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Diseases

Genetic and Rare Diseases Information Center (GARD)

21-hydroxylase deficiency


Other Names for this Disease
  • Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
  • CYP21 deficiency
  • 21 hydroxylase deficiency
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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 is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
  • An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics.
  • 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)
Other Names for this Disease
  • Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
  • CYP21 deficiency
  • 21 hydroxylase deficiency
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.