Androgen insensitivity syndrome primary prevention

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Primary Prevention

Genetic counselling information

When a woman is diagnosed with CAIS or PAIS, referral to a genetic counselor may be warranted to explain the implications of the X-linked recessive inheritance.

• The mother of the woman with AIS is likely to be an unaffected carrier of the gene on one of her X chromosomes.
• A mother who carries the defect will, on average, pass it to 50% of her children, whether XX or XY. Those who are XX will be similarly unaffected carriers who can pass it to succeeding generations. Those who are XY will have the condition but, being infertile, cannot pass it.
• If the family is large, other members can be found who have or carry AIS. Many women with AIS will be able to identify affected maternal relatives such as aunts or great aunts.
• Carrier detection by gene testing is now possible.

A small percentage of new cases of AIS are due to new, spontaneous mutations, and the above information about the family is not applicable. See the section above for more genetic details.