Congenital adrenal hyperplasia | |
---|---|
![]() | |
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 |
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]
© MMXXIII Rich X Search. We shall prevail. All rights reserved. Rich X Search