this is very interesting. I am wondering if they said if this defect is an isolated incident in your sons case. it sounds as if you are saying the geneticist said that CAH in any person could be from a defective gene and not necessarily from recessive genes. if this slight possiblity exists then i'm curious to be tested to see if my husband and i are carriers of CAH or not. i would like to have another child but the stress and the worry from having my daughter who has CAH makes me feel that one is enough for us. now, whether or not our insurance would cover the testing is another story! thanks for keeping us informed.