What characterizes Androgen Insensitivity Syndrome?

Androgen Insensitivity Syndrome (AIS) is characterized by the presence of a genotypic male, typically having an XY chromosome pattern, who develops phenotypic female characteristics due to the body's inability to respond to androgens, the male hormones. This syndrome results from mutations in the androgen receptor gene, which inhibits the action of testosterone and other male hormones. As a result, individuals with AIS often present with female external genitalia and secondary sexual characteristics despite being genetically male.

The description accurately reflects the condition's key features by emphasizing how the genetic makeup does not align with the physical manifestations. This is a significant aspect of AIS, highlighting the complex interaction between genetics and hormonal activity during sexual differentiation.