Testicular Feminising Syndrome Complete AIS (testicular feminization) is a form of male pseudohermaphroditism Gonadal sex (male) and the Contrasting phenotype (female) Normal male karyotype (46,XY) and testes that produce both testosterone and AMH An inactivating mutation in the gene encoding the intracellular androgen receptor (located on the long arm of the X chromosome, Xq) results in an end organ insensitivity to androgen actions that prevents normal masculinization of the internal and external genitalia during embryonic development Consequently, the external genitalia are those of a female (absent androgen action), the cervix and uterus are absent (due to normal AMH action), and the vagina is sho and ends blindly (derived only from the urogenital sinus) Reference: Clinical Endocrinologic Gynecology and Infeility; Eigth Edition; Chapter 11