What Is Congenital Adrenal Hyperplasia (CAH)?

CAH causes the body’s adrenal glands to stop producing enough hormones like cortisol (helps the body’s response to stress) and aldosterone (regulates blood pressure in the body), causing the overproduction of androgens (male sex hormones).

In children, CAH may cause symptoms such as atypical genitalia, where external sex characteristics may not clearly be male or female, and early signs of puberty.Footnote1

CAH may also contribute to other health conditions, including growth and development issues and increased risk for fertility complications, heart problems, obesity, and bone problems. Footnote1

CAH is typically treated with glucocorticoids (GCs). These medications are used to replace the hormones that the adrenal glands struggle to make and are intended to slow down the overproduction of androgens.Footnote1

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References

  1. Merke DP, Auchus RJ. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med. 2020;383(13):1248–1261.