@article {10773,
	title = {Endocrine and psychological aspects of sexual dysfunction in Klinefelter patients.},
	journal = {Andrology},
	volume = {6},
	year = {2018},
	month = {2018 05},
	pages = {414-419},
	abstract = {<p>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 na{\"\i}ve 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.</p>},
	issn = {2047-2927},
	doi = {10.1111/andr.12474},
	author = {Ferlin, A and Selice, R and Angelini, S and Di Grazia, M and Caretta, N and Cavalieri, F and Di Mambro, A and Foresta, C}
}
@article {8293,
	title = {The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype.},
	journal = {Andrology},
	volume = {4},
	year = {2016},
	month = {2016 Mar},
	pages = {328-34},
	abstract = {<p>The Klinefelter syndrome (KS) is the most frequent sex chromosomal disorder in males, characterized by at least one supernumerary X chromosome (most frequent karyotype 47,XXY). This syndrome presents with a broad range of phenotypes. The common characteristics include small testes and infertility, but KS subjects are at increased risk of hypogonadism, cognitive dysfunction, obesity, diabetes, metabolic syndrome, osteoporosis, and autoimmune disorders, which are present in variable proportion. Although part of the clinical variability might be linked to a different degree of testicular function observed in KS patients, genetic mechanisms of the supernumerary X chromosome might contribute. Gene-dosage effects and parental origin of the supernumerary X chromosome have been suggested to this regard. No study has been performed analyzing the genetic constitution of the X chromosome in terms of copy number variations (CNVs) and their possible involvement in phenotype of KS. To this aim, we performed a SNP arrays analysis on 94 KS and 85 controls. We found that KS subjects have more frequently than controls X-linked CNVs (39/94, [41.5\%] with respect to 12/42, [28.6\%] of females, and 8/43, [18.6\%] of males, p < 0.01). The number of X-linked CNVs in KS patients was 4.58 {\textpm} 1.92 CNVs/subject, significantly higher with respect to that found in control females (1.50 {\textpm} 1.29 CNVs/subject) and males (1.14 {\textpm} 0.37 CNVs/subject). Importantly, 94.4\% X-linked CNVs in KS subjects were duplications, higher with respect to control males (50.0\%, p < 0.001) and females (83.3\%, p = 0.1). Half of the X-linked CNVs fell within regions encompassing genes and most of them (90\%) included genes escaping X-inactivation in the regions of X-Y homology, particularly in the pseudoautosomal region 1 (PAR1) and Xq21.31. This study described for the first time the genetic properties of the X chromosome in KS and suggests that X-linked CNVs (especially duplications) might contribute to the clinical phenotype.</p>},
	issn = {2047-2927},
	doi = {10.1111/andr.12146},
	author = {Rocca, M S and Pecile, V and Cleva, L and Speltra, E and Selice, R and Di Mambro, A and Foresta, C and Ferlin, A}
}
