My son was diagnosed through the newborn screen but it took almost 40 days to confirm diagnosis.  During this time he was on no medication and was not even close to a crisis.  When they did his acth stimulation test his baseline and 60 minute results indicated he is not a salt-waster.  We also did DNA testing which showed he has one salt wasting gene and one non-salt wasting gene (the non-salt wasting comes from me the salt-wasting comes from my husband).  His sodium and postassium are on the borderline side of the normal range and so is his renin.  We were just at the endo. yesterday and decided since he is on such a high dose of cortisol for only 5 months old that we are going to add a low dose of florinef, decrease his cortef and hopefully this will help.  His endo. took one look at him and said he is cushingoid.  His cheeks are huge and he did not even  grow a hair in the last 6 weeks.  Hopefully we will be able to get his 17ohp under control with this new regime and see some growth.

When my son’s first newborn screen came back abnormal the pediatrician said that he has had others come back abnormal and that the 17ohp has decreased to the normal range over a couple of month period.  We were hoping this would be the case for our son but it hasn’t.  I pray that this is the case for your son as it certainly sounds like it is.   I wish you all the best.

Lisa