Abstract

: The sexuality of 46,XY DSD individuals can be affected by several factors as external genitalia appearance, negative body image, traumas, social stigma, and previous genital surgery. Previous studies has been reported an impaired sexual quality of life (SexQoL) in 46,XY DSD individuals in comparison with controls. To observe aspects regarding sexual life, 144 individuals with 46,XY DSD (100 female; 44 male) were enrolled in this study. All of them were adults (>16 years old) and had completed all surgical treatments. Sexual life and fertility issues were assessed using self-developed questionnaire with likert-scale questions. Sexual orientation was assessed on the basis of orientation, sexual behavior and sexual attraction. For comparison, the cohort was divided into 3 subgroups (A: gender at adulthood; B: genitalia appearance at birth; and C: male individuals at adulthood who were assigned as male versus who changed from female to male). About fertility issues, 12 individuals (8%) had children (7 male; 5 female). 10 out of 12 were adopted children and 2 patients had children by Intravaginal insemination (IVI). Desire of fertility was similar in women and men (78.3%, 80.7% respectively; p = NS). Fear of rejection due to infertility was reported by 28% (34 out of 117). More women than men considered infertility a barrier to a steady relationship (p=0.04). Regarding sexual orientation, more than 90% referred themselves as heterosexual. Homosexuality was reported by 4% in both genders. Most 46,XY DSD women reported androphilic sexual attraction and female sexual behavior (have sex with male partners), regardless of the appearance of external genitalia. The opposite (gynephilic sexual attraction and male sexual behavior) was observed in most male patients either in individuals who were assigned male at birth and in individuals who changed from female to male. Regarding sexual life, there was significant difference between males and females on sexual fantasies, masturbation practice and fixed sexual partner, which were more frequent in males. Nevertheless, both gender reported a similar sexual life satisfaction (76% and 80%). All sexual parameters were similar comparing individuals who changed from female to male and who were assigned as male. In conclusion, sexual life satisfaction was reported by the majority of adult patients with 46,XY DSD in both gender. Among female patients, the appearance of external genitalia did not influence on sexuality, once the surgical correction of atypical genitalia have been performed. In male individuals, the sexual life was similar either if they were assigned as male or changed for that gender later. Fertility desire was common among 46,XY DSD people, regardless of gender or 46,XY etiology, which should be taken into consideration in the 46,XY DSD management.

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