Abstract
Steroid 17-hydroxylase 17,20-lyase (cytochrome P450 17A1, CYP17A1) occupies a critical position in the pathways of human steroidogenesis and regulates the classes of steroid hormones produced by cells of the adrenal glands and gonads. CYP17A1 catalyzes two major reactions, the 17-hydroxylase and 17,20-lyase reactions. Mutations that compromise all CYP17A1 activities cause combined 17-hydroxylase/17,20-lyase deficiency, which presents as hypertension, hypokalemia, and sexual infantilism. A few mutations selectively or preferentially impair 17,20-lyase activity, and some mutations in cofactor proteins cytochrome P450-oxidoreductase and cytochrome b5 also disrupt 17,20-lyase activity without much effect on 17-hydroxylation. This chapter reviews the genetics, clinical presentation, management, and history of these disorders.
Published Version
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