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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cortisol biosynthesis. It is caused by mutations in the human 21-hydroxylase gene (CYP21A2). Symptoms of 21-hydroxylase deficiency vary, but can involve salt-wasting crises in infants; ambiguous genitalia in female infants; excessive hair, deep voice, abnormal periods, no periods, and fertility problems in older girls and women; early development of masculine features in boys; and shorter than average adult height, acne, and blood pressure problems.21-hydroxylase-deficiency is a genetic disorder of
Last updated: 2/22/2010
- Stewart PM. The adrenal cortex. In: Kronenberg HM, Melmed S, Polonsky KS, Larsen PR, eds. Kronenberg: Williams Textbook of Endocrinology. 11th ed. Philadelphia, PA: Saunders; 2008..
- Congenital Adrenal Hyperplasia: What It Is and How It's Treated. American Academy of Family Physicians. 2006; http://familydoctor.org/familydoctor/en/diseases-conditions/congenital-adrenal-hyperplasia/treatment.html. Accessed 4/4/2008.
- The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) provides information related to the health of children, adults, and families. Click on the link to view information on this topic.
- The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
- Genetics Home Reference (GHR) contains information on 21-hydroxylase deficiency. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss 21-hydroxylase deficiency. Click on the link to view a sample search on this topic.