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I'm sorry you are having trouble finding answers. From what you've said, it's a bit difficult to say if your son may have CAH. Generally, boys with the more common forms of CAH--21-hydroxylase and 11-beta hydroxylase deficiencies---are not born with underdeveloped genitalia, as they OVER- produce male sex hormones. However, there ARE rare types of CAH that result in an UNDER-production of male sex hormones, which could result in underdeveloped male genitals. Can you clarify what the doctors mean by a "variant" in his adrenal results, to do with cortisone?
