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Gynecological Endocrinology Volume 26, 2010 - Issue 8
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PCOS

Lack of association between CYP21 V281L variant and polycystic ovary syndrome in Italian women

Laura PucciDepartment of Endocrinology and Metabolism, Section of Diabetes and Metabolic Diseases, University of Pisa, Pisa, Italy
,
Daniela LucchesiDepartment of Endocrinology and Metabolism, Section of Diabetes and Metabolic Diseases, University of Pisa, Pisa, Italy
,
Vincenzo LongoCNR Pisa, Institute of Agricultural Biology and Biotechnology, Pisa, ItalyCorrespondence[email protected]
,
Stefano Del PratoDepartment of Endocrinology and Metabolism, Section of Diabetes and Metabolic Diseases, University of Pisa, Pisa, Italy
&
Silvia MaffeiCNR Pisa, Tuscany Foundation G. Monasterio and Institute of Clinical Physiology, Pisa, Italy
Pages 596-599 | Received 14 Sep 2009, Accepted 20 Jan 2010, Published online: 04 Mar 2010

References

  • Xita N, Georgiou I, Tsatsoulis A. The genetic basis of polycystic ovary syndrome. Eur J Endocrinol 2002;147:717–725.
  • Franks S, Gharani N, Gilling-Smith C. Polycystic ovary syndrome: evidence for a primary disorder of ovarian steroidogenesis. J Steroid Biochem Mol Biol 1999;69:269–272.
  • Urbanek M, Legro RS, Driscoll DA, Azziz R, Ehrmann DA, Norman RJ, Strauss JF IIIrd, Spielman RS, Dunaif A. Thirty-seven candidate genes for polycystic ovary syndrome: strongest evidence for linkage is with follistatin. Proc Natl Acad Sci USA 1999;96:8573–8578.
  • Witchel SF, Kahsar-Miller M, Aston CE, White C, Azziz R. Al prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess. Fertility and Sterility 2005;83:371–375.
  • Gharani N, Waterworth DM, Batty S, White D, Gilling-Smith C, Conway GS, McCarthy M, Franks S, Williamson R. Association of the steroid synthesis gene CYP11a with polycystic ovary syndrome and hyperandrogenism. Hum Mol Genet 1997;6:397–402.
  • San Millán JL, Sancho J, Calvo RM, Escobar-Morreale HF. Role of the pentanucleotide (tttta)n polymorphism in the promoter of the CYP11a gene in the pathogenesis of hirsutism. Fertil Steril 2001;75:797–802.
  • Gharani N, Waterworth DM, Williamson R, Franks S. 5′ polymorphism of the CYP17 gene is not associated with serum testosterone levels in women with polycystic ovaries [letter]. J Clin Endocrinol Metab 1996;81:4174.
  • Escobar-Morreale HF, San Millán JL, Smith RR, Sancho J, Witchel SF. The presence of the 21-hydroxylase deficiency carrier status in hirsute women: phenotype-genotype correlations. Fertil Steril 1999;72:629–638.
  • Knochenhauer ES, Cortet-Rudelli C, Cunnigham RD, Conway-Myers BA, Dewailly D, Azziz R. Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism. J Clin Endocrinol Metab 1997;82:479–485.
  • Blanché H, Vexiau P, Clauin S, Le Gall I, Fiet J, Mornet E, Dausset J, Bellanné-Chantelot C. Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women. Hum Genet 1997;101:56–60.
  • Lajić S, Robins T, Krone N, Schwarz HP, Wedell A. Novel mutations in CYP21 detected in individuals with hyperandrogenism. J Clin Endocrinol Metab 2002;87:2824–2829.
  • White PE, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocrine Rev 2000;21:245–291.
  • Robins T, Bellanne-Chantelot C, Barbaro M, Cabrol S, Wedell A, Lajic S. Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia. J Mol Med 2007;85:247–255.
  • Stikkelbroeck NM, Hoefsloot LH, de Wijs IJ, Otten BJ, Hermus AR, Sistermans EA. CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in the Netherlands: six novel mutations and a specific cluster of four mutations. J Clin Endocrinol Metab 2003;88:3852–3859.
  • Azziz R, Carmina E, Dewailly D, Diamanti-Kandarakis E, Escobar-Morreale HF, Futterweit W, Janssen OE, Legro RS, Norman RJ, Taylor AE, Witchel SF. The androgen excess and PCOS society criteria for the polycystic ovary syndrome: the complete task force report. Fertil Steril 2009;91:456–488.
  • Blin N, Stafford DW. A general method for isolation of high molecular weight DNA from eukaryotes. Nucleic Acids Res 1976;3:2303–2308.

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