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This study investigated genetic and phenotypic characteristics of androgen insensitivity syndrome in individuals with a 46,XY karyotype, documenting a range from complete to partial insensitivity.

This case report describes a patient with complete androgen insensitivity syndrome experiencing female pattern hair loss, suggesting that factors beyond direct androgen action may contribute to this condition in women.

This case report identifies a novel association between Graham Little–Piccardi–Lassueur syndrome and complete androgen insensitivity syndrome, suggesting the influence of androgens in the alopecias accompanying the former may be limited.

In this study, genetic testing confirmed the diagnosis of Androgen insensitivity syndrome in most CAIS patients in Tunisia and identified two previously unreported mutations in the androgen receptor gene.

This report describes a novel AR gene mutation in a female patient, contributing to androgen insensitivity syndrome, and emphasizes its potential impact on genetic counseling.