The genetic and functional basis of isolated 17,20–lyase deficiency

  title={The genetic and functional basis of isolated 17,20–lyase deficiency},
  author={David H. Geller and Richard J Auchus and Berenice B Mendonca and Walter Miller},
  journal={Nature Genetics},
Human male sexual differentiation requires production of fetal testicular testosterone, whose biosynthesis requires steroid 17,20-lyase activity1,2. Patients with putative isolated 17,20-lyase deficiency have been reported3,4. The existence of true isolated 17,20-lyase deficiency, however, has been questioned because 17α-hydroxylase and 17,20-lyase activities are catalyzed by a single enzyme5–8, microsomal cytochrome P450c17, and because the index case of apparent isolated 17,20-lyase… CONTINUE READING