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Sharon E. Oberfield, Phyllis W. Speiser, The Hormone Foundation’s Patient Guide to Congenital Adrenal Hyperplasia, The Journal of Clinical Endocrinology & Metabolism, Volume 95, Issue 9, 1 September 2010, Pages E9–E10, https://doi.org/10.1210/jcem.95.9.9986
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What is congenital adrenal hyperplasia?
Congenital adrenal hyperplasia (CAH) is a genetic disorder of the adrenal glands that affects about one in 10,000 to 15,000 newborns, both male and female. The adrenals, which sit on top of the kidneys, make steroid hormones that are necessary for healthy body functions. Normally, the adrenals produce cortisol (a glucocorticoid), aldosterone (a mineralocorticoid), and androgens (male sex hormones).
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The most common form of CAH results from having too little cortisol and aldosterone and having too much androgen.
CAH is caused by a defect in the genes that control the production of certain enzymes. Enzymes are proteins that increase the rate of chemical reactions in the body and are needed to produce adrenal hormones. The enzyme most commonly lacking in CAH is 21-hydroxylase (21-OH). For this reason, CAH is sometimes called 21-OH deficiency and can be severe, moderate, or mild. This patient guide is based on clinical guidelines developed by The Endocrine Society to provide doctors with the most up-to-date scientific information on managing CAH.