12th April 2024

Androgen insensitivity syndrome

Androgen insensitivity syndrome (AIS) is a condition with a genetic defect of the androgen receptor. It is inherited in an X-linked recessive pattern. There are three types of AIS – complete with receptors that do not respond to androgens at all, partial with some functioning receptors and mild insensitivity with masculinisation of external genitalia. In most cases, the affected individuals are infertile.

Symptoms

Investigation

Ultrasound of the pelvis would reveal an absence of the uterus and testes that have failed to descend into the scrotum. Blood tests would reveal an elevated level of testosterone.

Management

Treatment includes hormone replacement therapy, which could be male or female sex hormones depending on the gender role that the individual identifies with. Surgery is also done to remove the testes to reduce the risk of cancer. Corrective surgery may also be done to correct the external genitalia.