Hi Carol,

Thanks for your message. Chresten was initially diagnosed with CAH after a severe episode of vomiting and dehydration at one month. His sodium was at 109 and potassium at 7, acth and 17-ohp were also very high. Even though the newborn screening showed negative results for the 21-hydroxilase defficiency (and also the genetic test), he was treated in that direction and he has been always fine. All the doctors I have been with, including Dr. New, discard other forms of CAH due to the clinical conditions of Chresten and despite no genetic evidence.

They don’t test regularly androgens here in Spain. The only data I have is from the ACTH stimulation test done at Cornell, where his androsteredione was 11 (baseline) and 12 stimulated. In this test, cortisol moved from 1.4 to 19.1 and 17-ohp from 14 to 23, so it doesn’t seem that bad, but I don’t know.....

Thanks again.