[Androgen insensitivity syndrome. Clinical and endocrinologic study of 40 cases]

It was found on the basis of observation of 40 patients with androgen insensitivity syndrome carried out during over 25 years that in patients with female phenotype and male genotype the mean blood plasma level of testosterone was 6.4 +/- 1.6 ng/ml, corresponding to that characteristic for healthy males. In classical form of the syndrome there is absent or very scarce pubic hair in 100% of cases, normal development of mammary glands in 97% of cases, blind vagina of mean length 5.0 +/- 2.3 cm in 97% of cases and unilateral or bilateral inguinal hernia in 30.3% of cases. In the incomplete form of androgen insensitivity normal development of mammary glands occurs in 71.4%, pubic hair in 57.1%, complete absence of vagina in 57.1%, blind vagina of mean length 2.5 cm in 42.9%, inguinal hernia in 71.4% and hypertrophy of clitoris of mean length 2.0 +/- 1.0 cm in 57.1% of cases, what distinguishes this form of the syndrome from classical form. In 85.7% of cases of incomplete form surgery for inguinal hernia is necessary; in 42.9% artificial vagina has to be created. Among the patients with the syndrome, classical form occurs in 82.5% and incomplete form in 17.5% of cases. Distinguishing between the two forms is fully justified because of clinical and therapeutic reasons. Though malignancy of the gonads appears infrequently among the patients with the insensitivity syndrome, but periodical control of the state of testes, especially at adulthood is necessary. Castration should be avoided before the patient attains full sexual maturity. Normal value of testosterone level, characteristic for men, suggests that lack of sensitivity to androgens of the target cells is the main cause of the disease.