Androgen insensitivity syndrome (AIS, or "Androgen resistance syndrome") is a set of disorders of
sexual differentiation that results from
mutations of the gene encoding the
androgen receptor. It has also been called androgen resistance in the medical literature. The nature of the resulting problem varies according to the structure and sensitivity of the abnormal receptor. Most of the forms of AIS involve variable degrees of
undervirilization and/or
infertility in
XY persons of either sex. A woman with complete androgen insensitivity syndrome (CAIS) has a female external appearance despite a 46XY
karyotype and undescended
testes, a condition termed testicular feminization in the past.
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An X-linked trait that causes XY individuals to develop into phenotypic females. A mutation causes loss of sensitivity to testosterone.
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