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

NCT07799012 | Not Yet Recruiting

• 2 other identifiers: APHP251569IDRCB : 2025-A02393-46
• Study Type: observational
• Target: 1,416
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Lipodystrophy Congenital Generalized; Lipodystrophy, Familial Partial; Turner Syndrome

Keywords

Lipodystrophy; Turner Syndrome; Sexual Health; Quality of Life; Body Image; Body Satisfaction; Body Dissatisfaction

Outcome Measures

Primary Outcomes (2)

• 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 Outcomes (17)

• 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')

  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')

  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')

  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')

  Day 0

• proportion of women with LS with dysmorphic disorders (Body Dysmorphic Disorder Questionnaire-Aesthetic Surgery)

  Day 0

Study Arms (3)

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)

Eligibility Criteria

• Age: 18 Years+
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• \- Not applicable

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Endocrinologie, Diabétologie et Médecine de la reproduction

Paris, 75012, France

Location

MeSH Terms

Conditions

Lipodystrophy, Familial Partial; Turner Syndrome; Lipodystrophy

Condition Hierarchy (Ancestors)

Laminopathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Metabolic; Skin Diseases; Skin and Connective Tissue Diseases; Lipid Metabolism, Inborn Errors; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Gonadal Dysgenesis; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Sex Chromosome Disorders of Sex Development; Male Urogenital Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Congenital Abnormalities; Sex Chromosome Disorders; Chromosome Disorders; Gonadal Disorders; Endocrine System Diseases

Study Officials

• Inès BELALEM, Nurse - Data Manager, PhDs

  Assistance Publique - Hôpitaux de Paris

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Inès BELALEM, Nurse-Data manager-PhDs

CONTACT

00 33 149282401; Ines.belalem@aphp.fr

Judith LEBLANC, Nurse, Associate professor SU

CONTACT

Judith.leblanc@aphp.fr

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 28, 2026
• First Posted: September 2, 2026
• Study Start: October 1, 2026
• Primary Completion (Estimated): August 1, 2027
• Study Completion (Estimated): March 1, 2028
• Last Updated: September 2, 2026

Record last verified: 2026-08

Locations

FR (1)