Hi Macarena,

I am sorry for your disappointment and frustration.  My son was briefly a patient at Cornell.  I know how you feel.     

It is a shame that it has taken so long to figure out a diagnosis for Chresten.  As the doctors seem to acknowledge, he clearly appears to have both an aldosterone deficiency and a cortisol deficiency.  Generally that would mean some type of adrenal hyperplasia or hypoplasia. 

If you have hypoplasia, ALL of the adrenal hormones will be deficient.  But, if you have hyperplasia, then only SOME of them will be deficient, while others will be elevated.  In my opinion, based on this simple distinction, it should not be that difficult for the doctors to, at least, figure out which one of the two you are dealing with (hypo- or hyper- plasia). 

Addison’s is similar to cahypoplasia, but Addison’s is usually acquired, rather than inborn.  To me, the fact that Chresten presented in infancy suggests that what he has is congenital.

As I’m sure you know, there are more than 6 types of CAHyperplasia.  The most common is 21-oh deficiency, followed by 11-oh deficiency, followed by 3-beta deficiency.  Salt-wasting is possible with all these different types of CAH, though it is less likely with 11-oh deficiency.   If the doctors do not think Chresten has another type of CAH, they should be clearly able to tell you why, based on his lab reports. 

There are also at least three different types of CAHypoplasia.  I don’t know too much about them, but one is caused by problems with DAX, as you said.  The others are caused by problems with proteins called "STAR" and "SFI."  Since these proteins have been identified, I am sure there must be a way to test for them.  Whether the gene has been located or if genetic testing is available should not matter.   

I’m sure it is probably more difficult to get a clear picture of what the adrenal hormones look like, once a child is being treated.  However, I am sure it can be done, but you need to first find a doctor who is willing to be analytical, systematic, and organized with his/her approach.  I wish I could tell you for sure that that is what you will find with Dr. Pang, but I don’t have any experience with her personally.  I only know that she is highly regarded and appears to be the authority on 3-beta deficiency.  (On the other hand, maybe it’s actually better to find a good endo who is not so focussed on a particular type of CAH.  Perhaps such a person may be better able to look at the big picture.  Just thinking out loud....) 

At any rate, please us know when you hear about next steps.  Again, I am so sorry you have to go through this.