Congenital adrenal hyperplasia
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"Adrenal hyperplasia" redirects here. See also primary aldosteronism or Cushing's syndrome.
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis.[1][2] It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex.[3] Most of these disorders involve excessive or deficient production of hormones such as glucocorticoids, mineralocorticoids, or sex steroids,[4][2] and can alter development of primary or secondary sex characteristics in some affected infants, children, or adults.[5] It is one of the most common autosomal recessive disorders in humans.[6][7][8]
Quick Facts Specialty, Symptoms ...
Congenital adrenal hyperplasia | |
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Congenital adrenal hyperplasia enzymes. | |
Specialty | Endocrinology |
Symptoms | Excessive urination of sodium, virilism, early, delayed, or absent puberty, hyperandrogenism |
Usual onset | Before birth |
Duration | Lifetime |
Causes | Variants in genes responsible the enzymes required for the synthesis of cortisol in the adrenal cortex |
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