Androgen insensitivity syndrome is a rare form of male pseudo hermaphroditism. It may be classified as complete and incomplete forms. The incidence of the complete form has been reported to be 1/20.000-64.000, which is 10-folds that of the incomplete form 1,3,5
. Complete androgen insensitivity syndrome (CAIS) is a condition that results in the complete inability of the cell to respond to androgens. The unresponsiveness of the cell to the presence of androgenic hormones prevents the masculinization of male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics at puberty, but does not significantly impair female genital or sexual development. Partial androgen insensitivity syndrome (PAIS) is a condition that results in the partial inability of the cell to respond to androgens. The partial unresponsiveness of the cell to the presence of androgenic hormones impairs the masculinization of male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics at puberty, but does not significantly impair female genital or sexual development. Recognition that patients with complete androgen insensitivity syndrome (CAIS) have profound resistance to the action of androgen came from studies in which affected women were found to be resistant to the virilizing action of exogenous androgen. This hormone resistance was found to be due to defects in androgen receptor (AR) function as a result of studies of women with CAIS who had no detectable AR binding, qualitatively abnormal AR binding, or decreased amounts of qualitatively normal receptor binding. Similar findings were described in patients with the less severe phenotypes 1-3
. The phenotype was complete female in our case.
Symptoms such as primary amenorrhea, inguinal swelling, and inguinal hernia are observed in patients with androgen insensitivity syndrome as in our case. Related to the androgen insensitivity syndrome, many types of tumors have been defined, especially in the post-pubertal patients. The origin of the tumor may be testicular germ cells, testicular stromal cells or other mesenchymal cells 1,4,6. Benign neoplastic tissue may be observed in approximately 20-23% of the cases. A form of this is multiple or bilateral well-contoured yellowish hamartomatous nodules including Sertoli cell groups and defined as Sertoli cell adenoma 1. Due to the low risk of gonadal tumor development before puberty, many clinics recommend gonadectomy after puberty or in early adulthood in patients with androgen insensitivity syndrome 1,5,7. Gonadectomy was performed in our case. Slijper et al. 8 detected feelings such as surprise, anger or guilt upon the first diagnosis in these patients and relatives; thus, the diagnosis should be carefully declared.
Bilateral Sertoli cell adenoma and concomitant serous cystadenoma or paratesticular leiomyoma have been reported in the literature, but no such co-existence was the case for our patient. However, it should be considered that different lesions may be observed on the histopathological examination 1,3,8,9.