Sexuality and Sexual Quality of Life in Adult Patients With Turner Syndrome (TS) Compared With Patients With Primary Ovarian Insufficiency Different From TS (SEXATURN)

January 24, 2022 updated by: Assistance Publique - Hôpitaux de Paris

Sexuality and Sexual Quality of Life in Adult Patients With Turner Syndrome (TS) Compared With Patients With Primary Ovarian Insufficiency and Normal Karyotype

Turner syndrome (TS) is a rare disease affecting 1/2500 female. It is defined by a complete or partial loss of an X chromosome associated with clinical signs. The most frequent signs are a small height and primary ovarian insufficiency (POI). POI occurs in 95% of patients with TS. Clinically, patients have amenorrhea with elevated FSH levels (> 25 IU/L), before the age of 40. In most cases, patients receive hormonal replacement therapy. Among patients with POI, TS is present in less than 10% of cases. Therefore POI may occur in patients with normal karyotype, therefore without TS.

Preliminary data suggest altered sexual function in patients with TS. The first goal of our study is to evaluate sexual function and sexual quality in patients with TS using a questionnaire, the Female Sexual Function Index (FSFI).

The second goal is to compare sexual quality in patients in patients with TS compared to female patients with POI not related to TS. Our study should identify predictive markers of altered sexual function.

The final endpoint is to optimize the quality of life of patients with TS and to enhance, if necessary psychological support in such patients.

Study Overview

Status

Enrolling by invitation

Conditions

Detailed Description

Turner syndrome (TS) is a rare disease. It affects around 1/2500 female newborns. It is defined as a chromosomal abnormality with a total or partial loss of one X chromosome associated with clinical signs of TS, such as a small height and primary ovarian insufficiency (POI). POI is present in 95% of patients with TS. Its definition relies on amenorrhea or severe oligomenorrhea with an elevated FSH level higher than 25 IU/L occurring before the age of 40 years. In TS, POI is related to an accelerated ovarian follicle loss due to atresia. Patients with POI should receive hormonal replacement therapy (HRT) with estrogen and progesterone/progestin. Patients with POI should be on HRT until the age of physiological menopause, around 51 years of age. One of the main consequence of POI is infertility. The rate of natural pregnancy in women with TS is around 7%. Other clinical signs included in TS are cardiovascular diseases (50% of cases), deafness (34%), renal diseases (24-42%) or autoimmune diseases. Recent studies suggest psychological abnormalities in patients with TS. They include low self-esteem, anxiety and in some cases autistic traits. Preliminary studies have suggested altered sexual life in women with TS. The goal of our study is to evaluate the quality of sexual life in such patients using of validated questionnaire, the Female Sexual Fonction Index (FSFI).

This questionnaire contains 19 questions. It has been translated in French. It has been previously used in a French study testing sexual life of women with 21 hydroxylase deficiency. Recently a simplified version of this questionnaire containing only 6 questions has been validated. Several studies using both questionnaires have shown similar results with both questionnaire. Therefore, the investigators are going to use the simplified questionnaire. A major reason is that patients with TS have in general a low self-esteem and the simplified version is less intrusive than the entire questionnaire. Therefore , the investigators believe that it will be easier for patients with TS to fill this simplified version of FSFI questionnaire.

In order to evaluate whether sexual dysfunction in women with TS is related to Turner syndrome or to POI by itself, the investigators have included a control group. Women with POI with normal karyotype, in whom POI is not related to Turner syndrome are going to be included in our study. POI in such women may be related to chemotherapy, radiotherapy, ovarian surgery, autoimmune diseases or genetic diseases. So far, more than 70 candidate genes have been identified in patients with POI.

Our Unit, based in St Antoine hospital, Assistance-Publique hôpitaux de Paris, France, has been recognized in 2006 by the French Ministry of Health as a reference center for rare endocrine diseases including Turner syndrome and patients with POI. Our center belongs to FIRENDO network and is recognized as a member of the European network of rare diseases (Endo-ERN). It includes 350 patients with TS and 600 patients with POI not related to TS. All patients have given an authorization to use their clinical data. In order to have a high rate of responders , the investigators are going to send the questionnaire to patients who last visited our Unit between 2018 and December of 2020.

The main goal of our study is to evaluate sexual function of such patients and , the investigators wish to confirm or not whether sexual quality of sexual life is altered in patients with TS. If our study illustrates such an alteration, special care concerning sexual function should be initiated in patients with TS. In particular, psychologists should be recruited to improve the life of patients with TS. Our study should have a direct impact in patients with TS.

Two groups of adult patients, aged between 18 and 50 years of age, are going to receive the simplified FSFI anonymous questionnaire by postal mail. The first group is women with POI related to TS and the second group women with POI not related to TS. If no answer is received, patients will be called over the phone by a single physician in order to help the patients answer the questionnaire (Dr Emma Dubost).

Study Type

Observational

Enrollment (Anticipated)

300

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

France
- - Paris, France, 75012
    - Hôpital St Antoine, Sorbonne University, Endocrinology-Diabetology Department, Reproductive medicine

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 50 years (Adult)

Accepts Healthy Volunteers

Genders Eligible for Study

Female

Sampling Method

Non-Probability Sample

Study Population

Patients followed in our reference center of rare diseases named CMERCD belonging to FIRENDO network of rare diseases in France ; our center is labelled as an endo-ERN center of rare diseases.

Description

Inclusion Criteria:

karyotype with at least10% of 45,X cells
age between 18-50
followed in our reference centre

Exclusion Criteria:

refusal of patients to participate
Without health insurance
Patients under supervision & guardianship

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Number of groups / cohorts

Cohorts and Interventions

Group / Cohort
Turner patients with Turner syndrome
POI patients with primary ovarian failure

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Sexuality anomalies with score (patient TS) Time Frame: Day 1	Measuring sexuality anomalies thanks to FSFI-6 questionnaire by TS patients the day of inclusion (score between " 30 " corresponding to " no sexual abnormalities " and " 0 " corresponding to " maximum sexual abnormalities signs ".	Day 1

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Sexuality anomalies with score (patient POI) Time Frame: Day 1	Measuring sexuality anomalies thanks to FSFI-6 questionnaire by POI patients the day of inclusion (score between " 30 " corresponding to " no sexual abnormalities " and " 0 " corresponding to " maximum sexual abnormalities signs ".	Day 1
Evaluate predictive factors of sexual quality of life Time Frame: Day 1	Correlation between FSFI-6 score and the patients' height, weight, karyotype, presence of deafness, largest aortic diameter measured by MRI or ultrasound Exploration	Day 1

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Assistance Publique - Hôpitaux de Paris

Collaborators

Institut National de la Santé Et de la Recherche Médicale, France

Investigators

Principal Investigator: Sophie Christin-Maitre, Professor, Assistance Publique - Hôpitaux de Paris

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Anticipated)

February 1, 2022

Primary Completion (Anticipated)

May 1, 2022

Study Completion (Anticipated)

May 1, 2022

Study Registration Dates

First Submitted

July 31, 2021

First Submitted That Met QC Criteria

January 24, 2022

First Posted (Actual)

February 4, 2022

Study Record Updates

Last Update Posted (Actual)