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re: re: ACTH test results- is it LOCAH? the doctor is not sure.... Sep. 17th, 2007 7:18am
Megan, thanks for your reply.
The cortisol level was a baseline. I'm going to see my endo this week and I would like to ask him about additional blood tests. You wrote that there could be some other enzymes' deficiencies in CAH. I didn't have them tested. Could you write what other enzymes should be tested for other variants of CAH? Kat mensions 17 hydroxyPREGNENOLONE. If this is the case, is the "syndrome" still called "late onset CAH"?
I also have a question concerning genetic tests. Do you know what gene and its mutations should one be tested for to confirm or exclude LOCAH?