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Dr. Andrew Rynne
Dr. Andrew Rynne

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Exp 50 years

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How to confirm a child affected by adrenal hyperplasia congenital?

how to we confirm the child affected by adrenal hyperplasia congenital?

Tue, 4 Mar 2014
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There are various methods to confirm this disease. Basically it is a deficiency of a certain enzyme in the baby's adrenal gland. Most commonly 21 hydroxylase deficiency. Either you can look for 17 hydroxy progesterone levels in urine, if high indicates Adrenal hyperplasia due to 21 hydroxylase deficiency. Even enzyme assays can be done to find out the deficient enzymes causing this disease.
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