Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.

@article{Auchus2017Steroid1A,
  title={Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.},
  author={Richard J Auchus},
  journal={The Journal of steroid biochemistry and molecular biology},
  year={2017},
  volume={165 Pt A},
  pages={71-78}
}
Steroid 17-hydroxylase 17,20-lyase (cytochrome P450c17, P450 17A1, CYP17A1) catalyzes two major reactions: steroid 17-hydroxylation followed by the 17,20-lyase reactions. The most severe mutations in the cognate CYP17A1 gene abrogate all activities and cause combined 17-hydroxylase/17,20-lyase deficiency (17OHD), a biochemical phenotype that is replicated by treatment with the potent CYP17A1 inhibitor abiraterone acetate. The adrenals of patients with 17OHD synthesize 11-deoxycorticosterone… CONTINUE READING
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