Our son had no overt signs of illness at an age of 1 month.  However, his blood sodium level was 120 which was way too low so they knew something was wrong.  The ACTH stim test came back negative of CAH and that’s how we wound up with a diagnosis of PHA.  We just give him extra salt and no medications.

If you see signs of Cushing’s syndrome and your doctor is ignoring it, then by all means seek a second opinion.  One of the things that I’ve learned the hard way is that these doctors don’t walk on water.  They have so many patients and such limited time that it is quite easy for a patient to fall through the cracks so to speak.  I have found that through diligent reading I probably know more about my child’s disease than my doctor’s do.  That’s pretty scary.