Hi Shaun,

 

I think the stages that you describe can be attributed to human development, in general, not just CAH.  With both CAHyperplasia and CAHypoplasia, the problem is that the timing of normal development can get all screwed up.  With a Hyperplasia kid, the tendency would be for growth and development to happen ahead of schedule, because of the excess production of male sex hormones.  With a Hypoplasia child, like Liam, you have somewhat the opposite problem, since he produces no male sex hormones, in his adrenal glands, at all.  In that way, I would assume, as you said, that he would need testosterone injections, or some kind of androgen replacement therapy, as he gets older, in order to undergo normal sexual development and growth.   

 

You're right that doctors should know all of this already, if they have gone through medical school training---after all, it is just part of understanding basic human physiology.   Why then does there seem to be such a gap when it comes to doctors who know how to effectively treat CAH?  In my opinion, it is because there is a big difference between understanding information, and understanding how to apply what you know---no matter what field you are in.  Medicine, apparently, is no different.

 

Sorry to wax philosophic here, but I've been puzzling over this issue for awhile, wondering why some doctors who are actually fairly well known for their work in the field of CAH can be sometimes seem almost incompetent, when it comes to treating patients.  We experienced this ourselves, with one of the best known names in the field.  I've decided that it all comes down to the difference between those who are good at inductive thinking (going from the specific to the general) vs. those who are good at deductive thinking (going from the general to the specific.)

 

Treating patients requires someone with good analytical skills, i. e. someone who is a deductive thinker.  With a condition like CAH, I think it is even more important because the conditions and variables are constantly changing.  In that way, when we pick a doctor, sometimes only because we've heard their name, I think we also need to understand just what it is they are known for, in the field.  They may be very good at understanding certain aspects of the condition--and spewing it back to you---but that may not necessarily be the same thing as knowing how to apply what they know, in order to solve a problem in a clinic setting.