Androgen-Insensitivity Syndrome

A familial form of pseudohermaphroditism transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (receptors, androgen) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with infertility. A disorder also known as complete androgen insensitivity syndrome (cais). The 46,XY genetic male totally lacks androgen responsiveness in the target organs thus exhibits a female phenotype. A disorder also known as partial androgen insensitivity syndrome (pais). These patients exhibit partial resistance to androgenic and metabolic effects of testosterone.