Sexual Quality of Life in Female Patients With Lipodystrophy Syndromes or Turner's 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. 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

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