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Diseases

Genetic and Rare Diseases Information Center (GARD)

Congenital adrenal hyperplasia


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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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
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  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital adrenal hyperplasia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CAH
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