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17α-hydroxylase/17,20-lyase Deficiency

Partial 17alpha-hydroxylase/17,20-lyase deficiency–clinical report of five Chinese 46,XX cases

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Pages 362-367 | Received 03 Sep 2007, Accepted 14 Nov 2007, Published online: 07 Jul 2009

References

  • Yanase T, Simpson E R, Waterman M R. 17α-Hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition. Endocr Rev 1991; 12: 91–108
  • Zhang Z, Yu Z, Chi Z. 17α-Hydroylasede deficiency – 3 cases report. Chin J Intern Med 1983; 22: 565–567
  • Yu Q, Wang H, He F. A clinical analysis of 13 cases of 17α-hydroylase deficiency. J Chin Pract Gyncol Obstet 2004; 20: 656–658
  • Yanase T. 17α-Hydroxylase/17,20-lyase defects. J Steroid Biochem Mol Biol 1995; 53: 153–157
  • Yanase T, Kagimoto M, Matsui N, Simpson E R, Waterman M R. Combined 17α-Hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17α-hydroxylase cytochrome P450. Mol Cell Endocrinol 1988; 59: 249–253
  • Kagimoto M, Winter J SD, Kagimoto K, Simpson E R, Waterman M R. Structural characterization of normal and mutant human steroid 17α-hydroxylase genes: molecular bases of an example of combined 17α-hydroxylase/17,20-lyase deficiency. Mol Endocrinol 1988; 2: 564–570
  • Kagimoto K, Waterman M R, Kagimoto M, Ferreira P, Simpson E R, Winter J S. Identification of a common molecular basis for combined 17α-hydroxylase/17,20-lyase deficiency in two Mennonite families. Hum Genet 1989; 82: 285–286
  • Imai T, Yanase T, Waterman M R, Simpson E R, Pratt J J. Canadian Mennonites and individuals residing in the Friesland region of the Netherlands share the same molecular basis of 17α-hydroxylase deficiency. Hum Genet 1992; 89: 95–96
  • Yanase T, Kagimoto M, Suzuki S, Simpson E R, Waterman M R. Deletion of a phenylalanine in the N-terminal region of human cytochrome P-45017α results in partial combined 17α-hydroxylase/17,20-lyase deficiency. J Biol Chem 1989; 264: 18076–18082
  • Yang J, Li X, Yu F. Accidental hypertension and bilateral hyperadrenal hyperplasia. China Medical Tribune 2006; 4: 22

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