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
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Tests & Diagnosis
On this page
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. Click here to view a list of laboratories offering CYP21A2 testing.
Last updated: 7/25/2013
- 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.
- 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)