ESPE Yearbook of Paediatric Endocrinology

Brief summary: This cross-sectional single tertiary center study analyzed the aspects of sexual life and fertility desire among a large cohort of adults with 46,XY DSD in Brazil. The influence of critical variables such as external genital appearances, prenatal androgen exposure, and gender change in the sexuality of 46,XY DSD people were investigated.

There is sparse literature on the sexual function of 46,XY DSD conditions due to their rarity and heterogeneity and sub-optimal long-term follow-up. Such studies were conducted in different countries with cultural variations in expectations for sexual life and sexual function. Therefore, they report discrepant factors in adults with 46,XY DSD who feel dissatisfaction with their sexual lives including external genitalia appearance, prenatal steroids exposure, the incongruence between gender identity and sex assignment, negative body image, traumatic sexual experiences, social stigma, poor familial environment, and previous genital surgery. Understanding their unique needs is crucial to helping individuals achieve good sexual health.

In this study, Batista RL et al. included 127 adults with 46 XY, DSD and investigated sexual life parameters and fertility desire according to subgroups: gender in adulthood: females (n=83) vs. males (n=44); external genitalia appearance at birth in female 46,XY DSD individuals: typical female genitalia (n=60) vs. atypical external genitalia (n=35); male gender in adulthood: 46,XY DSD individuals who were assigned male at birth (n=20) vs. 46,XY DSD individuals who changed from female to male gender (n=24). They found that fertility desire was reported approximately 80% among 46,XY DSD people regardless of gender. Prenatal androgen exposure affected fertility desire negatively in 46,XY women. The onset of sexual life in both genders was later than the age reported in the Brazilian population. Sexual frequency and satisfaction with sexual life were similar in both genders except for more active sexual life in adult males who changed from female to male than those assigned as male. Virilized external genital appearance at birth did not have a negative effect on sexual relations and sexuality among 46,XY DSD women once all feminizing genital surgeries have been performed. More women than men had difficulties in establishing long-term romantic relationships due to concerns about infertility. Collectively, these results expand the knowledge about sexuality in 46,XY DSD people.