Hi Susan,

The P30L mutation is associated with non-classic CAH, though some people can appear intermediate between non-classic and simple virilizing CAH. (This is not the same non-classic mutation that is common in Ashkenazi Jews. That one is called V281L.)

The In2G mutation is associated, I believe, with simple virilizing CAH.

Since the "better" gene is considered dominant, you would be expected to present with the characteristics of the P30L mutation, which is less severe than the In2G mutation, i.e. somewhere between non-classic and simple virilizing (which seems to be pretty close to real life, in your case).

Everyone---CAH or non-CAH---has a CYP21 gene. In those with CAH, the CYP21 gene is abnormal, thus they cannot properly produce the enzyme "21-hydroxylase." In those without CAH, the CYP21 gene is normal, thus they CAN produce 21-hydroxylase.

That you show abnormalities in your CYP21 gene confirms the fact that you have 21-hydroxylase deficiency. The two mutations that you mention are among the ten or so that are considered the most common in causing 21-hydroxylase deficiency.

"Heterozygous", in this case, just means that you have two DIFFERENT mutations. If you happened to have the same mutation on both genes (e.g. two P30L mutations, instead of one of each), then you would be "homozygous."

Hope this helps!

Best, Carol