A novel androgen receptor mutation in a patient with complete androgen insensitivity syndrome

Androgen insensitivity syndrome (AIS) occurs when target tissues are resistant to the effect of androgens resulting in phenotype with varying degrees of feminization ranging from male infertility to completely normal female external genitalia in patients with male karyotype. Androgen receptor (AR) following activation by androgenic hormones binds to DNA in cells of target tissues and induces biological changes leading to differentiation and development of male urogenital structures. To date, more than 800 mutations in AR gene have been described in patients with AIS with the majority being located in the ligand-binding domain. Here a detailed description of a family with two affected 46,XY females with complete androgen insensitivity is provided. Whole exome sequencing revealed a novel mutation in exon 1 (c.238C>T) of AR gene. The mutation was detected in a proband and her sister, both with normal male karyotype and phenotypic expression of complete androgen insensitivity syndrome.