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Congenital Adrenal Hyperplasia (CAH) includes a group of disorders, in which the cortisol production by
adrenals is lowered. There are several different forms of CAH, each related to one of the enzymes
necessary to transform precursors to cortisol. When one of these enzymes is deficient, this leads to a
hyper function and increased size (hyperplasia) of the adrenals.
Among the various forms of CAH, the 21-hydroxylase deficiency is by far the most frequent, representing
more than 90 of all cases. 21-hydroxylase deficiency results in high level of circulating 17-
hydroxyprogesterone. Various mut
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