Androgen insensitivity syndrome

Androgen insensitivity syndrome is an inherited condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome. Because their bodies are unable to respond to certain hormones (called androgens), they may have mostly female sexual characteristics or signs of both male and female sexual development.

Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. Partial or mild androgen insensitivity syndrome results when tissues are partially sensitive to the effects of androgens.

Complete androgen insensitivity syndrome affects 2 to 5 per 100,000 live male births. Partial androgen insensitivity is at least as common as complete androgen insensitivity. Mild androgen insensitivity is much less common.

Mutations in the AR gene cause androgen insensitivity syndrome.

The AR gene provides instructions to make a protein called an androgen receptor. This protein allows cells to respond to androgens, which are hormones (such as testosterone) that direct male sexual development. Mutations in the AR gene prevent the androgen receptor from working properly, which makes cells less responsive to androgens or prevents cells from using these hormones at all. Depending on the level of androgen insensitivity, sexual characteristics can vary from mostly female to mostly male.

This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the gene that causes the disorder is located on the X chromosome (one of the two sex chromosomes). In males, who have only one X chromosome, one altered copy of the gene is sufficient to cause the condition. Males are affected by X-linked recessive disorders much more frequently than females.

About two-thirds of cases are inherited from a woman who carries an altered copy of the AR gene on one of her two X chromosomes. The other one-third of cases result from a new mutation in a mother’s egg cell before the child is conceived.

You may find the following resources about androgen insensitivity syndrome helpful.

• MedlinePlus - Health Information (4 links)
• Educational resources - Information pages
  Madisons Foundation
• Patient support - For patients and families (3 links)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

• Gene Reviews - Clinical summary
• Gene Tests - DNA tests ordered by healthcare professionals
• PubMed - Recent literature
• OMIM - Genetic disorder catalog

See How are genetic conditions and genes named? in the Handbook.

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• What does it mean if a disorder seems to run in my family?
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These links provide additional genetics resources that may be useful.

• Genetics and health
• Resources for Patients and Families
• Resources for Health Professionals

androgens ; chromosome ; deficiency ; gene ; hormone ; mutation ; new mutation ; protein ; puberty ; receptor ; recessive ; sign ; testosterone ; X-linked recessive

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.