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Causes of Androgen insensitivity syndrome

Approximately a third of cases of AIS occur due to spontaneous mutation (change) in the egg. The other cases follow a line of inheritance through the mother. There is a defect in the androgen receptor gene on the X chromosome, the inheritance is X-linked recessive.

 Mothers who carry the gene have, in each pregnancy: 

•  a 25% chance of having a normal son (XY), 
•  a 25% chance of having a child with AIS (XY),
• a 25% chance of having a normal daughter (XX), 
•  a 25% chance of having a daughter who is a carrier of the gene (XX).

As explained above, the child with AIS will be a daughter in the case of CAIS, and may be a son or a daughter in the case of PAIS.

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