Hi ckl,

There are several reasons why I think your son would probably be more likely to have "HYPERplasia" rather than "HYPOplasia."

1. I don’t believe 17-ohp is elevated, with Hypoplasia. Your son had a very high level of 17-ohp. This is a classic sign of Hyperplasia.
2. The lack of testosterone in Hypoplasia sometimes causes micropenis (small penis) in boys. Your son seemed to have the opposite "problem" which is also more indicative of Hyperplasia.
3. Virilization in your infant daughter also points to hyperplasia. I realize that she was never officially diagnosed with CAH, but there was a reason why her genitalia was enlarged and why she died in infancy. Yes, of course, coincidences do happen, but (in my opinion) the chances of two children in the same family presenting with such similar symptoms points to more than just coincidence.

Again, I don’t think a normal DHEA is enough to doubt the diagnosis. Think of it this way:

Imagine that the adrenal cortex is like a bunch of city streets. Now imagine that there is a traffic accident on one of the street corners. Where would you expect the biggest pile-up of cars? At the place where there is the accident, right? But, several blocks away from the accident, you may have a normal number of cars. That doesn’t mean the accident didn’t happen...it just means that you far enough away where traffic is not affected.

Basically, 17-ohp is close to the scene of the "accident" in the adrenal cortex. That’s why it gets piled up, when you can’t make cortisol. But, DHEA is far away. So,yes, you might expect that it would also be elevated, but just because it’s not is not reason enough to believe the other, more compelling, signs.

Also, AFTER treatment, DHEA is often found to be lower than normal in someone with CAH, as is the case with your son. Don’t know why that would be the case, but it is something that researchers have noted.

As for the cortisol: With Hypoplasia, cortisol levels are also supposed to be LOW (same as hyperplasia). I think Gwen was using her story to illustrate the fact that it didn’t make any sense either that her son had such a high cortisol number, when he was knocking on death’s door. As the doctors surmised, it may have been a situation where her son was desperately trying to produce as much cortisol as possible, in order to stay alive...but, I dont’ suppose there will ever be a way to prove it one way or the other.

Bottom line, in my opinion: Making a correct diagnosis involves using judgment and experience to determine what a set of numbers and symptoms might be telling you. It is not just the numbers alone...otherwise, we really wouldn’t need doctors to make diagnoses. We could just plug the numbers into a computer and see what it spits out.