Evolution of the Quality of Life and Experience of Young Women With Utero-vaginal Aplasia (MRKHPSY) (MRKHPSY)

Changes in the Quality of Life and Experience of Young Women With Utero-vaginal Aplasia (MRKHPSY)

This study aims to evaluate the global evolution of the quality of life on patients diagnosed with MRKH syndrome (Mayer-Rokitansky-Kuster-Hauser), 8 to 10 years after the first research.

Study Overview

• Status: Completed
• Conditions: Mrkh Syndrome
• Intervention / Treatment: Other: Questionnaires

Detailed Description

Between 2012 and 2015, the French national reference center for rare gynecological pathologies (PGR) has conducted a study with 2 axis: a medical and a psychological section (clinical trial number NCT01911884).

The medical axis's aim was to compare the global and sexual quality of life of MRKH patients according to the mode of care (surgical or non-surgical) for vaginal aplasia. A total of 131 patients, with a mean age of 26.5 (±5.5) years old, were recruited for the study.

The quality of life was assessed considering 3 quality of life scales: global (WHOQOL-BREF) and sexual (FSFI and FSDS-R).

Quality of life scores and vaginal depth were compared and revealed that the surgery was not superior to self-dilation, whether in terms of quality of life or anatomical results. In addition, surgery was associated with complications in half of the cases. It should be mentioned that the overall quality of life of all 131 patients was similar to that of the general population, but significantly impaired in the psychosocial dimension in the younger patients. Notably, the quality of sexual life was not impaired with FSFI scores similar to those of the general population, but there was a profound sexual distress in nearly 71% of patients according to FSDS-R scores.

The psychological component of this initial research (called T1) focused specifically on the psychological, and more widely on the psychosocial, impact of the diagnosis of utero-vaginal aplasia in adolescent girls. 40 patients out of the 131 in the medical component participated (the first 40 contacted to participate in the medical component research). The results revealed a real experience of disability, and unexpectedly, addictive reactionary disorders (anorexia/bulimia or sport addiction), and an overrepresentation of heterosexual orientation compared to the general population. The absence of a uterus led to severe moral suffering regarding projections of access to biological motherhood.

This new research (called T2) involves the same population as T1 with the object of making each patient her own witness.

The purpose of the current study is to assess the evolution of this suffering, 8 to 10 years after the T1 study, using the same methodology as the previous study. The investigators hope to find an improvement in quality of life, a disappearance of addictive disorders and possibly a more vivid, but painful expression due to age, of the desire for motherhood, even if the uterus transplant is a source of hope.

Finding predictive factors of psychosocial difficulties would allow teh investigators to improve care practices, mainly psychological, which could also benefit other women with a rare disease affecting their sexuality and/or fertility.

• Study Type: Observational
• Enrollment (Actual): 25

Contacts and Locations

Study Locations

• France
  • Paris, France, 75015
    • Necker Children's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patient who participated in the initial T1 psychological component of the previous study (MRKH protocol)

Description

Inclusion Criteria:

• Patient aged of 18 years old or older
• Patient who participated in the initial T1 psychological component of the previous study (MRKH protocol)

Exclusion Criteria

- Refusal to participate in the study

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Evaluation of global quality of life	Evaluated by the World Health Organization Quality Of Life Brief Version (WHOQOL-BREF)	Day 0

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Socio-professional integration	Socio-professional integration based on professional integration criteria. The potential consequences of this malformation on socio-professional integration are also diagnosed during the semi-directive clinical consultation and with the quality of life scale: - Total score WHOQOL-BREF	Day 0
Socio-professional integration	Socio-professional integration based on professional integration criteria. The potential consequences of this malformation on socio-professional integration are also diagnosed during the semi-directive clinical consultation and with the quality of life scale: - item 18 score (How satisfied are you with your capacity for work?)	Day 0
Socio-professional integration	Socio-professional integration based on professional integration criteria. The potential consequences of this malformation on socio-professional integration are also diagnosed during the semi-directive clinical consultation and with the quality of life scale: -qualitative components mentioned during the clinical consultation regarding education and socio-professional integration	Day 0
Sexual quality of life	Sexual quality of life is assessed by two sex life self-questionnaires (Female Sexual Function Index FSFI and Female Sexual Dysfunction Scale-Revised FSFD).	Day 0
Addictive behavioural disorders	Description : Addictive behavioural disorders are diagnosed during the semi-directive clinical consultation. The semi-directive clinical consultation aims to promote the production of a speech by the patient on a given theme. This will be about the evolution of the personal history when the diagnosis was announced and the medical and/or surgical consequences that this diagnosis induced.	Day 0
Desire for motherhood	The desire for motherhood is identified during the semi-directive clinical consultation.	Day 0
The modalities to access to maternity	The modalities to access to maternity is identified during the semi-directive clinical consultation with three items: adoption, surrogacy, uterus transplantation;	Day 0
Modalities of their psychic functioning	by the semi-directive clinical interview and the Rorschach&TAT with 13 variables: Adaptation to reality; Type of anxiety:castration, loss of object, fragmentation, intrusion; Body image and characteristics of human responses :whole, partial, blurred, attacked; Self-representation:solid/fragile; Capacity to deploy conflictual scenarios; Female identification capability; Access to ambivalence; Modalities of thought investment: quality of laboration of the modes of apprehension: good/inadequate; Quality of psychic functioning and defensive range: flexible and adapted/rigid and adapted/flexible and inadapted/rigid and inadapted	Day 0

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris
• Collaborators: URC-CIC Paris Descartes Necker Cochin; Foundation for Rare Diseases; Necker Imagine Foundation; Laboratory of Clinical Psychology, Psychopathology and Psychoanalysis
• Investigators: Principal Investigator: Alaa CHEIKHELARD, Doctor; Study Director: Karinne Gueniche, MD, PhD

Study record dates

Study Major Dates

• Study Start (Actual): October 4, 2022
• Primary Completion (Actual): February 27, 2024
• Study Completion (Actual): February 27, 2024

Study Registration Dates

• First Submitted: May 2, 2022
• First Submitted That Met QC Criteria: June 10, 2022
• First Posted (Actual): June 13, 2022

Study Record Updates

• Last Update Posted (Actual): November 20, 2025
• Last Update Submitted That Met QC Criteria: November 17, 2025
• Last Verified: October 1, 2025

More Information

Terms related to this study

• Keywords: Quality of life; Mayer-Rokitansky-Kuster-Hauser Syndrome; Utero-vaginal aplasia
• Additional Relevant MeSH Terms: Mullerian aplasia; Health Care Quality, Access, and Evaluation; Investigative Techniques; Epidemiologic Methods; Data Collection; Health Care Evaluation Mechanisms; Quality of Health Care; Public Health; Environment and Public Health; Surveys and Questionnaires
• Other Study ID Numbers: APHP211596; 2021-A02881-40 (Other Identifier: ID-RCB Number)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No