•A seminoma developed in a patient with androgen insensitivity syndrome.•The patient had a de novo androgen receptor mutation.•Proper management of AIS, including appropriate genetic counseling, is necessary.

Androgen insensitivity (testicular feminization) syndrome is a rare inherited form of male pseudohermaphroditism that occurs in phenotypically normal women with adequate breast development, normal external genitalia, a vagina of variable depth, absent uterus, and sparse or absent pubic hair and axillary hair. These patients have male karyotype (XY) and negative sex chromatin. The gonad (undesce...

Androgen insensitivity syndrome (AIS) is caused by mutations in the gene encoding the androgen receptor (AR). The incidence of AIS is estimated to be 1 in 99,000. Complete androgen insensitivity syndrome (CAIS) is characterized by a 46,XY karyotype with external genitalia that appear typically female and results from mutations that render the androgen receptor non-functional. Partial androgen i...

Androgen insensitivity (testicular feminization) syndrome is a rare inherited form of male pseudohermaphroditism that occurs in phenotypically normal woman with male karyotype (XY). The undescended testis may go into malignant transformation. The androgen insensitivity syndrome with malignant testicular disorder is very rare. A thirty-one year old female was admitted to the hospital with the co...