Hi Risty,

That is a rare case. I would say though that you should find an endo, an expert or not, that you are comfortable with. Regardless of his genetics, he will be treated based on his clinical history. I don’t think too many doctors, even Dr. New, would treat a child based on only what the genetics show because CAH is such a spectrum. With your son’s case, since it is rare, I would say that it is even more important to go with how your son presents with his CAH.

Hope you find a good doc.

Happy Holidays,

Sandra