The genetics, pathophysiology, and management of human deficiencies of P450c17.

@article{Auchus2001TheGP,
  title={The genetics, pathophysiology, and management of human deficiencies of P450c17.},
  author={Richard J. Auchus},
  journal={Endocrinology and metabolism clinics of North America},
  year={2001},
  volume={30 1},
  pages={
          101-19, vii
        }
}
  • Richard J. Auchus
  • Published in
    Endocrinology and metabolism…
    2001
  • Biology, Medicine
  • P450c17 commands a central role in human steroidogenesis as the qualitative regulator of steroid hormone flux. Consequently, the study of P450c17 deficiencies in human beings serves to illustrate many aspects of the physiology of steroid biosynthesis and to demonstrate salient features of the genetics and biochemistry of P450c17 itself. Furthermore, classic 17-hydroxylase deficiency was first described in patients with sexual infantilism and hypertension, but it is now recognized that partial… CONTINUE READING

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