JenniferNot long ago we decided to go get a second opinion for my son who was diagnosed with SWCAH. We weren’t questioning that he has CAH, but we were wanting to make sure that his meds were correct. This doctor seemed to be a little more informed about CAH than his original endo. She told us that based on the fact that he was not ill after birth and due to his genetic testing he does not have SWCAH but he has simple virilizing/locah. He has one mutation that is classical and one that is not. She also decided to keep him on his cortef because his 17OHP is a little high, but she did take him off of his low dose of florinef due to his renin and eloctrolytes being fine. I would like to know if anyone else out there has had this same thing happen to them (one dr. say classical and then realizing that was incorrect). Also, I am wondering if any future children could have SWCAH or would they all have either nothing or locah also?
Any help is greatly appreciated!
Jennifer