Diagnosis

About a month ago I was tentatively diagnosed with non-classical congenital adrenal hyperplasia, a very common autosomal recessive disorder that is due to P450c21 (21-hydroxylase deficiency), the result of mutations in the CYP21A2 gene, located at chromosome 6p21. 


This disorder wasn't identified until the late 1950's, and is still being underdiagnosed, and more frequently is diagnosed in women than in men, due to the symptoms primarily being of excess androgens.
My symptoms include:
Hirsuitism (excess facial hair)
Thinning hair
Irregular but active periods
Weight gain (partially the result of poor exercise and eating habits, and partially the result of poor metabolism from misfiring adrenal glands)
Moderate facial acne from mid high school until now (early 20's)
And a previous diagnosis by my family physician with PCOS (Polycystic Ovarian Syndrome, a common prior diagnosis for patients with Late Onset or Non-Classical Congenital Adrenal Hyperplasia).
What made my endocrinologist tentatively diagnose me with NCAH was some basic blood work looking at my androgens, or male hormones. She was looking to confirm PCOS, and instead realized that not just my testosterone was high, but all my male hormones were high.
So she sent me back for more blood work, done the second morning of my cycle, when she knew what my androgen levels should be, and for her that demonstrated with about 95% accuracy that I indeed had NCAH. But she said that there was a very small chance that I had ovulated just before this round of bloodwork had been done, and since there was no way to rule that out for that particular blood work, she sent me for another test.
This was called a Cort Stimulation Test, and it was done in the local hospital where I work in the cancer infusion clinic. First they inserted an IV and drew blood and then inserted a drug called Cosyntropin. It gave me a feeling of nausea, but nothing else, and then they redrew blood at 30 minutes and again at 60 minutes. Other than having to redo this test a few days later because the original draw was performed in such as a way as to cause blood to hemolyse before the lab could perform the tests, this test was fine, just time consuming. 
A little over a week later, my endocrinologist called me. The cort stimulation test had confirmed her diagnosis, I did indeed appear to have NCAH, and she was sending me a prescription for Dexamethasone, and I would need to make an appointment to see her in six weeks. I didn't know how the medication would affect me, if at all, but I hoped I would see some improvements.