We just got the results of the DNA test done to our son and the rest of the family (my husband, myself and our two daughters). My son is a 5 months old boy diagnosed with SWCAH at 25 days of birth by my pediatrician. He was at the ICU for a month, due to dehydration, extremely low levels of sodium, hyperpigmentation, up to the sky ACTH and 17 OH, etc. Everything was indicating and adrenal insufficiency, very close to an adrenal crises. That was the initial diagnostic, and he was treated in that direction. Since then, he has been feeling fine, apart from some problems we have encountered not clearly related to his condition (he is at 6,5 mg of HC, 0,05 mg of fludrocortisone and 2 grs. salt supplement).

With the genetic results in hand, we went to see our endo, theoretically the one with the largest experience with CAH in Spain. He couldn’t understand anything. I have a gene mutation (Valina)associated to the 21 hydroxilase deficiency which is the one my son has inherited, and my husband has NO gene mutation, nor our two daughters... Apparently, Valina is a "soft" mutation, which is associated with non salt wasting forms of CAH because it has some enzymatic activity (25%). His firm opinion was that he could not say what my son has, but he could say what he doesn’t have (SWCAH 21-OH).

My ped is not in agreement. He is pushing to search for other mutations (the DNA analysis focussed on 88% of the most common mutations of the 21 OH) and sticks to his initial diagnostic. The endo is saying we should reduced the HC and fludrocortisone immediately. He says Chresten is showing Cushing sympthons. The truth is that the hormonal study done when he was put in the hospital was not straight forward (ACTH at 1796 pg/ml. 17-OH at 17.36 ng/ml but Cortisol at 23 mcg/dl, aldosterone at 77 pg/ml and 11 Desoxycortisol >25 ng/ml), but they interpreted the results in the light of a huge imbalance of ACTH and Cortisol levels.

I don’t know what to think... and what to do! Any help, input, suggestions, would be etremely appreciated!

Thanks to all.