CYP21A or CY21B denotes the gene location of the steroid 21-hydroxylase. To tell the truth, it looks as if they were trying to come up with an alternate way to locate changes in the gene that would identfy those people that had LOCAH, or perhaps just a carrier. Today, to identfy those with LOCAH, they could just run a DNA sequencing, 17-hydroxyprogesterone RIA, or a stim test. Since all those things are readily available today, perhaps the line of reseach the article is talking about was never expanded upon.

Everyone’s in a agreement that there are a variety of mutations that cause CAH. People with LOCAH usually have a mutation of the CYP21A gene, it’s just not as severe a mutation that you would see in a child with SWCAH. I read somewhere (and please correct me if I’m wrong) that with CAH the phenotype (SWCAH, SVCAH, or LOCAH) of the person corresponds to the less severe mutation of CYP21A.

So for example, if you had two genes, one normal and the other that would cause SWCAH- you would have normal 21 hydroxylase production.

If you had 2 genes, one of which would cause SVCAH and the other SWCAH, the person would have SVCAH.

If you have 2 genes, one of which would cause LOCAH and the other SWCAH, the person would have LOCAH.

This isnt always so, but it seems to apply in most cases.

If you are having symptoms associated LOCAH, I’d certainly have the appropriate tests run. At the very least, it probably wouldnt hurt to talk to an adult endocrinologist.

Hope this made sense- it’s sometimes hard to explain genetic stuff without drawing huge elaborate diagrams. If you want me to see if there are any articles related to the one you posted above, let me know- I have internet access to a university science library.

Liz