CAH - CONGENITAL ADRENAL HYPERPLASIA
C ongenital Adrenal Hyperplasia or CAH, is a disorder which is characterised by defects in enzyme that lead to various effects. The most common enzyme affected in CAH is 21 hydroxylases enzyme. The second most common enzyme to be affected is 11-β-hydroxylase enzyme. The gene CYP 21A 2 is affected, this is the same gene that codes for 21 hydroxylases. The following image shows the steroid pathway that takes place in the adrenal glands, where cholesterol is the basic material used for synthesis. Here 21 OH stands for 21 Hydroxylase, 11 beta signifies 11-β-hydroxylase. As the normal physiological process, 21 hydroxylase enzyme acts as an important enzyme for synthesis of corticosteroids and mineralocorticoids. As there is 21 hydroxylase deficiency there will be reduction in the production of corticosteroids and mineralocorticoids. Due to deficiency of mineralocorticoids, there will be salt and water wasting. As the levels of corticosteroids decrease
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