Androgen Insensitivity Syndrome

Also known as: AIS.

What is androgen insensitivity syndrome?

Androgen insensitivity syndrome is a genetic condition in which an individual has the X and Y chromosome of a male, but an incomplete or absent development of male genitalia. It occurs because the body does not respond to male hormones known as androgens.

What causes androgen insensitivity syndrome?

Genetic defects on the receptor for androgens, located on the Y chromosome, lead to androgen insensitivity syndrome. These make the body unreceptive to the typical impacts of androgens.

What are the symptoms of androgen insensitivity syndrome?

Androgen insensitivity syndrome ranges in severity. Some people with the disease have normal male characteristics with infertility, others have genitalia that is neither clearly male nor female, with a small penis and the urethral opening lower in the penis or at the base of the penis and undescended testicles, while others have a completely female appearance.

What are androgen insensitivity syndrome care options?

Medical treatment for androgen insensitivity syndrome will vary based on the parents, medical and psychological teams, as well as the patient’s wishes and preferences. Gender assignment will depend on the physical findings and response to testosterone treatment. Further care is individualized based upon clinical variance.

Reviewed by: Alejandro Diaz, MD

This page was last updated on: October 18, 2021 12:33 PM

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