Hi Concerned Mom,

I am sorry to hear about your daughter’s problems. To try to answer your questions:

Yes, it is possible to get one positive and one negative result from newborn screening. A positive result for CAH is based on levels of a hormone called "17-hydroxyprogesterone" (17-ohp) which is produced in the adrenal glands. High levels of this hormone can indicate that you have CAH.

However, premature infants can have high levels of 17-OHP, even if they don’t have CAH. In addition, the "cutoffs" used to determine which babies might have CAH, and which babies don’t, are often quite variable. It is not an absolute number, but rather a number that can vary depending on the lab doing the test, the population being tested, and even the number of infants that are tested in a particular day.

As far as your daughter’s other symptoms: Pubic hair grows as a result of high levels of male hormones called androgens. In infants, there are a limited number of conditions that can result in a child producing high levels of androgens. CAH is one of them.

Another symptom of CAH is a child who is prone to infection and illness. Vomitting and diarrhea are also symptoms of a child who is adrenally insufficient.

I think your doctor’s advice to see a Pediatric Endocrinologist is a good one. It may not be CAH, but there are certainly lots of symptoms that ARE often assoicated with CAH that you want to rule out.

Good luck and let us know how what you find out. In the meantime, I hope your daughter is feeling better!