Is there a test for androgen insensitivity syndrome?
The answer depends upon exactly what you are looking for–diagnostic information, or carrier status. If were born with female genitals and testes, and have very sparse or absent pubic hair, you most likely have complete AIS. If you were born with ambiguous genitals and testes, there are a number of possible etiologies, including partial AIS. Testing for partial AIS is more problematic than the complete form. Hormonal tests in a newborn with 46 XY karyotype and ambiguous genitals will show normal to elevated testosterone and LH, and a normal ratio of testosterone to DHT. A family history of ambiguous genitals in maternal relatives suggests partial androgen insensitivity. If you are wondering if you are a carrier, or if you know that you are a carrier and are wondering about the status of your fetus, genetic testing is possible. AIS has been diagnosed as early as 9-12 weeks gestation by chorionic villus sampling (sampling tissue from the fetal side of the placenta). By the 16th week it c
