21-hydroxylase sentence example

  • Congenital adrenal hyperplasia (CAH) is a form of adrenal insufficiency in which 21-hydroxylase, the enzyme that produces two important adrenal steroid hormones, cortisol and aldosterone, is deficient.
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  • In its most severe form, called salt-wasting (or salt-losing) CAH, where there is a total or near total deficiency of the 21-hydroxylase enzyme, a life-threatening adrenal crisis can occur if the disorder is untreated.
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  • There is also a milder form of CAH in which children have partial 21-hydroxylase enzyme deficiencies (simple virilizing form).
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  • Another type of CAH is characterized by only a slight deficiency in production of the 21-hydroxylase enzyme (nonclassic or late-onset form), in which symptoms occurs later in childhood or during young adolescence.
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  • The 21-hydroxylase gene is made by a gene located on the short arm of chromosome 6.
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  • When 21-hydroxylase is deficient, this leads to a hyperfunction and increased size (hyperplasia) of the adrenals.
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