impe0096p139 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | IMPE2023
Loch Batista Rafael
, Inacio Marlene
, Caroline Afonso Ane
, Carvalho Filomena
, Ramos Raquel
, Craveiro Flora
, Dallago Renata
, Tereza Ferrari Maria
, Batatinha Julio
, Nishi Miriam
, Domenice Sorahia
, Bilharinho Mendonca Berenice
Introduction: Androgen Insensitivity Syndrome (AIS) is the most common cause of the 46,XY Differences in Sexual Development (DSD). It is an X-linked genetic disease caused by allelic variants in the Androgen Receptor Gene (Xq11-12). Methods: Patients with clinical suspicion of AIS performed hormonal serum analysis (LH, FSH, estradiol, testosterone) and whole AR gene sequencing. Psychosexual variables (gender identity, gender role, and sexual orientation) were ...