Lynn, I found a research paper from March of last year but its very technical and I'll need some time to understand it. I may learn enough from it to explain some things. In the mean time: No I don't think the test was faulty - just incomplete. No I don't think there is a whole new form of CAH just another gene or genes that can cause your son's form of CAH. No I don't think that this lack of understanding threatens the life or health of your son. Remember I was successfully treated for CAH before ANY of the genetics was understood. You could try having a face to face meeting with your geneticist. If you want, I'll try to think up some questions to ask based on what you have told me and what I read. By the way, am I right in assuming that your son's diagnosis is classic salt wasting CAH due to a 21-Hydroxylase deficiency? Please try not to worry. Joan