Introduction: Complete androgen insensitivity syndrome (CAIS), formerly known as testicular feminization, is a genetic disorder preventing the development of primary and secondary sexual characteristics in men. It is inherited in an X-linked recessive pattern, usually from mothers carrying an altered copy of the AR gene on one of their X chromosomes. In other cases the mutation occurs de novo in the ovaries before pregnancy or during the early fetal period. It occurs in one out of 20,000 births.
Materials and methods: Research is based on literary analysis from articles by Medscape and PubMed, containing the term `testicular feminization`.
Results: The main reason for the condition is the body`s inability to respond to testosterone secretion. This insensitivity causes a failure of normal masculinization of external genitalia. The person has phenotypically female genitalia, despite having 46, XY karyotype. Children are raised and treated as females and have a female gender identity. They have normal breast development and sparse or absent pubic and axillary hair. The most common reason for discovering the condition is the lack of menstruation in puberty. Ultrasonography shows testicles and lack of ovaries, fallopian tubes and uterus. Sometimes the clitoris and labia can be underdeveloped, the vagina can be aplastic or with a shorter depth. Diagnosis can be made with hormonal tests, showing high levels of testosterone, estrogen, luteinizing hormone. DNA analysis reveals normal 46, XY karyotype and a mutation in the androgen receptor, located in band Xq11-13. The first step of treatment is removing the testicles (orchiectomy), due to the high risk of malignancy. Other areas of management include genitoplasty, a hormone replacement therapy with estrogen.
Conclusion: Course of treatment is managed by a team effort of specialists from different departments. The inability to conceive a child remains the most significant issue, leading to psychological trauma.
