A disorder of sexual development 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.

Androgen insensitivity syndrome (AIS) is a condition involving the inability to respond to androgens, typically due to androgen receptor dysfunction. It affects 1 in 20,000 to 64,000 XY (karyotypically male) births. The condition results in the partial or complete inability of cells to respond to androgens...