Hi Tom,

Was your son born premature? If not, then...unfortunately...I don’t think his numbers are really all that low (as evidenced by the fact that he has scored above the cutoff for CAH both times.) I believe that newborn screening numbers are usually reported in units "ng/ml" (nanograms per milliliter), while blood tests used to monitor patients after diagnosis are usually reported in units "ng/dl" (nanograms per deciliter). The two are off by a factor of 100, so you have to be careful that you are comparing apples to apples.

E.g. "Normal" for a healthy newborn (NOT born prematurely) is around 200 ng/dl. Assuming that your son’s numbers are, in fact, in ng/ml, this would mean that his first screen came back at the equiv of 6490 ng/dl, and his second screen at the equiv. of 2920 ng/dl...both quite high. So, to start, I woud certainly ask the doctors to verify the units of measure on his newborn screening report.

With two screens above the cutoff, according to the State lab, I think the doctor should also be running a full adrenal profile, as well as electrolytes and plasma renin activity, to get a more complete picture of what is going on. An adrenal profile would generally include testing for the hormones 17-hydroxyprogesterone, androstenedione, and testosterone; while electrolytes measured usually include sodium, potassium, and bicarbonate.

If the labwork shows that your child likely has CAH, but he doesn’t seem to be having any symptoms of going into a crisis, it could be that he has a less severe enzyme defect, i.e. he might be more of a simple-virilizer than a severe salt-waster.

Good luck, and let us know how you make out.