Here are a couple of the articles I mentioned in my note from the other day. (The issue was whether genetic testing will shed light on how a CAH patient is treated.) The first is by Dr. Phyllis Speiser who, in part, says:
"Molecular diagnosis does not directly add to patient well-being, and is mainly of research interest, or of use in prenatal diagnosis."
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The second is a German study that compares the genotype and phenotype of a large number (155) of CAH patients. In a nutshell, what it found was that while there is generally good correlation between the two---especially in those with either the most severe or the mildest mutations---there is a much higher degree of variability in presentation when you are talking about those people in the middle. In other words, it is not ALWAYS possible to predict who is going to be a salt waster and who is not, based soley on what the genes say.
There were also three patients in whom mutations were unable to be detected---in either one or both of the CAH genes---even though the patients clearly had CAH, as per the results of an ACTH stimulation test. And five new mutations that had previously not been identified.
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In my opinion, because scientists have not yet discovered all there is to know about the inheritance of CAH, treatment should be based on how you present---i.e. your phenotype---rather than what your genes say. Happily, in most cases, the two will agree, but in situations where they don’t, I feel that it only makes sense to treat according to what is known---i.e. a person’s physical symptoms---rather than treat according to what is unknown---why the person has the symptoms ( if they happen to disagree somewhat with the genetics report. )