It has been reported previously with a discrepancy between the fetal phenotype and the results of sex chromosome analysis following invasive prenatal tests.1, 2Androgen insensitivity syndrome (AIS; Online Mendelian Inheritance in Man [OMIM]: 300068) is an X-linked recessive genetic disorder with an XY karyotype, caused by androgen receptor defects.1 Here, AR is linked to androgen insensitivity syndrome.