Hi Stephanie!
I am also in the same boat as you are. I have many of the same symptoms as you do. In addition, I have a family member who has SWCAH. My acth stim test also came back "mostly normal". Through some research and in corresponding with others on this board I have learned that there are 3 different types of adult onset CAH and the doctors typically only screen for 21 hydroxylase deficiency which is done by testing either serum levels or ACTH stimulated levels of 17 hydroxyprogesterone.
The second most common type is 11 deoxycortisol deficiency. They screen for this by testing 11 deoxycortisol (the best way is to do the ACTH stim test for this as well).
Thirdly, there is a form called 3 beta deficiency and this is tested through 17 hydroxypregnenelone levels. There is one research study that I am aware of that argues that this form is actually PCOS and not CAH but I have not read any other studies to confirm this, so I don't know much more about that.
I know it is really difficult, but maybe you could try to find a doctor who will agree to another ACTH stim test and have them specifically test the 11 deoxycortisol and 17 hydroxypregnenelone (maybe regular pregnenelone too). I think I have heard others suggest that they should do the androgens with that too but I'm not positive.
It must be frustrating for you, I know it is for me. Doctors just don't want to listen sometimes. I finally just found a doctor who seems like he will finally test my 11 deoxycortisol and pregnenelone levels after one year of searching for answers!
Best Wishes!
