Dear CKL,

You are welcome and, again, I am sorry it took me so long to reply.

Re. your question about CAHypoplasia vs. CAHyperplasia:

In my opinion, there has been no demonstrated reason to doubt your son’s diagnosis of CAHyperplasia. If I rememember correctly, you had asked about a possible mistaken diagnosis a while back. At that time, you had asked why your son’s cortisol levels were so HIGH, after birth. But, you had also posted his other lab results (prior to any medication being given), which (if I remember correctly) included acth, 17-ohp, dhea, and a number of other hormones which were also quite high. You also mentioned the unfortunate passing in infancy of an earlier child, a girl with virilized genitalia.

As I said before, I believe your son’s original lab results support a Hyperplasia diagnois, even with the unexpectedly high cortisol at birth. In fact, I think the case for Hyperplasia is really pretty strong.

Similarly, now, there is really nothing that unusual about your son’s results. They are low simply because he is very well suppressed on the current dose of medication. Because he does not produce cortisol naturally, and what you are seeing are the traces of drug left in his system, the amount of cortisol measured is really sort of irrelevant.

I am glad that you now have two good doctors working with you. Yes, I do realize that they don’t agree with each other, in this case, but that is not unexpected in medicine. Even though I tend to side with your new peds. endo’s opinion in this case, I have always thought your reg. ped sounded like a very good doctor, and I continue to think so, from what you have said. You are lucky! It takes time to get comfortable with CAH and I hope working with two good physicians will help to put your mind at ease, over time.

Best,
Carol