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re: -oops hit return too soon! continued from above Jan. 24th, 2007 10:38pm
To answer your last question first: 17 OH Preg is before 17 OH Prog in the cortisol pathway. There are different enzymes needed to convert the 2 different things, so if 17 OH Preg is high, it reflects a different enzyme deficiency than if 17 OH Prog is high. Both are forms of CAH, but the most common one is when 17 OH Prog is high (21 hydroxylase deficiency).
My daughter also tested in the carrier range, which according to Dr. New's work of a few years ago, runs from about 100 to 1100 ng/dL (stimulated 17 OH Prog). I don't know if this range has changed any. We would like to get genetic testing for my daughter, also, since she has many symptoms which she shouldn't have if she's just a carrier, although not as bad as you describe. Did your insurance pay for the genetic testing? I know of at one other person whose son was genetically tested as a carrier but had advanced bone growth, and she had a terrible time getting someone to treat him, but finally did.
