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Diseases

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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Tests & Diagnosis


Newline Maker

Is genetic testing for 21-hydroxylase-deficient congenital adrenal hyperplasia available?

Yes. Genetic testing of 21-hydroxylase-deficient congenital adrenal hyperplasia is available. In most people with this condition, the genetic test result can be used to predict disease severity.[1] Click here to view a list of laboratories offering CYP21A2 testing.
Last updated: 7/25/2013

References
  1. New MI, Nimkarn SJ. 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia . GeneReviews. 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cah. Accessed 4/4/2008.


Newborn Screening

  • An ACTion (ACT) sheet for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. ACT sheets are general guidelines that describe the short-term actions a health professional should follow in talking with the family and deciding the appropriate steps in the follow-up of an infant who has screened positive on a newborn screening test. Click on the link above to view the ACT sheet.
  • An Algorithm for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. Algorithms are general guidelines for healthcare providers outlining steps involved in determining the diagnosis of an infant who has screened positive on a newborn screening test. Click on the link above to view the Algorithm.
  • The Newborn Screening Coding and Terminology Guide created by the National Library of Medicine (NLM) at the National Institutes of Health (NIH) promotes and facilitates the use of electronic health data standards in recording and transmitting newborn screening test results. The Web site includes standard codes and terminology for newborn tests and conditions for which they screen, and links to related sites. Click on the links below to view details for the three types of congenital adrenal hyperplasia due to 21-hydroxylase.
    Congenital adrenal hyperplasia (non-classical) 
    Congenital adrenal hyperplasia (salt-wasting)
    Congenital adrenal hyperplasia (simple virilizing)