A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome

The study reported a novel androgen receptor (AR) gene mutation in a 16-year-old patient with complete androgen insensitivity syndrome (CAIS), who presented with primary amenorrhea and a female phenotype despite having a 46,XY karyotype. The patient had a history of bilateral inguinal hernia surgery in infancy and exhibited stage 5 breast development and stage 1 pubic hair development. Genetic analysis identified a novel hemizygous frameshift mutation (c.1629_1630insA; p.R544KfsX8) in the AR gene. The findings highlighted the importance of considering 46,XY disorders of sex development (DSD) and CAIS in patients with female phenotypes and specific clinical presentations, such as primary amenorrhea and early childhood hernias.