True about Androgen Insensitivity Syndrome :

Androgen Insensitivity Syndrome Complete AIS (testicular feminization) is a form of male pseudohermaphroditism, referring to the gonadal sex (male) and the contrasting phenotype (female) Normal male karyotype (46,XY) and testes that produce both testosterone and AMH are present 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 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) Mainly present with Primary Amenorrhea May be present at bih or childhood with inguinal mass or hernia Patients with complete AIS generally are easily distinguished from those with mullerian agenesis by the absence of pubic and axillary hair A serum testosterone concentration easily distinguishes patients with AIS because levels are normal or modestly elevated above the range observed in normal males and well above the normal range for females A karyotype (46, XY) firmly establishes the diagnosis Treatment of patients with complete AIS has two major components Creation of a functional vagina , and Gonadectomy relating to the risk for developing malignancy in the cryptorchid testes Gonadectomy is better delayed due to Smooth pubeal development that results from endogenous hormone production is difficult to achieve with exogenous hormone treatment Gonadal tumors develop less often in patients with AIS and rarely before pubey Ref: Clinical Gynecologic Endocrinology and Infeility; Eigth edition; Chapter 11