Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X.

  title={Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X.},
  author={Ren{\'e}e C Kok and Marianna A Timmerman and Katja Pollina Wolffenbuttel and Stenvert L. S. Drop and Frank H. de Jong},
  journal={The Journal of clinical endocrinology and metabolism},
  volume={95 3},
CONTEXT Cytochrome P450c17 (P450c17) is a bifunctional enzyme necessary for the production of glucocorticoids (17-hydroxylase activity) and sex steroids (17,20-lyase activity). Isolated 17,20-lyase deficiency is a rare condition characterized by a deficient production of androgens resulting in 46,XY disorders of sex development (DSD) while the production of glucocorticoids is intact. Several missense mutations in the CYP17A1 gene are known to cause this condition. Cytochrome b(5) (CytB5) is an… CONTINUE READING
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