On the basis of investigation and observation of 41 individuals with
androgen insensitivity syndrome (AIS) author confirms that at the phenotypic female and genotypic male patients the value of
testosterone in plasma is 6.4 +/- 1.6 mg/ml, corresponding to that characteristic to healthy males. In the classical form there is absent or very scarce pubic hair in 100%, normal development of breasts in 97% of cases, blind vagina of mean length 5.0 +/- 2.3 cm in 97% of cases and
inguinal hernia in 30% of cases. In the incomplete form of AIS normal breasts occurs in 62.5%, public hair in 50%, complete
absence of vagina in 62.5%, blind vagina of mean length 2.5 cm in 37.5%,
inguinal hernia in 75% and
hypertrophy of clitoris of mean length 2.0 +/- 1.0 cm in 62.5%, what distinguishes this form of the syndrome from classical form. In incomplete form surgery for
inguinal hernia in 87.5% is necessary. In 37.5% artificial vagina has to be created. Classical form occurs in 80.5% and incomplete form in 19.5%. The malignity of the gonads in the discussed syndrome is rare.
Castration should be avoided before the patient attains full sexual maturity. Normal value at
testosterone level characteristic for men suggests that the lack of sensitivity to
androgens of the target cells is the main cause of the disease and is definitively caused by mutations in the
androgen receptor gene.