A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17 alpha-hydroxylase/17,20-lyase deficiency.

@article{Nuzzo2009ANM,
  title={A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17 alpha-hydroxylase/17,20-lyase deficiency.},
  author={Vincenzo Nuzzo and Libose Tauchmanov{\`a} and Raffaella Brunetti-Pierri and Alfonso Zuccoli and Giovanni Lupoli and Annamaria Colao and Nicola Brunetti-Pierri},
  journal={Journal of endocrinological investigation},
  year={2009},
  volume={32 4},
  pages={322-4}
}
The deficiency of 17 alpha-hydroxylase/17,20-lyase causes a rare autosomal recessive disorder presenting with congenital adrenal insufficiency (CAH) and sexual infantilism. Both 17 alpha-hydroxylase and 17,20-lyase reactions are catalyzed by a single polypeptide, cytochrome P450c17 (CYP17), which is encoded by the CYP17A1 gene. We describe the clinical… CONTINUE READING