Two novel CYP21A2 missense mutations in
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Paola Concolino; Francesca Vendittelli; Enrica Mello; Cristiana Carelli Alinovi;
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Article
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2009
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John Wiley and Sons
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English
β 225 KB
## Abstract Steroid 21βhydroxylase deficiency is present in more than 90% of patients with congenital adrenal hyperplasia (CAH), an inherited metabolic disorder of adrenal steroidogenesis. Impaired enzymatic activity leads to the accumulation of metabolic intermediates (progesterone and 17βhydroxyp