Congenital Adrenal Hyperplasia

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re: re: ACTH test results- is it LOCAH? the doctor is not sure....
Sep. 15th, 2007   4:21pm

 

Kat and Megan-thank you very much for your interest in my case. I had received my lab results as I copied them here, without any ranges. 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? Kat mensions 17 hydroxyPREGNENOLONE. If this is the case, is the "syndrome" still called "late onset CAH"? I also give here my cortisol level: 18.36nug/dl. Is it a "healthy" level?  

I also have a question concerning genetic tests. Do you know what gene and its mutations should be tested to confirm or exclude LOCAH?

Thanks

Anna




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