Quynh Thi Vu Huynh

Complete androgen insensitivity syndrome in two siblings with a pathogenic androgen receptor gene variant: a case series

Complete androgen insensitivity syndrome (CAIS) is a rare X-linked disorder caused by pathogenic variants in the androgen receptor (AR) gene, resulting in complete resistance to androgen action in individuals with a 46,XY karyotype. Familial cases of CAIS provide important insigh...