Causes and Genetics of AIS Androgen Insensitivity Syndrome is caused by mutations in the AR gene (androgen receptor gene), which is located on the X chromosome. While looking at the causes and genetics of AIS, it is found that this gene provides instructions for making androgen receptors — proteins that allow the body to respond to testosterone and other male hormones. When the AR gene is faulty, the body cannot process androgens properly, leading to incomplete male sexual development in people with XY chromosomes. Inheritance Pattern AIS is inherited in an X-linked recessive pattern: A mother who is a carrier has a: Types of AIS Genetic testing can confirm the diagnosis by identifying the AR gene mutation. In South Africa, genetic counselling services are available at specialised centres and academic hospitals. 👉 [Next: Diagnosis of Androgen Insensitivity Syndrome] Complications of Androgen Insensitivity Syndrome Martin Herbst Physiotherapist Pretoria East Treatment for Androgen Insensitivity Syndrome Androgen Insensitivity Syndrome