This is a letter from Alaina's endocrinologist (I bolded the best parts):
Hi Carolyn,
Alaina’s results were normal:
Her baseline 17-OHP was 84 ng/dL. 1 hour after corticotropin stimulation it was 117 ng/dL. This is normal, with the range quoted in the paper for a carrier of the mutation (ie. one normal gene, 1 abnormal gene) being 300-1499 and normal being less than 300.
Also, her cortisol response was very robust, and her renin level was normal (the best marker of salt wasting).
All this, plus her normal female genitalia (ie. no evidence of excess male hormone exposure in-utero), means that she does not have congenital adrenal hyperplasia.
The result on the newborn screening test was therefore likely to be a false positive. This happen frequently enough, because the test is designed not to miss anyone who actually has the disease.
I hope this all helps- if you guys, or your pediatrician, have any questions I’d be happy to help in any way I can.
Kind regards,
Dr Taplin
6 comments:
YAY! I was praying for you. Here's to a healthy baby! Now let's just hope Marinda has one too;)
That is SUPER news!
See, prayers are answered, and there are miracles all around!
Janet bought you a bunch of cooking stuff today that she will send with your Mom.
:)
that's great, carolyn! now you don't have to worry!
This is wonderful news. We are so thrilled that everything works out and that she is healthy. We are so grateful for prayers! We love yoU!
Yay! I'm so happy for you! I hope everything else is going well. Your babies are adorable.
I am so happy that all is well with your baby. And that was a pretty cute family photo. Aren't you blessed?
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