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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Congenital adrenal hyperplasia


Tests & Diagnosis

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Is genetic testing avaliable for congenital adrenal hyperplasia?

Yes, genetic testing is available for many of the genes known to cause congenital adrenal hyperplasia (CAH).[1] Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are known.

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 12/27/2014

How is congenital adrenal hyperplasia diagnosed?

Shortly after birth, all newborns in the United States are screened for a variety of conditions, including 21-hydroxylase deficiency. This is the most common cause of congenital adrenal hyperplasia (CAH) and accounts for 95% of classic CAH cases. Nonclassic CAH is not detected through newborn screening and is often not suspected until signs and symptoms of the condition begin to appear later in childhood or early adulthood. In these cases, a diagnosis of CAH is usually based on physical examination; blood and urine tests that measure hormone levels; and/or genetic testing. An X-ray may also be helpful in confirming the diagnosis in children since CAH can cause bones to grow and develop more quickly than usual (advanced bone age) .[2][3][4]
Last updated: 12/27/2014

References
  1. Congenital Adrenal Hyperplasia. Genetic Testing Registry. http://www.ncbi.nlm.nih.gov/gtr/conditions/C0001627/. Accessed 12/27/2014.
  2. Congenital Adrenal Hyperplasia. NORD. February 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/97/viewAbstract.
  3. Congenital Adrenal Hyperplasia. Eunice Kennedy Shriver National Institute of Child Health and Human Development. July 2013; http://www.nichd.nih.gov/health/topics/cah/Pages/default.aspx.
  4. Thomas A Wilson, MD. Congenital Adrenal Hyperplasia. Medscape Reference. April 2014; http://emedicine.medscape.com/article/919218-overview.


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.
  • Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
  • 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 to below view details for this condition.
    Congenital adrenal hyperplasia (due to 11-beta-hydroxylase deficiency)
    Congenital adrenal hyperplasia (non-classical)
    Congenital adrenal hyperplasia (salt-wasting)
    Congenital adrenal hyperplasia (simple virilizing)
  • National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
Other Names for this Disease
  • CAH
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