Chapter 163 Androgen Insensitivity (Resistance) Syndrome
INTRODUCTION
Description: Patients with androgen insensitivity have a normal male karyotype but a genetic alteration that results in somatic cells that cannot recognize or respond to testosterone. This results in a normal female phenotype, absent uterus, and scant (or absent) body hair. The syndrome was known at one time as “testicular feminization.”
ETIOLOGY AND PATHOGENESIS
Causes: Testosterone and gonadotropin levels are essentially normal (there may be a slight increase in luteinizing hormone [LH]), but the testosterone is biologically ineffective because of the body’s inability to use it. Consequently, masculinization does not take place, and the normal production of Müllerian-inhibiting factor results in regression of the upper genital tract and a blind vaginal pouch.
