Hi Bebe,

Although it could be a possibility that your son has CAH, I’m not sure it would be likely that he would be a SW UNLESS you and your husband have other CAH genetic mutations that he could have inherited. I would get your son tested. Why not? I have 3 boys. My youngest has SV CAH.(non saltwasting, classical). He was diagnosed through newborn screening here in TX. My other two were born in CA which does not  have newborn screening for CAH. I had them both tested to make sure they didn’t have it too. They are 4 and 7yrs old.

It is a simple test really. It is called an ACTH Stimulation test. Basically they draw your son’s blood at 0 min and then give him a shot to stimulate his adrenals and at 60 minutes they do another blood draw so they can see at 60 minutes what the difference is between 0 and 60 min. They then use the results to diagnose.

Of course you can do genetic testing, which we did also, to confirm both your diagnosis and his carrier status. There are a few labs that do this. I did mine at Cornell Presybeterian in NY. You should contact a genetics couselor if you are interested in doing this type of testing.

Good luck,

Sandra