Exploring the interplay of karyotype, hormones, sexuality, and body image perception in individuals with Turner syndrome.

PURPOSE: Most patients with Turner Syndrome (TS) require Hormone Replacement Therapy (HRT). Androgen levels could be compromised due to both ovarian insufficiency and HRT. Despite this, the association between androgen deficiency, sexual health, and body image perception remains underexplored in these patients. This study aimed to assess hormone levels, sexual function, and body image perception in women with TS, categorized by karyotype and HRT regimen. METHODS: A cross-sectional analysis of 29 patients with TS was performed. Clinical, hormonal, and ultrasonographic pelvic parameters were evaluated. Sexual function and body image perception were measured using the Female Sexual Function Index (FSFI) and the Body Uneasiness Test (BUT) questionnaires. RESULTS: The cohort included individuals with X chromosome monosomy (Group A), structural X chromosome alterations in some cell lines (Group B) or in all cell lines (Group C), and cells with 46, XX karyotype and monosomy (Group D). Group A and B compared to Group D displayed lower calculated free testosterone (p = 0.006, p = 0.032) and free androgen index levels (p = 0.007, p = 0.025). DHEA-S values differed between groups A and D (p = 0.043) and between groups A and C (p = 0.044). Sexual activity was reported by approximately half of patients (51.7%), with 57% of them presenting sexual dysfunction. Additionally, 44.8% exhibited possible body image disorder. CONCLUSIONS: This study acknowledges significant phenotypic differences linked to karyotype in women with TS, highlighting the prevalence of sexual dysfunction and body image dissatisfaction. These findings emphasize the importance of addressing sexual health and body image issues in patients with rare diseases, often neglected in clinical practice.