-vaginal aplasia in 46 chromosom XX women, most often diagnosed in the presence of primary amenorrhea. This diagnosis, occurring in adolescence during the period of identity formation, can have significant psychological repercussions. This malformation can alter the body image and personal relationships of affected patients, beyond the impact on their sexual lives. Management around the disclosure is a crucial moment for these patients. Individual or group psychological support is systematically offered. Several international studies show that these patients experience a decline in their quality of life, and they are more anxious and depressed. Participation in support groups improves this state. The objective of this study is therefore to better understand Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and the issues patients may face. For this reason, it seems essential to us to evaluate the overall quality of life, the quality of sexual life, the psychological state and the gynecological follow-up of women before or after treatment for vaginal aplasia.

Conditions

Mrkh Syndrome

Keywords

MRKH; Mayer-Rokitansky-Küster-Hauser; gynecology; vaginal aplasia; quality of life; MRKH syndrome

Outcome Measures

Primary Outcomes (1)

• Evaluation of the overall quality of life of patients with Mayer-Rokitansky-Küster-Hauser syndrome.

  Comparison of the score obtained on the WHOQOL BREF questionnaire between women with Mayer-Rokitansky-Küster-Hauser syndrome and the control population (score from 0 to 100, 0 corresponding to the worst quality of life and 100 to the best possible quality of life)

  One hour after the inclusion

Secondary Outcomes (6)

• Evaluation of the quality of sexual life

  1 hour after the inclusion

• Assessment of distress regarding sexuality

  1 hour after the inclusion

• Self-esteem assessment

  1 hour after the inclusion

• Evaluation of gynecological monitoring of patients

  1 hour after the inclusion

• Qualitative evaluation of the impact of utero-vaginal aplasia on intimate life

  1 hour after the inclusion

Study Arms (2)

Patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

Women patients with Mayer-Rokitansky-Küster-Hauser syndrome

Other: Questionnaires; Other: Semi-directed interview

Control group

patients followed in the gynecology department but not suffering from Mayer-Rokitansky-Küster-Hauser syndrome

Other: Questionnaires

Interventions

Questionnaires OTHER

questionnaires: WHOQOL-BREF (Quality of Life Study Questionnaire), FSFI (Female Sexual Function Index), FSDS-R (The Femala sexual distress scale-revised), Rosenberg scale (self-esteem assessment)

Control group; Patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

Semi-directed interview OTHER

Semi-directed interview on the treatment pathway and the impact of utero-vaginal aplasia on intimate and personal life

Patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

Eligibility Criteria

• Age: 18 Years - 50 Years
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Patients with Mayer-Rokitansky-Küster-Hauser syndrome and patients followed in gynecological consultation without the presence of this syndrome

You may qualify if:

• For Mayer-Rokitansky-Küster-Hauser patients:
• Patient over 18 and under 50
• Confirmed diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome
• Diagnosis announced more than 1 year ago
• Patient treated by the CRMR PGR
• Patient affiliated with or benefiting from a social security scheme
• Fluency in French
• For the control population:
• Patient over 18 and under 50
• Patient affiliated with or benefiting from a social security scheme
• Fluency in French

You may not qualify if:

• For Mayer-Rokitansky-Küster-Hauser patients:
• Minors over 50 years of age
• Recent diagnosis \< 1 year
• Other causes of uterine or vaginal aplasia, surgical or congenital
• Patients benefiting from a legal protection measure (guardianship, curatorship, legal protection)
• Patients unable to understand or answer the questionnaires
• For the control population:
• Minors over 50 years of age
• Patients benefiting from a legal protection measure (guardianship, curatorship, legal protection)
• Patients unable to understand or answer the questionnaires

Sponsors & Collaborators

• University Hospital, Toulouse: lead

Study Sites (1)

Service d'Endocrino-gynéco-pédiatrie, Hôpital des Enfants, 330 Avenue de Grande Bretagne

Toulouse, 31059, France

RECRUITING

MeSH Terms

Conditions

Mullerian aplasia

Interventions

Surveys and Questionnaires

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Central Study Contacts

Audrey CARTAULT, MD

CONTACT

05 67 77 11 29; cartault.a@chu-toulouse.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 1 Day
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 3, 2025
• First Posted: September 22, 2025
• Study Start: March 4, 2026
• Primary Completion (Estimated): March 4, 2027
• Study Completion (Estimated): September 1, 2027
• Last Updated: April 2, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)