Oops, I forgot to explain that phenotype is what the child presents with. The genotype is what the genes say the child should present with.   If a child has a true SW crisis and the genotype says that they are SV then you would assume that the genotype and phenotype don't match.

I read Carol's post above and I also wonder how your daughter was diagnosed? Where was your son born? Did they have newborn screening for CAH? Carol is right that SW and SV are lumped together. I believe that this is what happened to my son. I was told he was a SW from his ACTH test and his genes showed he would be a SV.  He never had a crisis and didn't start meds until 30 days. He never showed any of the signs SW's show such as  a hard time gaining weight, throwing up, etc.. This is why I believe that his phenotype and genotype match.  The reason that endo's lump the two forms of Classical CAH together is that they want to err on the side of caution. They want to treat the child as if they have the worst so that they prevent any problems. The problem with this is that as a parent you want a correct diagnosis and you want to treat them correctly. It took a big load off of my mind when I found out he was a SV not a SW. I think that if your kids didn't have a ACTH  test done, they should. This would be a more accurate way to test them.

It is hard to know everything about CAH. There is still  so much that is unknown about this disorder. I think that in the years to come we will find out so much more. Also realize that CAH is a tailor fit. No two kids will have the same experience with CAH.

Sandra