To Lisa: re prev. ? about ACTH Stim. test
May. 15th, 2004   10:50am

Hi Lisa,

A while ago you posted a question re.  ACTH stim. results and cutoff levels for carriers vs. affected individuals, etc. I didn’t know the answer to your specific question about cutoffs, but was going to tell you that---personally---I didn’t think you really had anything to worry about. However, it took too long to explain why, so I didn’t post, at the time....sorry!

Anyway....I was reading something this morning which happened to address your specific question, so thought you might be interested.

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http://edrv.endojournals.org/cgi/content/full/21/6/671

".......Alternatively, to effectively rule out P450C21 deficiency, an ACTH test should be performed in prepubertal children with morning (0800–1000 h) baseline 17-OHP levels above 100 ng/dl, which represent more than 4 SD above the mean according to published normative data (20), and in postpubertal patients with follicular unsuppressed (without prior dexamethasone administration) 17-OHP levels greater than 200 ng/dl (176). Stimulated 17-OHP responses greater than 1500 ng/dl require genetic confirmation only if genetic counseling is requested (170). Levels of 1,200 to 1,500 ng/dl should be considered a gray zone definitely requiring genetic confirmation (177). The molecular analysis of the gene encoding for cytochrome P450C21 (i.e., CYP21) in patients with purported late-onset adrenal hyperplasia due to this enzyme deficiency has shown that no subjects with post-ACTH serum 17-OHP levels below 1,200 ng/dl are homozygous or compound heterozygous for mutations in the CYP21 gene (178)......."

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Since both your daughters’ post-stim test 17-ohp results were under 1200 ng/dl, I think you can probably be fairly confident that they do not have CAH. Hope this helps to put your mind more at ease!

Carol M.
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