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I've recently discovered that while my 25-Hydroxy-D is normal (29.6 ng/mL), my calcitriol 1,25-D is extremely high (140 pg/mL). I am not hypercalcaemic, and my parathyroid levels are normal. I've seen 2 endocrinologists, and both are puzzled by what could be causing this. Interestingly enough, my 9 year old daughter seems to have the same problem. Her 25-H-D is normal, and her 1,25 D is 130 pg/mL. We're having her dad tested to see if this is genetic or environmental. Is there any disorder or possible answer to why this could be happening? The endocrinologist had spoken of a genetic enzyme mutation that may cause it, but wasn't sure of the specifics. I'd love to get some insight on how this could be happening.

Asked by  britsherman88167600 on February 12, 2015

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