Hamartoma in a pubertal patient with complete androgen insensitivity syndrome and R(831)X mutation of the androgen receptor gene

Abstract

Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder. Individuals with CAIS ordinarily have normal breast development, pubertal feminization, bilateral testes, female external genitalia, a blind-ended vagina, and no müllerian derivatives. The actual frequency of malignant gonadal tumors among this group has been estimated to be no more than 5%; the risk of gonadal malignancy in CAIS is considered low in women before 25 years of age (1). Benign tumors such as hamartomas, Sertoli cell adenomas, and, rarely, Leydig cell tumors have been reported in association with CAIS (1).