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多囊卵巢综合征家系遗传特征的研究进展 被引量：5

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摘要 多囊卵巢综合征（polycystic ovary syndrome，PCOS）是生育年龄女性最常见的生殖内分泌疾病之一，临床表现各异，为异质性疾病^[1]。其典型的临床表现有月经紊乱、稀发甚至闭经、不孕、多毛、肥胖、痤疮、卵巢多囊性变等，典型的生化特征有：高雄激素血症、高胰岛素血症和胰岛素抵抗、促性腺激素功能失调等。
作者 张颖 杨新鸣 闫巍 吴效科
机构地区 黑龙江中医药大学第一附属医院妇产科
出处 《医学研究杂志》 2009年第12期120-122,共3页 Journal of Medical Research
关键词 多囊卵巢综合征 遗传特征 生殖内分泌疾病 家系 高雄激素血症 高胰岛素血症 临床表现 异质性疾病
分类号 R711.75 [医药卫生—妇产科学] R394 [医药卫生—医学遗传学]
  • 相关文献

参考文献20

  • 1Crosignani PG, Nicolosi AE. Polycystic ovarian disease: heritability and heterogeneity. Hum Reprod Update ,2001,7 ( 1 ) :3 -7.
  • 2Vink J . Heritability of polycystic ovary syndrome in a Dutch twin - family study. J Clin Endocrinol Metab , 2005 , 91 (6) :2100 - 2104.
  • 3Amat o P , Simpson J L . The genetics of polycystic ovary syndrome [J]. Best Pract Res Clin Obstet Gynaecol , 2004 , 18(5) :707- 718.
  • 4Stephen Franks, Lisa J. Webber, Micaela Goh, et al. Ovarian Morphology Is a Marker of Heritable Biochemical Traits in Sisters with Polycystic Ovaries. J Clin Endocrinol Metab. September 2008, 93 (9) :3396 -3402.
  • 5Simpson J L. Molecular app roach t o common causes of female infertility[J]. Best Pract Res Clin Obstet Gynaecol , 2002 , 16(5) : 685 - 702.
  • 6Norman R J, Masters S, Hague W . Hyperinsulinemia is common in family members of women with polycystic ovary syndrome. Fertil Steril,1996, 66(6) :942 -947.
  • 7王勇,朱雅男,吴效科.多囊卵巢综合征发病的遗传学研究进展[J].中华医学杂志,2004,84(10):876-879. 被引量：15
  • 8Kahsar M , Nixon C , Boots L R ,et al. Prevalence of polycystic ovary syndrome in First- degree relatives of patients with PCOS[ J ].FertilSteril , 2001 ,75(1) :53 -58.
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  • 10Jahanfar S, Eden JA, Warren P, et al. A twin study of polycystic ovary syndrome. Fertil Steril, 1995, 63 (3) :478 - 486.

二级参考文献21

  • 1Elting MW, Korsen TJ, Rekers-Mombarg LT, et al. Women with polycystic ovary syndrome gain regular menstrual cycles when ageing. Hum Reprod, 2000, 15:24-28.
  • 2Winters SJ, Talbott E, Guzick DS, et al. Serum testosterone levels decrease in middle age in women with the polycystic ovary syndrome. Fertil Steril, 2000, 73:724-727.
  • 3Wood JR. The molecular phenotype of polycystic ovary syndrome (PCOS) theca cells and new candidate PCOS genes defined by microarray analysis J Biol Chem, 2003, 278:26380-26290.
  • 4Diamanti-Kandarakis E, Bartzis MI, Bergiele AT, et al. Microsatellite polymorphism (tttta)(n) at -528 base pairs of gene cyp11alpha influences hyperandrogenemia in patients with polycystic ovary syndrome. Fertil Steril, 2000, 73:735-741.
  • 5San Millan JL, Sancho J, Calvo RM, et al. 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.
  • 6Witchel SF, Aston CE. The role of heterozygosity for cyp21 in the polycystic ovary syndrome. J Pediatr Endocrinol Metab, 2000, 13:1315-1317.
  • 7Draper N, Walker EA, Bujalska IJ, et al. Mutations in the genes encoding 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency, Nature Genetics, 2003, 34:434 -439.
  • 8Zhao SP, Tang XM, Shao DH, et al. Association study between a polymorphism of aldosterone synthetase gene and the pathogenesis of polycystic ovary syndrome. Chin J Obstet Gynecol, 2003, 38:94-97.赵淑萍,汤秀明,邵冬红,等.
  • 9Hogeveen KN, Cousin P, Pugeat M, et al. Hammond GL. Human sex hormone-binding globulin variants associated with hyperandrogenism and ovarian dysfunction. J Clin Invest, 2002, 109: 973-978.
  • 10Tomboc M, Witchel SF. Frequencies of the D85 and Y85 variants of UGT2B15 in children and adolescent girls with hyperandrogenism. J Pediatr Endocrinol Metab, 2003, 16:719-726.

共引文献14

同被引文献84

  • 1王玉蓉,曹云霞,丛林,魏兆莲,周平.多囊卵巢综合征患者的调查及心理分析[J].安徽医科大学学报,2005,40(3):277-279. 被引量：29
  • 2Franks S. Polycystic ovary syndrome [J]. N Engl J Med, 1995,333 ( 13):853-861.
  • 3Sam S,Coviello AD,Sung YA,et al. Metabolic phenotype in the brothers of women with polyeystie ovary syndrome [J]. Diabetes Care,2008,31(6): 1237-1241.
  • 4Sasidevi A, Vellanki P, Kunselman AR, et al. Familial aggregation of circulating c-reactive protein in polycystic ovary syndrome [J]. Hum Reprod,2013,28(3 ) :770-776.
  • 5Prapas N, Karkanaki A, Prapas I, et al. Genetics of polycystic ovary, syndrome [J]. Hippokratia, 2009,13 (4) : 216-223.
  • 6Raja-Khan N,Kunselman AR,Demers LM,et al. A variant in the fibrillin-3 gene is associated with TGF-13 and inhibin B levels in women with polycystic ovary syndrome [J]. Fertil Steril,2010,94 (7) :2916-2919.
  • 7Xie GB,Xu P,Che YN ,et al. Mierosatellite polymorphism in the fibrillin 3 gene and susceptibility to PCOS:a case-control study and meta-analysis [J]. Reprod Biomed Online, 2013,26 ( 2 ) : 168- 174.
  • 8Jordan CD ,Bohling SD,Charbonneau NL,et al. Fibrillins in adult human ovary and polycystic ovary syndrome:is fibrillin-3 affected in PCOS? [J]. J Histochem Cytochem,2010,58(10): 903 -915.
  • 9Hatzirodos N,Bayne RA,Irving-Rodgers HF,et al. Linkage of regulators of TGF-13 activity in the fetal ovary to polycystic ovary syndrome [J]. FASEB J, 2011,25(7 ) : 2256-2265.
  • 10Kosova G, Urbanek M. Genetics of the polyeystic ovary syndrome [J]. Mol Cell EndocrinoL, 2013,373 (1/2) : 29-38.

引证文献5

二级引证文献26

医学研究杂志
2009年 第12期

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