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Definition
By Mayo Clinic staff
Congenital adrenal hyperplasia is a family of genetic conditions affecting your adrenal glands. It can interfere with normal growth and development in children — including normal development of the genitals. It affects both males and females.
In children and adults with congenital adrenal hyperplasia, the adrenal glands typically don't produce enough of the hormone cortisol.
Congenital adrenal hyperplasia may also result in the adrenals making abnormal levels of two other classes of hormones — mineralocorticoids (for example, aldosterone) and androgens (for example, testosterone).
Although congenital adrenal hyperplasia can be life-threatening, most people with it can lead normal lives with proper treatment.
- Congenital adrenal hyperplasia. Institute of Child Health and Human Development. http://www.nichd.nih.gov/health/topics/Congenital_Adrenal_Hyperplasia.cfm. Accessed Jan. 29, 2009.
- Stewart PM. The adrenal cortex. In: Kronenberg HM, et al. Kronenberg: Williams Textbook of Endocrinology. 11th ed. Philadelphia, Pa.: Saunders Elsevier; 2008:445
- Bora N. Congenital adrenal hyperplasia. In: Ferri FF. Ferri's Clinical Advisor 2009. St. Louis, Mo.: Mosby; 2008:216.
- Adrenal diseases — congenital adrenal hyperplasia (CAH): The facts you need to know. National Adrenal Diseases Foundation. http://www.nadf.us/diseases/cah.htm. Accessed Jan. 29, 2009.
- Nieman LK. Genetics and clinical presentation of nonclassic (late-onset) congenital adrenal hyperplasia due to CYP21A2 (21-hydroxylase) deficiency. http://www.uptodate.com/home/index.html. Accessed Jan. 29, 2009.
- Merke DP. Genetics and clinical presentation of classic congenital adrenal hyperplasia due to CYP21A2 (21-hydroxylase) deficiency. http://www.uptodate.com/home/index.html. Accessed Jan. 29, 2009.
- Parks JS, et al. Congenital adrenal hyperplasia and related disorders. In: Kliegman RM, et al. Kliegman: Nelson Textbook of Pediatrics. 18th ed. Saunders Elsevier; 2007:2360.
- Diamond DA. Sexual differentiation: Normal and abnormal. In: Wein AJ. Wein: Campbell-Walsh Urology. 9th ed. Saunders Elsevier; 2007:3799.
- Gastaud F, et al. Impaired sexual and reproductive outcomes in women with classical forms of congenital adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism. 2007;92:1391.
- Nieman LK. Treatment of classic congenital adrenal hyperplasia due to CYP21A2 (21-hydroxylase) deficiency in adults. http://www.uptodate.com/home/index.html. Accessed Jan. 29, 2009.
- Nippoldt TB (expert opinion). Mayo Clinic, Rochester, Minn. Feb. 4, 2009.
