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Definition
By Mayo Clinic staff
Congenital adrenal hyperplasia (kun-JEN-i-tul uh-DRE-nul hi-pur-PLA-zhuh) is a collection of genetic conditions that limit your adrenal glands' ability to make certain vital hormones. In most cases of congenital adrenal hyperplasia, the adrenal glands don't produce enough cortisol. The production of two other classes of hormones also may be affected, including mineralocorticoids (for example, aldosterone) and androgens (for example, testosterone).
Congenital adrenal hyperplasia can cause problems with normal growth and development in children — including normal development of the genitals. It affects both males and females.
Although congenital adrenal hyperplasia can be life-threatening, most people with it can lead normal lives with proper treatment.
- Parks JS, et al. Congenital adrenal hyperplasia and related disorders. In: Kliegman RM. Nelson Textbook of Pediatrics, 18th ed. Philadelphia, Pa.: Saunders Elsevier; 2007. http://www.mdconsult.com/das/book/body/208746819-6/0/1608/0.html. Accessed Jan. 13, 2011.
- Stewart PM. The adrenal cortex. In: Kronenberg HM, et al. Williams Textbook of Endocrinology. 11th ed. Philadelphia, Pa.: Saunders Elsevier; 2008. http://www.mdconsult.com/das/book/body/191205553-3/0/1555/0.html#.. Accessed Jan. 13, 2011.
- Farrrell TW. Congenital adrenal hyperplasia. In: Ferri FF. Ferri's Clinical Advisor 2011: Instant Diagnosis and Treatment. Philadelphia, Pa.: Mosby Elsevier; 2011. http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-0-323-05610-6..C2009-0-38600-6--TOP&isbn=978-0-323-05610-6&about=true&uniqId=230100505-53. Accessed Jan. 13, 2011.
- Congenital adrenal hyperplasia. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merckmanuals.com/professional/sec19/ch282/ch282e.html. Accessed Jan. 13, 2011.
- Nordenskjöld A, et al. Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia. Journal of Clinical Endocrinology & Metabolism. 2008;93:380.
- Frisen L, et al. Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency. Journal of Clinical Endocrinology & Metabolism. 2009;94:3432.
- Nippoldt TB (expert opinion). Mayo Clinic, Rochester, Minn. Feb. 18, 2011.
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