What is Late Onset Congenital Adrenal Hyperplasia

Late Onset Congenital Adrenal Hyperplasia is an autosomal recessive disorder, and it is one of the most common autosomal recessive disorders. There are 304 autosomal recessive disorders that have been identified, some of the other common ones being Cystic Fibrosis and Tay-Sachs. This is a Wikipedia link to the identified autosomal recessive disorders. 

What is an autosomal recessive disorder? An autosomal recessive disorder is a disorder of the autosomes, basically a disorder of any of any chromosomes which are not a sex chromosome. In the case of NCAH, the gene that is affected is called CYP21A2. The recessive part means that both autosomes of the affected pair must be affected for a person to actually have the disorder. There are three possible autosomal combinations. A person with two normal autosomes. This person is healthy and does not have or carry NCAH. A person with one normal autosome and one affected autosome. This person is healthy and does not have, but does carry, NCAH. A person with two affected autosomes. This person has NCAH. If two carriers were to get married, the statistical probabilities for their resulting offspring are shown in the image on the right. (Source) This shows all those combinations.

While NCAH is the one of the most common autosomal recessive disorders, it is still classified by the National Institutes of Health (NIH) as a rare disease, meaning that under 200,000 people in the United States have been diagnosed as having this disease at this time. However, I suspect that this disease is less rare than the NIH believes, and that this it is simply under-diagnosed. 

One thing I hope to do with this blog is raise awareness of this disorder and hopefully help people who have this disorder learn more about it, but even more importantly help people who have this disorder and have not been diagnosed realize their condition and become diagnosed and also help raise awareness. This is a very treatable disorder which, if left untreated, can really mess with a person's life on many levels, and I am so very grateful that I had an endocrinologist who was so alert to the discrepancies in my blood work and investigated further instead of accepting my previous diagnosis. 

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.