Androgen insensitivity syndrome (AIS; Online Mendelian Inheritance in Man 300068;
ORPHA99429; International Classification of Diseases 10th Revision: E34.5) is an X-linked
recessive genetic disease that is a result of mutations in the androgen receptor (AR) gene (Xq11-q12). AIS is characterized by the resistance of target tissues to androgens,
is present in individuals with the 46,XY karyotype, and has a highly variable phenotype.
AIS individuals usually develop as women from birth or childhood. At present, AIS
is preferred to other terms used in the past (testicular feminization syndrome, Morris
syndrome)
1
because the patients and their relatives are more comfortable with it and because
it more accurately describes the disease's pathophysiology.
2
Key Words
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Article info
Publication history
Published online: October 13, 2016
Footnotes
The authors indicate no conflicts of interest.
