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Genetic and Rare Diseases Information Center (GARD)

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21-hydroxylase deficiency

Other Names for this Disease
  • 21 hydroxylase deficiency
  • Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
  • CYP21 deficiency
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Your Questions Answered

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  • My 1-month-old grandson was diagnosed with congenital adrenal hyperplasia, after an abnormal newborn screening result. We were told his condition is due to 21-hydroxylase deficiency and possibly also 17-hydroxyprogesterone. Do you have information on this condition that I could share with my family? Click here for answer