How are neonates screened for congenital adrenal hyperplasia (CAH)?

Updated: Oct 06, 2020
  • Author: Thomas A Wilson, MD; Chief Editor: Sasigarn A Bowden, MD  more...
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Methods have been developed to screen neonates for congenital virilizing adrenal hyperplasia secondary to 21-hydroxylase deficiency and 11-hydroxylase deficiency by measuring 17-hydroxyprogesterone and 11-deoxycortisol, respectively, from heel blood samples collected on filter paper. [33, 34]

  • This approach has permitted early identification of newborns with this disorder. This strategy has prevented salt-wasting crises in males whose condition is unrecognized at birth and resulted in the identification of both completely virilized females who may be mistaken for males with cryptorchidism and patients of both sexes with simple virilizing adrenal hyperplasia, enabling early treatment before undue advancement in skeletal maturation.

  • Whether these benefits are deemed to be worth the economic cost of screening to justify more global screening remains to be determined. [33]

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