CYP19 gene variants affect the assisted reproduction outcome of women with polycystic ovary syndrome

References

• Legro RS, Driscoll D, Strauss JF III, et al. Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome. Proc Natl Acad Sci USA 1998;95:14956–60
   PubMed Web of Science ®Google Scholar
• Abbott DH, Dumesic DA, Franks S. Developmental origin of polycystic ovary syndrome – a hypothesis. J Endocrinol 2002;174:1–5
   PubMed Web of Science ®Google Scholar
• Gabrilove JL. The pathogenesis of the polycystic ovary syndrome: a hypothesis. Endocr Pract 2002;8:127–32
   PubMedGoogle Scholar
• Shozu M, Akasofu K, Harada T, Kubota Y. A new cause of female pseudohermaphroditism: placental aromatase deficiency. J Clin Endocrinol Metabol 1991;72:560–6
   PubMed Web of Science ®Google Scholar
• Conte FA, Grumbach MM, Ito Y, et al. A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom). J Clin Endocrinol Metabol 1994;78:1287–92
   PubMed Web of Science ®Google Scholar
• Mullis PE, Yoshimura N, Kuhlmann B, et al. Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood. J Clin Endocrinol Metabol 1997;82:1739–45
   PubMed Web of Science ®Google Scholar
• Ludwig M, Beck A, Wickert L, et al. Female pseudohermaphroditism associated with a novel homozygous G-to-A (V370-to-M) substitution in the P-450 aromatase gene. J Pediatr Endocrinol Metab 1998;11:657–64
   PubMed Web of Science ®Google Scholar
• Belgorosky A, Pepe C, Marino R, et al. Hypothalamic-pituitary-ovarian axis during infancy, early and late prepuberty in an aromatase-deficient girl who is a compound heterocygote for two new point mutations of the CYP19 gene. J Clin Endocrinol Metabol 2003;88:5127–31
   PubMed Web of Science ®Google Scholar
• Lin L, Ercan O, Raza J, et al. Variable phenotypes associated with aromatase (CYP19) insufficiency in humans. J Clin Endocrinol Metabol 2007;92:982–90
   PubMed Web of Science ®Google Scholar
• Shetty G, Krishnamurthy H, Krishnamurthy HN, et al. Effect of estrogen deprivation on the reproductive physiology of male and female primates. J Steroid Biochem Mol Biol 1997;61:157–66
   PubMed Web of Science ®Google Scholar
• Britt KL, Findlay JK. Estrogen actions in the ovary revisited. J Endocrinol 2002;175:269–76
   PubMed Web of Science ®Google Scholar
• Xita N, Georgiou I, Lazaros L, et al. The synergistic effect of sex hormone-binding globulin and aromatase genes on polycystic ovary syndrome phenotype. Eur J Endocrinol 2008;158:861–5
   PubMed Web of Science ®Google Scholar
• Xita N, Lazaros L, Georgiou I, Tsatsoulis A. CYP19 gene: a genetic modifier of polycystic ovary syndrome phenotype. Fertil Steril 2010;94:250–4
   PubMed Web of Science ®Google Scholar
• Zawadzki JK, Dunaif A. Diagnostic criteria for polycystic ovary syndrome: towards a rational approach. In: Dunaif A, Givens JR, Haseltine F, Merriam GR, eds. Polycystic ovary syndrome. Boston; Blackwell; 1992:377–84
   Google Scholar
• Hatzi E, Bouba I, Galidi A, et al. Association of serum and follicular SHBG levels and SHBG(TAAAA)n polymorphism with follicle size in women undergoing ovarian stimulation. Gynecol Endocrinol 2011;27:27–32
   PubMed Web of Science ®Google Scholar
• Lazaros L, Xita N, Kaponis A, et al. The association of aromatase (CYP19) gene variants with sperm concentration and motility. Asian J Androl 2011;13:292–7
   PubMed Web of Science ®Google Scholar
• Haiman CA, Hankinson SE, Spiegelman D, et al. A tetranucleotide repeat polymorphism in CYP19 and breast cancer risk. Int J Cancer 2000;87:204–10
   PubMed Web of Science ®Google Scholar
• Tworoger SS, Chubak J, Aiello EJ, et al. Association of CYP17, CYP19, CYP1B1, and COMT polymorphisms with serum and urinary sex hormone concentrations in postmenopausal women. Cancer Epidemiol Biomarkers Prev 2004;13:94–101
   PubMed Web of Science ®Google Scholar
• Berstein LM, Imyanitov EN, Kovalevskij AJ, et al. CYP17 and CYP19 genetic polymorphisms in endometrial cancer: association with intratumoral aromatase activity. Cancer Letters 2004;207:191–6
   PubMed Web of Science ®Google Scholar
• Altmäe S, Haller K, Peters M, et al. Aromatase gene (CYP19A1) variants, female infertility and ovarian stimulation outcome: a preliminary report. Reprod Biomed Online 2009;18:651–7
   PubMed Web of Science ®Google Scholar
• Lazaros LA, Hatzi EG, Xita NV, et al. Aromatase (CYP19) gene variants influence ovarian response to standard gonadotrophin stimulation. J Assist Reprod Genet 2012;29:203–9
   PubMed Web of Science ®Google Scholar
• Richards JS. Maturation of ovarian follicles: actions and interactions of pituitary and ovarian hormones on follicular cell differentiation. Physiol Rev 1980;60:51–89
   PubMed Web of Science ®Google Scholar
• Gougeon A. Regulation of ovarian follicular development in primates: facts and hypotheses. Endocr Rev 1996;17:121–55
   PubMed Web of Science ®Google Scholar
• Luo W, Wiltbank MC. Distinct regulation by steroids of messenger RNAs for FSHR and CYP19A1 in bovine granulosa cells. Biol Reprod 2006;75:217–25
   PubMed Web of Science ®Google Scholar
• Britt KL, Drummond AE, Cox VA, et al. An age-related ovarian phenotype in mice with targeted disruption of the Cyp19 (aromatase) gene. Endocrinology 2000;141:2614–23
   PubMed Web of Science ®Google Scholar
• Bedaiwy MA, Mousa NA, Esfandiari N, et al. Follicular phase dynamics with combined aromatase inhibitor and follicle stimulating hormone treatment. J Clin Endocrinol Metabol 2007;92:825–33
   PubMed Web of Science ®Google Scholar
• Weil S, Vendola K, Zhou J, Bondy CA. Androgen and follicle-stimulating hormone interactions in primate ovarian follicle development. J Clin Endocrinol Metabol 1999;84:2951–6
   PubMed Web of Science ®Google Scholar
• Kyrou D, Popovic-Todorovic B, Fatemi HM, et al. Does the estradiol level on the day of human chorionic gonadotrophin administration have an impact on pregnancy rates in patients treated with rec-FSH/GnRH antagonist? Hum Reprod 2009;24:2902–9
   PubMed Web of Science ®Google Scholar
• Simón C, Cano F, Valbuena D, et al. Clinical evidence for a detrimental effect on uterine receptivity of high serum oestradiol concentrations in high and normal responder patients. Hum Reprod 1995;10:2432–7
   PubMed Web of Science ®Google Scholar
• Lee FK, Lai TH, Lin TK, et al. Relationship of progesterone/estradiol ratio on day of hCG administration and pregnancy outcomes in high responders undergoing in vitro fertilization. Fertil Steril 2009;92:1284–9
   PubMed Web of Science ®Google Scholar
• Chen QJ, Sun XX, Li L, et al. Effects of ovarian high response on implantation and pregnancy outcome during controlled ovarian hyperstimulation (with GnRH agonist and rFSH). Acta Obstet Gynecol Scand 2007;86:849–54
   PubMed Web of Science ®Google Scholar
• Valbuena D, Martin J, de Pablo JL, et al. Increasing levels of estradiol are deleterious to embryonic implantation because they directly affect the embryo. Fertil Steril 2001;76:962–8
   PubMed Web of Science ®Google Scholar
• Farhi J, Ben-Haroush A, Andrawus N, et al. High serum oestradiol concentrations in IVF cycles increase the risk of pregnancy complications related to abnormal placentation. Reprod Biomed Online 2010;21:331–7
   PubMed Web of Science ®Google Scholar