It’s interesting re. this discussion of classifications. There are several paediatric endocrinologists across the globe who seem to rigidly set ambiguous genitalia, as one of their essential criteria, for  classic CAH in girls. Does this still stand up with the advent of pre-natal Dexamethasone  treatment, where there is no apparent ambiguity?

 

There are others though, whom are saying that the conventional classifications surrounding CAH are not helpful as there is a spectrum of presentations from birth to middle age and making arbitrary cut off points are not helpful. This results in everyone having a different label, and as we know that can become very confusing.

 

In having this discussion, a doctor once said to me, that the way people present with CAH and the time of presentation owes as much to clinical awareness and other, as yet unknown, genetic factors, as to the actual enzyme deficiency.

 

It’s a fascinating subject and one I would like to engage in more fully at some time.

 

Megan