As Alice said when she fell through the rabbit hole...

We just had our first checkup at the endocrinologist today.  Our Dr. McKay was replaced by Dr. Hwu (whose reputation preceeds her on this board!).  The results of Zachary’s ATCH stimulation test are back, and guess what?  There is NO elevated 17-hydroxyprogesterone anywhere to be found.

Conclusion: Our son does NOT have CAH in any of its forms.

This is a complete turn-around from what they were telling us in the hospital just one week ago.  Back then the doctors were certain that Zack had CAH and they just wanted to find out which kind he had.  They are still not sure if they had him off the hydrocortisone far enough in advance of the stimulation test.  They’ve taken him off hydrocortisone as of now, and replaced it with fludrocortisone (Florinef).  They want to wait six weeks to repeat the ATCH stimulation test to see if they get the same results.

But our son still does not have a diagnosis.  Since he was definitely losing salt some possibilities include:

1.) Congenital Hypoaldosteronism

2.) Congenital Pseudohypaldosteronism

Has anybody here heard of these diseases and if so could you give me any URLs concerning them (assuming they exist)?  Apparently these are both even rarer genetic diseases than CAH is.  We thought that we had won (= lost) the lottery but now we find out we may have really won (= lost) the lottery.

BTW, Dr. Karaviti (who is the CAH expert at the clinic) consulted on the issue and agrees that our son does NOT have CAH.

Any information would be much appreciated.