• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

促卵泡激素的血清浓度可能预示着脆性X前突变女性的卵巢早衰。

Serum concentrations of follicle stimulating hormone may predict premature ovarian failure in FRAXA premutation women.

作者信息

Murray A, Webb J, MacSwiney F, Shipley E L, Morton N E, Conway G S

机构信息

Wessex Regional Genetics, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK.

出版信息

Hum Reprod. 1999 May;14(5):1217-8. doi: 10.1093/humrep/14.5.1217.

DOI:10.1093/humrep/14.5.1217
PMID:10325264
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3728645/
Abstract

It is now recognized that female carriers of fragile X premutations are at increased risk of premature ovarian failure. We have studied 51 premenopausal women from fragile X families, to determine whether premutation carriers have variations in the hormonal markers of menopause, compared to full mutations and controls. We found a significant increase in serum follicle stimulating hormone in premutation carriers, suggesting that as a group they will enter menopause before full mutation carriers and unaffected controls. These results have important implications for fertility in these women.

摘要

现在人们认识到，脆性X前突变的女性携带者过早卵巢功能衰竭的风险增加。我们研究了来自脆性X家族的51名绝经前女性，以确定前突变携带者与完全突变者和对照组相比，在绝经激素标志物方面是否存在差异。我们发现前突变携带者的血清卵泡刺激素显著增加，这表明作为一个群体，她们将比完全突变携带者和未受影响的对照组更早进入更年期。这些结果对这些女性的生育能力具有重要意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7a9/3728645/f5c3972620e9/emss-54013-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7a9/3728645/f5c3972620e9/emss-54013-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7a9/3728645/f5c3972620e9/emss-54013-f0001.jpg

相似文献

1
Serum concentrations of follicle stimulating hormone may predict premature ovarian failure in FRAXA premutation women.促卵泡激素的血清浓度可能预示着脆性X前突变女性的卵巢早衰。
Hum Reprod. 1999 May;14(5):1217-8. doi: 10.1093/humrep/14.5.1217.
2
Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives.
Hum Reprod. 2001 Mar;16(3):457-62. doi: 10.1093/humrep/16.3.457.
3
Premature ovarian failure and fragile X premutation: a study on 45 women.
Eur J Obstet Gynecol Reprod Biol. 2004 Feb 10;112(2):189-91. doi: 10.1016/j.ejogrb.2003.06.003.
4
Fragile X premutation screening in women with premature ovarian failure.
Hum Reprod. 1998 May;13(5):1184-7. doi: 10.1093/humrep/13.5.1184.
5
The ovarian response in fragile X patients and premutation carriers undergoing IVF-PGD: reappraisal.脆性 X 综合征患者和脆性 X 前突变携带者行 IVF-PGD 中的卵巢反应：再评估。
Hum Reprod. 2017 Jul 1;32(7):1508-1511. doi: 10.1093/humrep/dex090.
6
Association between idiopathic premature ovarian failure and fragile X premutation.特发性卵巢早衰与脆性X前突变之间的关联。
Hum Reprod. 2000 Jan;15(1):197-202. doi: 10.1093/humrep/15.1.197.
7
Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry.一个大型土耳其队列中的脆性X相关的卵巢早衰：哈杰泰佩脆性X登记处的研究结果
Eur J Obstet Gynecol Reprod Biol. 2018 Feb;221:76-80. doi: 10.1016/j.ejogrb.2017.12.028. Epub 2017 Dec 16.
8
Reproductive and menstrual history of females with fragile X expansions.具有脆性X染色体扩增的女性的生殖和月经史。
Eur J Hum Genet. 2000 Apr;8(4):247-52. doi: 10.1038/sj.ejhg.5200451.
9
Fragile X premutation in women with sporadic premature ovarian failure in Slovenia.斯洛文尼亚散发性卵巢早衰女性中的脆性X前突变
Hum Reprod. 2003 Aug;18(8):1637-40. doi: 10.1093/humrep/deg327.
10
Curvilinear association of CGG repeats and age at menopause in women with FMR1 premutation expansions.携带FMR1前突变扩展的女性中，CGG重复序列与绝经年龄之间的曲线关联。
Am J Med Genet B Neuropsychiatr Genet. 2014 Dec;165B(8):705-11. doi: 10.1002/ajmg.b.32277. Epub 2014 Oct 25.

引用本文的文献

1
Molecular Pathogenesis and Peripheral Monitoring of Adult Fragile X-Associated Syndromes.成年脆性 X 相关综合征的分子发病机制和外周监测。
Int J Mol Sci. 2021 Aug 4;22(16):8368. doi: 10.3390/ijms22168368.
2
Ectopic expression of CGG-repeats alters ovarian response to gonadotropins and leads to infertility in a murine FMR1 premutation model.CGG 重复序列的异位表达改变了卵巢对促性腺激素的反应，导致 FMR1 前突变模型小鼠不孕。
Hum Mol Genet. 2021 May 29;30(10):923-938. doi: 10.1093/hmg/ddab083.
3
The molecular mechanisms that underlie fragile X-associated premature ovarian insufficiency: is it RNA or protein based?脆性 X 相关的卵巢早衰的分子机制基础：是基于 RNA 还是蛋白质？
Mol Hum Reprod. 2020 Oct 1;26(10):727-737. doi: 10.1093/molehr/gaaa057.
4
The RNA-binding fragile-X mental retardation protein and its role beyond the brain.RNA结合脆性X智力低下蛋白及其在脑外的作用。
Biophys Rev. 2020 Aug;12(4):903-916. doi: 10.1007/s12551-020-00730-4. Epub 2020 Jul 11.
5
Are ovarian response and pregnancy rates similar in selected FMR1 premutated and mutated patients undergoing preimplantation genetic testing?选择的脆性 X 智力低下基因 1 前突变和突变患者进行胚胎植入前遗传学检测，卵巢反应和妊娠率是否相似？
J Assist Reprod Genet. 2020 Jul;37(7):1675-1683. doi: 10.1007/s10815-020-01809-3. Epub 2020 Jun 2.
6
Does the presence of AGG interruptions within the CGG repeat tract have a protective effect on the fertility phenotype of female FMR1 premutation carriers?脆性 X 智力低下 1 号基因（FMR1）CGG 重复序列中存在 AGG 中断是否对女性脆性 X 智力低下 1 号基因前突变携带者的生育表型具有保护作用？
J Assist Reprod Genet. 2020 Apr;37(4):849-854. doi: 10.1007/s10815-020-01701-0. Epub 2020 Feb 24.
7
Defining the role of FMR1 gene in unexplained recurrent spontaneous abortion.定义 FMR1 基因在不明原因复发性自然流产中的作用。
J Assist Reprod Genet. 2019 Nov;36(11):2245-2250. doi: 10.1007/s10815-019-01591-x. Epub 2019 Oct 17.
8
Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review.脆性X染色体相关的原发性卵巢功能不全（FXPOI）：病例报告及文献综述
Front Genet. 2018 Nov 27;9:529. doi: 10.3389/fgene.2018.00529. eCollection 2018.
9
Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations.脆性X染色体相关的卵巢储备功能减退和原发性卵巢功能不全：从分子机制到临床表现
Front Mol Neurosci. 2017 Sep 12;10:290. doi: 10.3389/fnmol.2017.00290. eCollection 2017.
10
Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene.原发性卵巢功能不全的遗传病因学研究：FMR1基因
Genes (Basel). 2016 Dec 13;7(12):123. doi: 10.3390/genes7120123.

本文引用的文献

1
Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data.脆性X前突变是卵巢早衰的一个重要风险因素：脆性X国际卵巢早衰协作研究——初步数据。
Am J Med Genet. 1999 Apr 2;83(4):322-5.
2
Inheritance in idiopathic premature ovarian failure: analysis of 71 cases.
Hum Reprod. 1998 Jul;13(7):1796-800. doi: 10.1093/humrep/13.7.1796.
3
Fragile X premutation screening in women with premature ovarian failure.
Hum Reprod. 1998 May;13(5):1184-7. doi: 10.1093/humrep/13.5.1184.
4
Confirmation of early menopause in fragile X carriers.
Am J Med Genet. 1996 Aug 9;64(2):370-2. doi: 10.1002/(SICI)1096-8628(19960809)64:2<370::AID-AJMG27>3.0.CO;2-B.
5
Obstetrical and gynecological complications in fragile X carriers: a multicenter study.脆性X携带者的妇产科并发症：一项多中心研究。
Am J Med Genet. 1994 Jul 15;51(4):400-2. doi: 10.1002/ajmg.1320510419.
6
Prognostic assessment of ovarian reserve.
Fertil Steril. 1995 Jan;63(1):1-11.
7
Fragile X premutations in familial premature ovarian failure.
Lancet. 1995 Jul 29;346(8970):309-10. doi: 10.1016/s0140-6736(95)92194-x.
8
The significance of FSH elevation in young women with disorders of ovulation.促卵泡生成素升高在排卵功能障碍年轻女性中的意义。
Br Med J. 1980 Nov 29;281(6253):1447-50. doi: 10.1136/bmj.281.6253.1447.
9
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.鉴定出一个含有CGG重复序列的基因（FMR-1），该基因与脆性X综合征中表现出长度变异的断点簇区域一致。
Cell. 1991 May 31;65(5):905-14. doi: 10.1016/0092-8674(91)90397-h.
10
Age related changes in follicle stimulating hormone, luteinizing hormone, oestradiol and immunoreactive inhibin in women of reproductive age.育龄期女性促卵泡生成素、促黄体生成素、雌二醇及免疫反应性抑制素的年龄相关变化。
Clin Endocrinol (Oxf). 1992 Apr;36(4):339-45. doi: 10.1111/j.1365-2265.1992.tb01457.x.