Hi Wendy.
This can be a very confusing time soon after learning of your child's diagnosis with CAH. I'm assuming that your daughter has the '21-hydroxylase enzyme deficiency' type of CAH, as almost 95% of CAH people have this type.
Firstly it helps to realise that CAH comes in a spectrum of severity regardless of which enzyme is deficient.
The spectrum ranges from diagnosis soon after birth in both boys and girls to diagnosis in the adult woman and anytime in between for both sexes.
The general classifications of severity are as follows:
Classical Salt-wasting CAH: Usually diagnosed soon after birth because of ambiguous genitalia or adrenal crisis. Usually 0-1% enzyme function remains; considered severe to complete loss of function.
Classical Simple Virilising (sometimes called non salt wasting): Diagnosed either soon after birth or symptoms may manifest in early childhood. Usually about 2-7% enzyme function, considered severe.
Non-Classical or late onset: Usually symptoms appear late childhood/early adolescence through to adulthood. Usually 15 -50% enzyme function, considered moderate to mild.
These levels of severity as outlined above are determined in the main by the type of CAH mutations the child/person has. There are about 70+ mutations which can cause CAH, so any combination of two of these mutations can cause CAH in it's various expressions.
I would definitely think that your daughter has Classical Simple Virilising CAH as she has very overt and quite severe symptoms. I doubt VERY much that if she had her mutations/dna tested that they would find non-classical mutations.
Also have they tested her plasma renin levels, indicating her ability/inability to retain salt?
