It is interesting Susan because both of the two mutations that you have, can individually have variability in phenotypic expression.

The P30L although classified as nonclassic seems to be the most severe of the nonclassic mutations. For example I have a list here of people categorised as NCCAH and the one person in that list of 18 people with homozygous P30L (ie. two gene copies of P30L) had the highest baseline 17-ohp and stimulated results, as well as, the lowest cortisol response. (Pinto, Tardy et al 2003)

Another study I have here says that "it is interesting to note that all four females with the P30L mutation (100%) presented with clitoromegaly. In the large experience of our clinical centre, clitoromegaly has been detected in only about 7% of females with nonclassic 21-hydroxylase deficiency" and "the clinical phenotype in these five patients (with P30L) is intermediate in severity between the classic and nonclassic phenotypes". (Tusie-Luna, Speiser et al 1991)

There are quite a number of references to comments of these types in the literature, regarding P30L.

As for the Intron2 G mutation that is also an interesting one. Although it only has the tiniest amount of enzyme activity it can sometimes be enough to prevent salt wasting. So In2G people can be either SW or SV. One quote (and there are many) says: ..."although the intron 2 nt656G mutation is classified as ’severe’ it may be ’leaky’ and yield enough normally spliced mRNA to allow more than the expected null enzymatic deficiency in some patients". (Speiser 2001)

Basically CAH is on a sliding scale or spectrum of severity largely depending on what mutations are present....but to complicate it more some people with the exact same genotype can have widely varying presentations, hormone levels (basal and stimulated) and cortisol responses. So it is not all cut and dried.

Overall though Susan it is not at all surprising though that your phenotypic expression of LOCAH is more severe than someone with homozygous V281L (ie. V281L/V281L) as you have a classic and a P30L mutation.