Sexual Quality of Life in Female Patients With Lipodystrophy Syndromes or Turner's Syndrome: a Case-control Study (LIPTURN)

Sexual Quality of Life in Female Patients With Lipodystrophy Syndromes or Turner Syndrome: a Case-control Study

Turner syndrome (TS) and congenital lipodystrophy syndromes (LS) are rare conditions with major consequences on cardiometabolic health, fertility, and body morphology. Some physical changes are visible from childhood in women with TS and from puberty in women with LS. Frequently, body morphology constitutes the first symptom orienting the diagnosis.

In 2018, a systematic review identified 13 studies (4 randomised controlled trials, 1 case-control study, 4 cohort studies, 4 cross-sectional studies) assessing quality of life in women with TS and two observational studies in women with LS (1 cohort study, 1 cross-sectional study). These investigations suggested an impairment in the overall quality of life compared with the general population.

However, little data exists on sexual quality of life, which is influenced by various factors: biological, hormonal, developmental, psychological, relational and social determinants. In the context of these chronic conditions, with biological and hormonal determinants, sexual quality of life may be affected.

Only three observational studies assessing sexual quality of life with small sample sizes, including one ongoing study, have been identified. Data suggested a decrease in the sexual quality of life.

When integrated into women's care pathways, aesthetic care recommended in French national diagnostic and management plans may help improving body image in women with LS. The uptake of these treatments in line with the recommendations has never been assessed, nor have their costs.

This study aims to compare the sexual quality of life of women with TS or LS with that of the general population.

Study Overview

• Status: Not yet recruiting
• Conditions: Turner Syndrome; Lipodystrophy, Familial Partial; Lipodystrophy Congenital Generalized

Detailed Description

Turner syndrome (TS) and congenital lipodystrophy syndromes (LS) are rare conditions with major consequences on cardiometabolic health, fertility, and body morphology. Certain physical changes are visible from childhood in women with TS and from puberty in women with LS. Frequently, body morphology constitutes the first symptom orienting the diagnosis.

In 2018, a systematic review identified 13 studies (4 randomised controlled trials, 1 case-control study, 4 cohort studies, 4 cross-sectional studies) assessing quality of life in women with TS and two observational studies in women with LS (1 cohort study, 1 cross-sectional study). These investigations suggested an impairment in the overall quality of life compared with the general population.

However, little data exists on sexual quality of life, which is influenced by various factors: biological, hormonal, developmental, psychological, relational and social determinants. In the context of these chronic conditions, with biological and hormonal determinants, sexual quality of life may be affected.

Only three observational studies assessing sexual quality of life with small sample sizes, including one ongoing study, have been identified. Data suggested a decrease in the sexual quality of life.

In a 2013 cohort study of 26 sexually active women with TS, reduced arousal was found. A cross-sectional study involving 46 women with LS suggested that 42% of women were dissatisfied with their sex lives. A cross-sectional study comparing the sexual function of 99 women with TS and premature ovarian failure to that of 106 women with premature ovarian failure without TS showed that women with LS had less frequent sexual intercourse, a later age at first intercourse, a lower number of sexual partners and less frequent orgasms.

When integrated into women's care pathways, aesthetic care recommended in French national diagnostic and management plans may help improving body image in women with LS. The uptake of these treatments in line with the recommendations has never been assessed, nor have their costs.

This study aims to compare the sexual quality of life of women with TS or LS with that of the general population.

The hypothesis is that sexual quality of life is poorer in women with TS or LS than in the general population.

Perceptions of body image, the use of aesthetic care and their costs will also be described to assess the implementation of recommendations and to develop potential avenues for care or improvement, if necessary, in the management of these patients.

Sample size:

We aim to test two hypotheses concerning the two populations (LS and TS) compared with controls from the general population, for whom the proportion of sexual dissatisfaction is estimated at 27.5%. Assuming a proportion of dissatisfaction at least 20% higher in both patient groups, with a two-sided alpha of 2.5%, a power of 80%, and Fisher's exact test, 118 women with LS, 118 women with TS, and 590 + 590 matched controls (planned ratio 1:5) will be required, for a total of 1,416 participants.

The qualitative interviews will be proposed to 20 women (10 LS and 10 TS), selected purposively according to age, study center, and investigators' judgment.

Study procedures:

Quantitative phase:

An information sheet will be sent by post, accompanied by an explanatory letter from the patient's doctor, and a telephone consultation will be arranged with the study coordinator at each centre to document non-opposition from all patients meeting the inclusion criteria. A reflection period of 5 to 10 minutes will be allowed. The non-opposition will be recorded in the medical record.

Patients have a 14-day period to complete the questionnaires at home using an e-CRF. The time required to complete the questionnaires is estimated at approximately 30 minutes.

In the event of non-response, reminders will be sent by email on Day 15, followed by a telephone call on Day 21. Patients hospitalized or attending outpatient consultations in participating centres during the recruitment period will also be invited to participate, if they have not already completed the questionnaires.

Qualitative phase:

Following questionnaire completion, and approval of the study coordinator for the centre, an information sheet accompanied by an explanatory letter from the patient's doctor, will be sent by post to a sample of 20 women, and a telephone consultation will be arranged to invite them to take part in the qualitative study.

Semi-structured interviews of 45 minutes will be conducted remotely or in person during hospitalisations or outpatients' consultations in the Endocrinology Department, Saint Antoine Hospital, AP-HP, by the coordinating investigator within two months of documented non-opposition.

Study duration:

• Inclusion period: 14 months (quantitative phase: 9 months; qualitative phase: 5 months)
• Individual participation period: maximum of 2 months and 28 days (quantitative phase: maximum of 28 days; qualitative phase: maximum of 2 months)
• Total study duration: 16 months + 28 days

Number of centers: 3

• Study Type: Observational
• Enrollment (Estimated): 1416

Contacts and Locations

• Study Contact: Name: Inès BELALEM, Nurse-Data manager-PhDs; Phone Number: 00 33 149282401; Email: Ines.belalem@aphp.fr
• Study Contact Backup: Name: Judith LEBLANC, Nurse, Associate professor SU; Email: Judith.leblanc@aphp.fr

Study Locations

• France
  • Paris, France, 75012
    • Endocrinologie, Diabétologie et Médecine de la reproduction
    • Contact: Inès BELALEM, Nurse - Data Manager, PhDs; Phone Number: 00 33 149282401; Email: Ines.belalem@aphp.fr
    • Contact: Sophie LAMOTHE, MD; Email: Sophie.lamothe@aphp.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Adult women with genetically confirmed lipodystrophy syndromes [Congenital Generalized] or [Partial Familial] or Turner syndrome, and with at least one consultation in the participant centers.

Description

Inclusion Criteria:

Cases:

• Female aged 18 or more
• Diagnosed with LS (Congenital Generalized Lipodystrophy or Familial Partial Lipodystrophy) or TS, diagnosis genetically confirmed
• Patients followed in one of the participating centers
• Adequate written and oral comprehension of the French language
• No objection to participate

Control group:

Constances cohort with volunteers representative of the French general population.

Exclusion Criteria:

- Not applicable

Study Plan

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort
Lipodystrophy syndromes group; 118 patients with lipodystrophy syndromes
Turner syndrome group; 118 patients with Turner syndrome
General population (Constances' cohort) control group; 1180 individuals from the general population (Constances' cohort)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
proportion of sexual dissatisfaction in women with LS compared with that of women from the general population	proportion of sexual dissatisfaction in women with LS compared to women from the general population (Sexual Life questionnaire from Constances cohort, Questions 'Lifestyle and health: sexual life') in order to compare sexual dissatisfaction in women with LS, on the one hand, and TS, on the other, with that of women from the general population	Day 0
proportion of sexual dissatisfaction in women with TS compared with that of women from the general population	proportion of sexual dissatisfaction in women with TS compared with that of women from the general population (Sexual Life questionnaire from Constances cohort, Questions 'Lifestyle and health: sexual life') in order to compare sexual dissatisfaction in women with LS, on the one hand, and TS, on the other, with that of women from the general population	Day 0

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
proportion of disinterest in sexuality among women with LS compared with that of women from the general population (Sexual Life questionnaire from Constances cohort, Questions 'Lifestyle and health: sexual life')	proportion of disinterest in sexuality among women with LS compared with that of women from the general population (Sexual Life questionnaire from Constances cohort, Questions 'Lifestyle and health: sexual life') in order to compare sexual function, including a lack of interest in sexuality and the occurrence of pain during intercourse, among women with LS, on the one hand, and TS, on the other hand, and women in the general population.	Day 0
proportion of pain during intercourse in women with LS compared with that of women from the general population (Sexual Life questionnaire from Constances cohort, Questions 'Lifestyle and health: sexual life')	proportion of pain during intercourse in women with LS compared with that of women from the general population (Sexual Life questionnaire from Constances cohort, Questions 'Lifestyle and health: sexual life') in order to compare sexual function, includin	Day 0
proportion of disinterest in sexuality among women with TS compared with that of women from the general population (Sexual Life questionnaire from Constances cohort, Questions 'Lifestyle and health: sexual life')	proportion of disinterest in sexuality among women with TS compared with that of women from the general population (Sexual Life questionnaire from Constances cohort, Questions 'Lifestyle and health: sexual life') in order to compare sexual function, including a lack of interest in sexuality and the occurrence of pain during intercourse, among women with LS, on the one hand, and TS, on the other hand, and women in the general population.	Day 0
proportion of pain during intercourse in women with TS compared with that of women from the general population (Sexual Life questionnaire from Constances cohort, Questions 'Lifestyle and health: sexual life')	proportion of pain during intercourse in women with TS compared with that of women from the general population (Sexual Life questionnaire from Constances cohort, Questions 'Lifestyle and health: sexual life') in order to compare sexual function, includin	Day 0
proportion of women with LS with dysmorphic disorders (Body Dysmorphic Disorder Questionnaire-Aesthetic Surgery)	proportion of women with LS with dysmorphic disorders (Body Dysmorphic Disorder Questionnaire-Aesthetic Surgery) in order to assess body image perceptions among women with LS and TS	Day 0
proportion of women with TS with dysmorphic disorders (Body Dysmorphic Disorder Questionnaire-Aesthetic Surgery)	proportion of women with TS with dysmorphic disorders (Body Dysmorphic Disorder Questionnaire-Aesthetic Surgery) in order to assess body image perceptions among women with LS and TS.	Day 0
Body appreciation score (Body Appreciation Scale-2) among women with LS	Body appreciation score (Body Appreciation Scale-2) among women with LS, in order to assess body image perceptions, including body dysmorphic disorders and body appreciation, among women with LS and TS.	Day 0
Body appreciation score (Body Appreciation Scale-2) among women with TS	Body appreciation score (Body Appreciation Scale-2) among women with TS, in order to assess body image perceptions, including body dysmorphic disorders and body appreciation, among women with LS and TS.	Day 0
Self-esteem score (Rosenberg Self Esteem Scale) among women with LS	self-esteem score (Rosenberg Self Esteem Scale) among women with LS in order to assess self-esteem among women with LS and TS.	Day 0
Self-esteem score (Rosenberg Self Esteem Scale) among women with TS	self-esteem score (Rosenberg Self Esteem Scale) among women with TS in order to assess self-esteem among women with LS and TS.	Day 0
Proportion of gender identity types (Sex, Gender and Sexual orientation) among women with LS	proportion of gender identity types (Sex, Gender and Sexual orientation) among women with LS in order to assess gender identity and sexual orientation among women with LS.	Day 0
Proportion of sexual orientation types (Sex, Gender and Sexual orientation) among women with LS	Proportion of sexual orientation types (Sex, Gender and Sexual orientation) among women with LS in order to assess gender identity and sexual orientation among women with LS.	Day 0
Proportion of aesthetic surgery (Reconstructive surgery data collection form, Questions 'Aesthetic surgery') among women with LS	proportion of aesthetic surgery (Reconstructive surgery data collection form, Questions 'Aesthetic surgery') among women with LS in order to assess the use and total cost of aesthetic care	Day 0
Total Cost of aesthetic care (Reconstructive surgery data collection form, Questions 'Total cost') among women with LS.	Total Cost of aesthetic care (Reconstructive surgery data collection form, Questions 'Total cost') among women with LS in order to assess the use and total cost of aesthetic surgery	Day 0
Qualitative evaluation of sexual quality of life, self-esteem, body image perceptions and feminity using semi-structured interviews (Semi-structured interview guide) among women in the included LS and TS population	Qualitative evaluation using semi-structured interviews (Semi-structured interview guide) among women with LS and TS in order to conduct a qualitative assessment of the sexual quality of life, self-esteem, perceptions of body image and femininity among women with LS and TS.	Day 0
proportion of women who sought psychological or psychotherapeutic support (Questionnaire, section 'Psychological Support') among women with LS	proportion of women who sought psychological or psychotherapeutic support (Questionnaire, section 'Psychological Support') among women with LS to assess the use of psychological or psychotherapeutic support aimed at self-acceptance and body acceptance in women with LS and TS.	Day 0
proportion of women who sought psychological or psychotherapeutic support (Questionnaire, section 'Psychological Support') among women with TS	proportion of women who sought psychological or psychotherapeutic support (Questionnaire, section 'Psychological Support') among women with TS to assess the use of psychological or psychotherapeutic support aimed at self-acceptance and body acceptance in women with LS and TS.	Day 0

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris
• Investigators: Principal Investigator: Inès BELALEM, Nurse - Data Manager, PhDs, Assistance Publique - Hôpitaux de Paris

Study record dates

Study Major Dates

• Study Start (Estimated): October 1, 2026
• Primary Completion (Estimated): August 1, 2027
• Study Completion (Estimated): March 1, 2028

Study Registration Dates

• First Submitted: August 28, 2026
• First Submitted That Met QC Criteria: August 28, 2026
• First Posted (Actual): September 2, 2026

Study Record Updates

• Last Update Posted (Actual): September 2, 2026
• Last Update Submitted That Met QC Criteria: August 28, 2026
• Last Verified: August 1, 2026

More Information

Terms related to this study

• Keywords: Quality of Life; Turner Syndrome; Sexual Health; Lipodystrophy; Body Image; Body Dissatisfaction; Body Satisfaction
• Additional Relevant MeSH Terms: Laminopathies; Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases; Male Urogenital Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Heart Diseases; Genetic Diseases, Inborn; Metabolic Diseases; Gonadal Disorders; Skin Diseases; Congenital Abnormalities; Cardiovascular Abnormalities; Heart Defects, Congenital; Lipid Metabolism Disorders; Disorders of Sex Development; Urogenital Abnormalities; Lipid Metabolism, Inborn Errors; Sex Chromosome Disorders; Chromosome Disorders; Skin Diseases, Metabolic; Sex Chromosome Disorders of Sex Development; Gonadal Dysgenesis; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Lipodystrophy; Turner Syndrome; Lipodystrophy, Familial Partial
• Other Study ID Numbers: APHP251569; IDRCB : 2025-A02393-46 (Other Identifier: ANSM)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

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