Primary amenorrhea in two sisters: description of a Mexican family with 17α hydroxylase-17 lyase deficiency caused by arginine – stop mutation

References

• Biglieri EG, Herron MA, Brust N. 17-hydroxylation deficiency in man. J Clin Invest 1966;45:1946–1954.
   PubMed Web of Science ®Google Scholar
• Auchus RJ, Miller WL. Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations. Mol Endocrinol 1999;13:1169–1182.
   PubMed Web of Science ®Google Scholar
• Katagiri M, Kagawa N, Waterman MR. The role of cytochrome b5 in the biosynthesis of androgens by human P450c17. Arch Biochem Biophys 1995;317:343–347.
   PubMed Web of Science ®Google Scholar
• Miura K, Yasuda K, Yanase T, Yamakita N, Sasano H, Nawata H, Inoue M, et al. Mutation of cytochrome P-45017 alpha gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17. J Clin Endocrinol Metab 1996;81:3797–3801.
   PubMed Web of Science ®Google Scholar
• Miller WL. Steroid 17alpha-hydroxylase deficiency–not rare everywhere. J Clin Endocrinol Metab 2004;89:40–42.
   PubMed Web of Science ®Google Scholar
• Biglieri EG, Kater CE. 17 alpha-hydroxylation deficiency. Endocrinol Metab Clin North Am 1991;20:257–268.
   PubMed Web of Science ®Google Scholar
• Chung BC, Picado-Leonard J, Haniu M, Bienkowski M, Hall PF, Shively JE, Miller WL. Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues. Proc Natl Acad Sci USA 1987;84:407–411.
   PubMed Web of Science ®Google Scholar
• Kagimoto M, Winter JS, Kagimoto K, Simpson ER, Waterman MR. Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency. Mol Endocrinol 1988;2:564–570.
   PubMedGoogle Scholar
• Costa-Santos M, Kater CE, Auchus RJ; Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group. Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J Clin Endocrinol Metab 2004;89:49–60.
   PubMed Web of Science ®Google Scholar
• Bao X, Ding H, Xu Y, Cui G, He Y, Yu X, Wang DW. Prevalence of common mutations in the CYP17A1 gene in Chinese Han population. Clin Chim Acta 2011;412:1240–1243.
   PubMed Web of Science ®Google Scholar
• Yanase T, Simpson ER, Waterman MR. 17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition. Endocr Rev 1991;12:91–108.
   PubMed Web of Science ®Google Scholar
• Biglieri EG. 17 alpha-Hydroxylase deficiency: 1963-1966. J Clin Endocrinol Metab 1997;82:48–50.
   PubMed Web of Science ®Google Scholar
• Costa-Santos M, Kater CE, Dias EP, Auchus RJ. Two intronic mutations cause 17-hydroxylase deficiency by disrupting splice acceptor sites: direct demonstration of aberrant splicing and absent enzyme activity by expression of the entire CYP17 gene in HEK-293 cells. J Clin Endocrinol Metab 2004;89:43–48.
   PubMed Web of Science ®Google Scholar
• Ergun-Longmire B, Auchus R, Papari-Zareei M, Tansil S, Wilson RC, New MI. Two novel mutations found in a patient with 17alpha-hydroxylase enzyme deficiency. J Clin Endocrinol Metab 2006;91:4179–4182.
   PubMed Web of Science ®Google Scholar
• Gupta MK, Geller DH, Auchus RJ. Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency. J Clin Endocrinol Metab 2001;86:4416–4423.
   PubMed Web of Science ®Google Scholar
• Taniyama M, Tanabe M, Saito H, Ban Y, Nawata H, Yanase T. Subtle 17alpha-hydroxylase/17,20-lyase deficiency with homozygous Y201N mutation in an infertile woman. J Clin Endocrinol Metab 2005;90:2508–2511.
   PubMed Web of Science ®Google Scholar
• Di Cerbo A, Biason-Lauber A, Savino M, Piemontese MR, Di Giorgio A, Perona M, Savoia A. Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene. J Clin Endocrinol Metab 2002;87:898–905.
   PubMed Web of Science ®Google Scholar
• Suzuki Y, Nagashima T, Nomura Y, Onigata K, Nagashima K, Morikawa A. A new compound heterozygous mutation (W17X, 436 + 5G−> T) in the cytochrome P450c17 gene causes 17 alpha-hydroxylase/17,20-lyase deficiency. J Clin Endocrinol Metab 1998;83:199–202.
   PubMed Web of Science ®Google Scholar
• Kok RC, Timmerman MA, Wolffenbuttel KP, Drop SL, de Jong FH. Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X. J Clin Endocrinol Metab 2010;95:994–999.
   PubMed Web of Science ®Google Scholar
• Giordano SJ, Kaftory A, Steggles AW. A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism. Hum Genet 1994;93:568–570.
   PubMed Web of Science ®Google Scholar
• Pérez EG, del Rincón LG, Loza OT, de Saro MD, Palomo AS, Pedraza VS, Alfaro SK, García GE. P450C17 (CYP17) deficiency in native Mexican patient with a novel CYP17A1 mutation. Endocr Pract 2011;17:99–103.
   PubMed Web of Science ®Google Scholar
• Nájera N, Garibay N, Pastrana Y, Palma I, Peña YR, Pérez J, Coyote N, et al. Loss of cytochrome P450 17A1 protein expression in a 17alpha-hydroxylase/17,20-lyase-deficient 46,XY female caused by two novel mutations in the CYP17A1 gene. Endocr Pathol 2009;20:249–255.
   PubMed Web of Science ®Google Scholar
• Ahlgren R, Yanase T, Simpson ER, Winter JS, Waterman MR. Compound heterozygous mutations (Arg 239––stop, Pro 342––Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency. J Clin Endocrinol Metab 1992;74:667–672.
   PubMed Web of Science ®Google Scholar
• Gilep AA, Sushko TA, Usanov SA. At the crossroads of steroid hormone biosynthesis: the role, substrate specificity and evolutionary development of CYP17. Biochim Biophys Acta 2011;1814:200–209.
   PubMed Web of Science ®Google Scholar
• Rosa S, Steigert M, Lang-Muritano M, l’Allemand D, Schoenle EJ, Biason-Lauber A. Clinical, genetic and functional characteristics of three novel CYP17A1 mutations causing combined 17α-hydroxylase/17,20-lyase deficiency. Horm Res Paediatr 2010;73:198–204.
   PubMed Web of Science ®Google Scholar