Is Androgen Insensitivity Syndrome hereditary?

Androgen Insensitivity Syndrome is a genetic condition caused by mutations in the AR gene, which is located on the X chromosome. It is inherited in an X-linked recessive pattern, meaning it is passed from a mother to her children, though it can also arise from a de novo (spontaneous) mutation in the affected individual.

Is Androgen Insensitivity Syndrome hereditary?

Yes, Androgen Insensitivity Syndrome is a hereditary condition, though the term "hereditary" refers to the passing of the mutation through families, while "genetic" refers to the fact that it originates from a change in the DNA sequence. Because the AR gene is located on the X chromosome, the condition follows an X-linked recessive inheritance pattern. This means that individuals assigned male at birth who inherit the mutation will express the condition, while individuals assigned female at birth who carry one copy of the mutation are typically asymptomatic carriers.

How does the inheritance pattern work?

Understanding the transmission of Androgen Insensitivity Syndrome is essential for family planning. Because the AR gene is X-linked, the following risks apply:

• If a biological mother is a carrier, there is a 50% chance for each pregnancy to inherit the AR gene mutation.


• Approximately 30% of cases of Androgen Insensitivity Syndrome arise from de novo mutations, meaning the child is the first in the family to carry the genetic change, and neither parent is a carrier.

Is genetic testing recommended?

Molecular genetic testing is the gold standard for confirming a diagnosis of Androgen Insensitivity Syndrome. Testing is recommended for individuals presenting with clinical symptoms, such as differences in sexual development, or for relatives of an affected person to determine their carrier status. Genetic counseling is highly recommended to help families navigate these results, understand the implications for future pregnancies, and discuss options like preimplantation genetic testing (PGT) during IVF.

Next steps

• Consult with a clinical geneticist to discuss Androgen Insensitivity Syndrome testing options.


• Connect with the Androgen Insensitivity Syndrome community on DiseaseMaps.org to share experiences with others.


• Request a referral to a genetic counselor to map out family inheritance risks.

Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Androgen Insensitivity Syndrome


• OMIM (Online Mendelian Inheritance in Man): Androgen Receptor Gene (AR)


• Orphanet: Androgen Insensitivity Syndrome


• The Androgen Insensitivity Syndrome Support Group (AISSGA)