Hi Lisa,

Thanks for your kind words. To try to answer your questions:

Having pointed you to this reference that gives "1200 ng/dl" as a cutoff between affected/unaffected individuals, I’d also like to add that I don’t believe this number should be viewed as an absolute. In other words, I don’t think it’s a situation where someone has determined that 1200 ng/dl is some sort of magic number...that anything over 1200 (e.g. 1201) means that you definitely have CAH, while anything under 1200 (e.g.1199) means that you don’t. I’m sure there are probably other references that will give a slightly higher, or slightly lower, cutoff.

But.....to get back to your question about whether results might not be slightly different if the test was done at a different time, I think the answer is "yes." At the same time, I’m not sure that it really matters that much. A good doctor will look at ALL the adrenal hormone levels gotten from the stim test (cortisol, androgens, etc.) not just the 17-ohp, as well as the clinical history of the patient, before making a diagnosis. If they have properly taken everything into consideration, then there really shouldn’t be much reason to worry about an incorrect, or missed diagnosis.

In your family’s case, you also have the added information of knowing that your son has CAH, and the severity of CAH that he has. Though I know he is officially classified as a non-salt waster, you have posted about high renin levels and 17-ohp values upwards of 8000 ng/dl, when he is out of control. Since children in the same family (with the same two parents) will generally be of the same genotype, you can assume that your daughters will present similarly to him, if they were also to have CAH. Yet, neither of your daughters’ stimulated 17-ohp numbers even come anywhere close to your son’s. I think this gives even more credence to the notion that they do not have CAH.

I assume when you say your daughters’s stim tests were "negative," that this is what the doctors have told you. In your situation, I would believe them. More importantly, I think most good pediatric endos would also agree with their assessment.

As for whether these results might indicate that they are carriers...in my opinion, yeah...probably. Nomograms are useful predictive tools in that they show patterns in the population. And based on where your daughters fall on these charts, it does look like they fit the hormonal profile of CAH carriers. To be absolutely sure, however, you would need to confirm with genetic tests, though I’m not sure there is really any need to hurry to do that, at this stage in their lives.

Hope this all makes sense and that I haven’t confused things further! Best wishes.