Hi Macarena,

I do remember you saying (in a different thread) that Chresten just had an ACTH stimulation test done.  But, I believe you also said that he was still being treated with HC at the time (your post to Risty and Megan on 9/5/03).  It is my understanding that you are supposed to be OFF treatment for the ACTH to be accurate...how long, I am not sure.  Have you asked the people at Cornell about this? 

The problem is that an ACTH is probably the best test to determine the type of CAH (IF Christen does have some sort of CAH.)  There are more than 13 major hormones produced by the adrenal cortex.  By looking at which ones rise a lot, and which ones don’t rise so much, doctors can generally distinguish between the different types of CAH (21-oh, 11-oh, 3-beta, etc.)

I asked about androgens (DHEA, androstenedione, and testosterone) because they would be important in determining if Chresten migh have one of the rarer types of CAH, such as 3-beta deficiency.  In the most common forms of CAH---21-oh and 11-oh---all the androgens are high, while with 3-beta, DHEA is high, but androstenedione and testosterone are both low. 

Androgens are also important in distinguishing between CAH hypoplasia or hyperplasia.  With Hypoplasia, all the androgens would also be low.  

Though I am not at all certain of the validity of this ACTH test, I do note that the androstenedione number barely rose after stimulation.  I would question whether that might indicate some sort of block in the androgen pathway, again possibly pointing to something like 3-beta CAH.  Did they give you the DHEA number from this test?  (By the way, do you know what units of measure these numbers are in?)

It’s also interesting that Chresten was missed on the newborn screen. Newborn screens are based on elevated 17-ohp levels, which are generally highest in those with 21-oh deficiency.  However, if you have a different type of CAH, you can be a severe salt-waster, yet not have high enough 17-ohp levels to make the cutoff.  Again, I wonder if that might be what happened in Chresten’s case.

I can understand why the doctors do not think Chresten has 21-oh deficiency, but it perplexes me that they are so quick to discard the idea of another type of CAH. In my opinion, it doesn’t sound like they have looked thoroughly enough to make that sort of definite conclusion.  You said it was based on no clinical symptoms.  By that, I assume you mean that Chresten does not have genital abnormalities (boys with 3-beta can sometimes present with hypospadius or undervirilized genitalia.) That is good, but if that is the case, making a conclusion based on visual examination doesn’t sound like a very scientific way to do things....at least to me.  Salt-wasting is also considered a clinical symptom, and Chresten certainly has evidence of that. 

I am also perplexed that they are so sure he doesn’t have another type of CAH, just because they sequenced the entire 21-oh gene.  That only tells them that he doesn’t have 21-oh CAH...it really doesnt’ tell them anything about another type of CAH.  

Please dont’ misunderstand...I have no idea whether Chresten really does or doesn’t have ANY type of CAH.  There is certainly lots of reason to suspect that he MIGHT and, in my opinion, they have not exhausted all the possibilites to prove that he doesn’t.  

I am sure you are tired of running around to different doctors, but it may be worth your while to get yet another opinion on these ACTH results, and to see if another ACTH under different circumstances would be worthwhile.  Dr. Sonya Pang, at the U. of Illinois is, I believe, considered to be the premier authority on 3-beta deficiency.  Maybe it would be worthwhile to give her a try.