What test did they lose? Was it the ACTH stim test results? There are still other options to figure out what she has. My son is now 22 months. He was diangosed through newborn screening as having SWCAH. My son, like your daugther was very healthy. Gained weight, ate, slept fine. He was started on Cortef and Florinef at 30 days old. 

After reseraching and reading tons of stuff and asking parents on the message board how their child was diagnosed I started to suspect that my son was not a SW. They had already started him on florinef and cortef so another ACTH stim test was out of the question because that would mean taking him off of his meds and the doctors would not do that.

I decided to get a DNA test done which showed that his genotype(what his genes said) was that most likely of a Simple Virilizer not a SW. Of course they still had to find out if his phenotype(how he presented) and his genotype matched. We spent two weeks at Cornell where Dr. New cut my son’s Cortef literally in half because he was cushingoid (over medicated). She also stopped his florinef and we waited. Everything came back pointing to the fact that he was not a saltwaster. We left NY confident that he is not a SW.

He has since been through several childhood illnesses like fever and throwing up and has done great everytime. He has also had a one stressful boo boo and never had a problem. He is currently only on Cortef. The endo here in TX always feels that his renin is on the higher side of normal but the endos in NY feel that his renin is fine for a child with CAH. So far he is growing normally and to this day has yet to have a problem because of his CAH.  Now I can’t say that he will never have a problem but the past in his clinical care is a good representation, to me, of how he will do in the future. I always try to be vigilent and of course I carry the solu cortef with me for the just in case.

So, I would say to talk to your doctor and ask about getting a DNA test done. If you feel more comfortable, ask another doctor for a second opinon. It could very well be that your daughter is not a SW but  a SV.  SV and I believe even son NON Classics can have virilization. So, the virilization alone doesn’t mean she is a SW.  The extra florinef probably won’t hurt her too much right now. In fact some kids who are non SW use florinef. I would worry though that she may start to have problems with high blood pressure. It is very hard to get an accurate reading on the little ones and in my TX doc’s office they just put on his chart, unable to obtain. It bothers me but it would bother me more if he were on Florinef.

Good Luck,

Sandra