Complete Androgen Insensitivity Syndrome—A Review

XY Female with Complete Androgen Insensitivity Syndrome with Bilateral Inguinal Hernia

“…Androgen insensitivity syndrome is a rare disorder with an incidence of 1 in 20,000-99,000 in genetic males and a prevalence of 0.8-2.4 % in phenotypic females with inguinal hernia [1]. The basic etiology is the loss of function-mutation in the androgen receptor gene.…”

“…The testes may be located anywhere along the path of embryonic testicular descent in the abdomen, inguinal canal, or labia. About 80-90 % of individuals with CAIS develop inguinal hernia [1].…”

“…Some studies have shown carcinomatous changes in the testes of the children of CAIS in the age group of 13-14 years and it is believed that testicular biopsy is warranted as soon as the syndrome is diagnosed. Recent studies reveal a tumor incidence (dysgerminoma, gonadoblastoma) of 0.8 % in CAIS and 5.5 % in AIS overall, and the risk increases markedly after puberty and reaches 33 % at the age of 50 [1,2]. Thus, gonadectomy is advised after puberty.…”

“…Thus, gonadectomy is advised after puberty. Once the testes have been removed, estrogen needs to be supplemented to maintain the external female form and to prevent osteoporosis and cardiovascular changes due to the deprivation of estrogen [1].…”

“…Studies have shown that individuals reported psychological trauma at diagnosis, which was compounded by their interaction with the medical care system [1]. During counseling, it was found that the patient was reared as a female and was leading a happy married life.…”