Klinefelter syndrome is a frequent cause of
hypogonadism, but despite hundreds of publications on different aspects of
Klinefelter syndrome, only a few studies dealt with sexual dysfunction. In particular,
testosterone is critical for various aspects of sexual response, but its role on sexuality in
Klinefelter syndrome patients is debatable and no studies have evaluated the efficacy of
testosterone treatment on sexual dysfunction in these subjects. Furthermore, the impact of psychological and relational aspects on sexual function of
Klinefelter syndrome subjects is poorly defined. In this study, we aimed to determine the presence and type of sexual dysfunctions in
Klinefelter syndrome subjects; to correlate them with
testosterone levels and psychosexological and relational domains; and to evaluate the effects of
testosterone therapy. We studied 62 non-mosaic naïve
Klinefelter syndrome patients and 60 age-matched controls by means of medical history, psychosexological history, 15-item International Index of Erectile Function questionnaire, endocrine assessment, and dynamic penile color Doppler ultrasound. Twenty-five hypogonadal
Klinefelter syndrome patients were studied after 6 months of
testosterone replacement
therapy.
Klinefelter syndrome subjects have reduced 15-item International Index of Erectile Function scores regarding sexual desire, intercourse satisfaction, and overall satisfaction with respect to controls, and these aspects were significantly associated with
testosterone levels.
Klinefelter syndrome subjects had also higher prevalence of
erectile dysfunction, but no relation with
testosterone levels was evident. A high prevalence of a range of psychological disturbances was present in
Klinefelter syndrome subjects with
erectile dysfunction with respect to those without
erectile dysfunction. No statistical difference in the prevalence of premature and
delayed ejaculation was observed between
Klinefelter syndrome and control subjects.
Testosterone replacement
therapy improved sexual desire, intercourse satisfaction, and overall satisfaction scores, but had no effect on erectile function. Penile color Doppler ultrasound was normal in all subjects. This study shows that sexual dysfunction in
Klinefelter syndrome is multifactorial and related only in part to
hypogonadism and largely to psychological disturbances. Evaluation and
therapy of sexual dysfunction should include a combined andrological and psychosexological approach.