Endocrinology Medical News about CYP17A1 mutation

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Novel CYP17A1 mutation in a Japanese patient with combined 17alpha-hydroxylase/17,20-lyase deficiency
Metabolism-Clinical and Experimental, 10/13/09

Katsumata N et al. – The results indicate that the patient is a compound heterozygote for the deltaF54 and H383N mutations and that these mutations inactivate both 17alpha–hydroxylase and 17,20–lyase activities and give rise to clinically manifest combined 17alpha–hydroxylase/17,20–lyase deficiency.

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