Aspectos comportamentais e do desenvolvimento psicossexual dos pacientes com distúrbios do desenvolvimento sexual 46,XY na idade adulta

Abstract

AgradecimentosA todos os pacientes cujas histórias estão -em parte -contadas aqui.À professora Berenice Bilharinho de Mendonça, pela liberdade para a minha curiosidade. Por me apresentar o universo encantador do desenvolvimento, com o qual eu já me identificava antes mesmo de saber. Por ensinar que, tão importante quanto um diagnóstico, é entender como a pessoa se sente.À Marlene Inácio, pela generosidade em partilhar seus dados, seu conhecimento, sua alegria. Pela leveza. Cada pedaço desta tese é também desenhado por você.À Dra Sorahia Domenice e à Dra Elaine Frade Costa, por todos os ensinamentos, pelo acolhimento, por tantas oportunidades. We found an association between prenatal androgen exposure and major prevalence of male psychosexual outcomes and a higher incidence of female to male gender dysphoria. There was not difference in the psychosexual outcomes according by external genitalia virilization in male and in female individuals. There was an incidence of 19% of gender dysphoria (27 out from 144). In 93% (n=25), the gender change was from female to male (F to M). The ethological diagnosis related with F to M GD were 5α-RD2 deficiency (5ARD2) in 16/32 (50%), followed by 5/15 (33%) in 17β-HSD3 deficiency (17βHSD3). Others diagnosis related with F to M GD were: partial gonadal dysgenesis (n=3/24; 12%) and 3βHSD2 (n=1/3; 33%). Both cases of male to female (M to F) GD occurred in partial gonadal dysgenesis (8%; n=2/24). The median of GD age (desire to belong to another gender) was 8 years old (5-9), and the median of gender change itself was 15 years old (10.5 -20). In F to M GD, gender change was associated with prenatal androgen exposure (p<.001; V=0,461). The psychosexual components showed higher concordance index with final gender (GI -k=0.81; GI -k=0.65 and SO -k=0.85) then with the assigned sex (GI -k=0.1; GI -k=0.25 and SO -k=0.15). Conclusion: Prenatal androgen exposure affects the psychosexual development, favoring more male outcomes. This influence was observed in GI, GR and SO. The degree of external genitalia virilization did not influence the psychosexual development. Female to Male GD is common in 46,XY DSD raised in female social sex, especially in 5ARD2 and 17βHSD3 deficiencies. There is a strong relationship between prenatal androgen exposure and F to M GD. On the other hand, M to F gender change was rare in 46,XY DSD and occurred only in partial gonadal dysgenesis patients.

Female urogenital reconstruction in a case of sexual development disorder (46, XY) with cloacal exstrophy associated with diphallia

“…Cloacal exstrophy in individuals with XY karyotype may represent a complex malformation, considering the critical change in the urogenital anatomy. This factor often favors, due to technical issues, the performance of feminizing genitoplasty instead of penile reconstruction or phalloplasty (3). Another relevant factor is the growing number of gender identity problems in this group of patients.…”

“…DSD-related phenotypic sex determination is generally neither binary nor immediate, with some degree of genital ambiguity. Gender identity and the role of gender in cases of DSD can also present themselves in a complex way, being challenging to elucidate in advance, with consequences for the global development of the affected child (3).…”