Showing posts from October, 2020

Androgen insensitivity syndrome

What happens in AIS? Type of DSD - Disorder of sexual differentiation  Androgen receptor defect  X-linked disorder  Resistance to the action of androgen  Complete AIS  Severe impairment of androgen receptor (AR) function. The diagnosis, which is typically made in an adolescent or young adult woman, is based upon a constellation of clinical and biochemical findings, including: ● Female phenotype with normal breast development ● Primary amenorrhea ● Little or no axillary or pubic hair ● Absent uterus, but testes present ● 46,XY karyotype ● Blind vaginal pouch on exam ● Serum testosterone concentrations in the usual adult male range, normal to elevated luteinizing hormone (LH), and inhibin B in the mid-normal male reference range