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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Congenital adrenal hyperplasia


Other Names for this Disease

  • CAH
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Overview

Congenital adrenal hyperplasia (CAH) refers to a group of genetic conditions that affect the adrenal glands. These glands sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Affected people lack an enzyme the adrenal glands need to make one or more of these hormones and often overproduce androgens (male hormones such as testosterone).[1] The signs and symptoms present in each person depend on many factors including the type of CAH, the age of diagnosis, and the sex of the affected person. For example, females with a severe form of the condition may have ambiguous genitalia at birth and if not properly diagnosed, develop dehydration, poor feeding, diarrhea, vomiting and other health problems soon after. People with milder forms may not be diagnosed with the condition until adolescence or adulthood when they experience early signs of puberty or fertility problems. Treatment for CAH varies but may include medication and/or surgery.[2][3]
Last updated: 12/26/2014

References

  1. Congenital adrenal hyperplasia. MedlinePlus. February 2014; http://www.nlm.nih.gov/medlineplus/ency/article/000411.htm.
  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.
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Other Names for this Disease
  • CAH
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.