Molecular analysis of mutated P450c21 in congenital adrenal hyperplasia

TL;DRAbstract

<p>Defects in cytochrome P450c21 (21-hydroxylase, 210H) are the most common causes of congenital adrenal hyperplasia (CAH). This recessively inherited disorder demonstrates a wide spectrum of severity as a consequence of impaired production of cortisol and aldosterone and excessive secretion of adrenal androgens. A limited number of mutations accounts for the majority (95%) of mutated alleles and genetic diagnostics based on detection of these common mutations is well established. However, additional rare mutations, usually specific for a single family or population, are responsible for this disorder in certain patients. Severe forms of 210H deficiency result in prenatal virilizing malformations of external genitalia in affected girls. In an attempt to prevent these malformations and avoid reconstructive surgery, prenatal treatment with dexamethasone (DEX) has been employed. Because eukaryotic cytochromes P450 are integral membrane proteins, it has been difficult to purify and cr

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