Kim,

Often doctors use the term ’partial deficiency’ when referring to enzyme function and severity in CAH.......when really it should be partial efficiency of enzyme function. So I don’t like that term partial at all, as it is misleading.

Your recent tests may have come back normal BUT what tests did he do? I find most doctors (GP’s or PCP’s), do not have a clue which tests to order for CAH diagnosis or ’rediagnosis’. I hope I am wrong and that he did perform the correct tests -then that is good news for you.

My personal opinion is that any child who is showing signs at six years of age (as you state in your case), is usually severe enough to require long-term treatment, so long as the original diagnosis was correct. There are a couple of other conditions that can have some of the symptoms of CAH....so the diagnosis needs to be unequivocal.