Androgen Insensitivity Syndrome
Testicular Feminization Syndrome (TFS)] an X-linked recessive trait
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
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
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been replaced by AIS, because of the implication that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.
"Orchids": By Ksaviano - Own work, CC BY 3.0,
https://commons.wikimedia.org/w/index.php?curid=11076069; all text material ©2021 by
Steven M. Carr