ArticleJournal of endocrinological investigation2025
Sexual health in adult women with complete androgen insensitivity syndrome: a single centre cross-sectional study.
Article in Journal of endocrinological investigation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Androgen receptor mutations in familial androgen insensitivity syndrome: A metabolic reprogramming pathway to type 2 diabetes susceptibility.World journal of diabetes · 2025Review
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5 authors.
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Abstract
objectiveWe aimed to assess sexual health and body uneasiness in patients with complete androgen insensitivity syndrome (CAIS) using validated questionnaires, since literature is limited and heterogeneous.
methodsSingle-center, cross-sectional study on 34 adults with 46, XY karyotype and confirmed androgen receptor mutation (age = 34 ± 8.6 years), 29 gonadectomized and 5 with gonads in situ. All gonadectomized patients but 3 were receiving hormonal replacement therapy (HRT): 14 with transdermal oestradiol, 10 with oral oestradiol, 2 with testosterone. We measured hormonal levels and adherence to HRT, and we administered Female Sexual Function Index (FSFI), Female Sexual Distress Scale-Revised (FSDS-R) and Body Uneasiness Test (BUT) questionnaires.
resultsWe registered sexual dysfunction with FSFI score < 26.55 and FSDS-R score > 11 respectively in 77% and 52.9% of the cohort; body uneasiness (BUT-Global Severity Index > 1.2) was also present in 50%. In patients with gonads in situ, body uneasiness and sexual distress were common, with 4/5 pathological scores at FSFI and BUT, and 2/5 at FSDS-R. In gonadectomized patients, no significant differences among type of HRT and questionnaires' results were registered. Despite receiving HRT and referring optimal compliance, most (69%) patients still had oestradiol concentration < 50 pg/ml, with no significant correlation with sexual function. 10/34 patients (29%) had vaginal hypoplasia and 9 underwent vaginal dilation treatment, with no correlation with sexual scores.
conclusionsSexual dysfunction and body uneasiness are worryingly common in CAIS. Preservation of gonads and HRT do not guarantee adequate sexual function nor optimal hormone levels. Psychological and sexual aspects must be considered in the management and therapeutic choices for these patients, as they highly impact quality of life.
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