What is the role of genetic testing in the diagnosis of congenital adrenal hyperplasia (CAH)?

Updated: Oct 06, 2020
  • Author: Thomas A Wilson, MD; Chief Editor: Sasigarn A Bowden, MD  more...
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  • A karyotype is essential in an infant with ambiguous genitalia, to establish the chromosomal sex

  • Genetic testing is essential for genetic counseling and prenatal diagnosis of adrenal hyperplasia

  • Newborn screening programs for 21-hydroxylase deficiency may be lifesaving in an affected male infant who would otherwise be undetected until presentation with a salt-wasting crisis [7]

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