ISSN 1662-4009 (online)

ey0020.4-1 | Sexuality, Fertility and Fertility Optimization in DSD | ESPEYB20

4.1. Sexuality and fertility desire in a large cohort of individuals with 46, XY differences in sex development

RL Batista , M Inacio , VN Brito , MHP Sircili , MJ Bag , NL Gomes , EMF Costa , S Domenice , BB Mendonca

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 hetero...

ey0019.6-10 | Basic and Genetic Research of DSD | ESPEYB19

6.10. Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46, XY differences of sex development

NL Gomes , RL Batista , MY Nishi , AM Lerario , TE Silva , Moraes Narcizo A de , AFF Benedetti , Assis Funari MF de , Junior JA Faria , DR Moraes , LML Quintao , LR Montenegro , MTM Ferrari , AA Jorge , IJP Arnhold , EMF Costa , S Domenice , BB Mendonca

J Clin Endocrinol Metab. 2022 Apr 19;107(5):e1797-e1806. PMID: 35134971, doi: 10.1210/clinem/dgac064. Brief Summary: This retrospective clinical research reports the clinical/biochemical, radiological, and genetic findings of a large cohort of 209 non-syndromic 46,XY DSD patients from a single tertiary center collected over the last 25 years in Brazil. A molecular diagnosis was achieved in 59....