Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096p139 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | IMPE2023

Clinical, Psychological, and Molecular Aspects of a Large Androgen Insensitivity Syndrome Cohort

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 ...