AIS is associated with an Androgen Receptor locus on the long arm of the X chromosome (Xq11-q12). Individuals have the XY karyotype typical of males, but develop physically and psycho-sexually as typical females. Development of some secondary sex characteristics (e.g., enlargement of the breasts) may be unimpaired, whereas axillary and pubic hair are typically absent. A stereotype (with some support from clinical studies) is that AIS women are often tall, thin, and unusually attractive, which has led to unfounded rumors that various actresses or models have AIS. Often, individuals with AIS are diagnosed only when they fail to menstruate at puberty. AIS appears to be due to an inability of tissues to respond to androgen. Women with TFS are invariably sterile, with a blind vagina, underdeveloped uterus, and (typically) rudimentary testes. Consequently, the AIS allele is not passed on by XY individuals, but by their asymptomatic heterozygous XX sisters.

     The photo above is an example of a typical practice in older genetics and medical textbooks, in which various medical syndromes are 'medicalized' by presenting them as anonymized [taped eyes] bodies in unflattering photographs, rather than as people [below]. While familiarity with the physical characteristics of genetic syndromes is an important part of medical education, it may be argued whether such presentations stigmatize individuals. Group and peer acceptance is typically a major factor for affected individuals.

     Institution of gender testing in international athletic competition, notably the 1968 Olympic Games, was intended to identify male athletes who allegedly sought a competitive advantage by "passing" as female, after having undergone hormone treatment. No such individuals were detected, however women with AIS and an XY karyotype who therefore "tested negative" for Barr Bodies were routinely identified, and in some cases deprived of their medals. This goes to general questions of LGBT persons in sport. The older designation of this syndrome as TFS has been replaced by AIS, because of the implication that the women are "feminized men" rather than women with an atypical karyotype.