• 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

Monozygotic twins discordant for vaginal agenesis and bilateral tibial longitudinal deficiency.

作者信息

Steinkampf Michael P, Dharia Sejal P, Dickerson Ryan D

机构信息

Department of Obsterics and Gynacology, Division of Reproductive Endocrinology and Infertility, University of Alabama at Birmingham, Birmingham, Alabama 35249-7333, USA.

出版信息

Fertil Steril. 2003 Sep;80(3):643-5. doi: 10.1016/s0015-0282(03)00758-1.

DOI:10.1016/s0015-0282(03)00758-1
PMID:12969715
Abstract

OBJECTIVE

To report the first case of monozygotic twins with discordant congenital anomalies.

DESIGN

Descriptive case report.

SETTING

University hospital.

PATIENT(S): A 20-year woman with complete vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome) and right renal agenesis presented for creation of a neovagina. She had a monozygous twin confirmed by DNA testing using short tandem repeat (STR) loci; the twin had normal mullerian/mesonephric development but isolated bilateral tibial longitudinal deficiency.

INTERVENTION(S): The complete history, physical, and laboratory data of both the patient and her twin. Also, operative laparoscopy with creation of a neovagina in the patient.

MAIN OUTCOME MEASURE(S): Diagnosis and appropriate treatment of Mayer-Rokitansky-Kuster-Hauser syndrome and DNA testing with STR loci for monozygosity.

RESULT(S): The surgical resection of the bilateral uterine remnants, creation of a neovagina in the patient, and the demonstration of monozygosity with her twin with bilateral tibial longitudinal deficiency.

CONCLUSION(S): This case report suggests a link between developmental abnormalities of the genital and skeletal system.

摘要

相似文献

1
Monozygotic twins discordant for vaginal agenesis and bilateral tibial longitudinal deficiency.
Fertil Steril. 2003 Sep;80(3):643-5. doi: 10.1016/s0015-0282(03)00758-1.
2
Discordance in Mayer-von Rokitansky-Küster-Hauser Syndrome noted in monozygotic twins.单卵双胞胎中发现的迈耶-冯·罗基坦斯基-库斯特-豪泽综合征不一致情况。
J Pediatr Adolesc Gynecol. 2009 Aug;22(4):e73-5. doi: 10.1016/j.jpag.2008.07.012.
3
Laparoscopy-assisted Ruge procedure for the creation of a neovagina in a patient with Mayer-Rokitansky-Küster-Hauser syndrome.腹腔镜辅助鲁格手术用于为一名患有迈耶-罗基坦斯基-库斯特-豪泽综合征的患者创建新阴道。
Fertil Steril. 2000 Mar;73(3):641-4. doi: 10.1016/s0015-0282(99)00570-1.
4
Sexual response in women with Mayer-Rokitansky-Küster-Hauser syndrome with a nonsurgical neovagina.Mayer-Rokitansky-Küster-Hauser 综合征伴非手术性新阴道女性的性反应。
Am J Obstet Gynecol. 2018 Sep;219(3):283.e1-283.e8. doi: 10.1016/j.ajog.2018.07.012. Epub 2018 Jul 11.
5
Magnetic resonance imaging of vaginal support structure before and after Vecchietti procedure in women with Mayer-Rokitansky-Küster-Hauser syndrome.磁共振成像在 Mayer-Rokitansky-Küster-Hauser 综合征女性 Vecchietti 手术前后阴道支持结构中的应用。
Acta Obstet Gynecol Scand. 2018 Jul;97(7):830-837. doi: 10.1111/aogs.13350. Epub 2018 Apr 22.
6
Early prolapse of a neovagina created with self-dilatation and treated with sacrospinous ligament suspension in a patient with Mayer-Rokitansky-Küster-Hauser syndrome: a case report.患者患有 Mayer-Rokitansky-Küster-Hauser 综合征,采用自行扩张法创建的新阴道早期脱垂,采用骶棘韧带悬吊术治疗:病例报告。
Fertil Steril. 2010 Jan;93(1):267.e1-4. doi: 10.1016/j.fertnstert.2009.10.010. Epub 2009 Nov 12.
7
Functional and anatomic results after creation of a neovagina according to Wharton-Sheares-George in patients with Mayer-Rokitansky-Küster-Hauser syndrome-long-term follow-up.根据 Wharton-Sheares-George 法为 Mayer-Rokitansky-Küster-Hauser 综合征患者创建新阴道的功能和解剖结果-长期随访。
Fertil Steril. 2011 Aug;96(2):492-497.e1. doi: 10.1016/j.fertnstert.2011.06.004. Epub 2011 Jun 30.
8
Creation of a neovagina according to Wharton-Sheares-George in patients with Mayer-Rokitansky-Küster-Hauser syndrome.在迈耶-罗基坦斯基-库斯特-豪泽综合征患者中根据沃顿-希尔兹-乔治法创建新阴道。
Fertil Steril. 2005 Feb;83(2):437-41. doi: 10.1016/j.fertnstert.2004.06.079.
9
A simplified novel laparoscopic formation of neovagina for cases of Mayer-Rokitansky-Küster-Hauser syndrome.一种用于先天性无阴道综合征病例的简化新型腹腔镜下新阴道成形术。
Fertil Steril. 2007 Nov;88(5):1427-30. doi: 10.1016/j.fertnstert.2007.01.012. Epub 2007 Jun 28.
10
Mayer-Rokitansky-Küster-Hauser syndrome discordance in monozygotic twins: matrix metalloproteinase 14, low-density lipoprotein receptor-related protein 10, extracellular matrix, and neoangiogenesis genes identified as candidate genes in a tissue-specific mosaicism.单卵双胞胎中的 Mayer-Rokitansky-Küster-Hauser 综合征不一致性:基质金属蛋白酶 14、低密度脂蛋白受体相关蛋白 10、细胞外基质和新生血管生成基因被确定为组织特异性嵌合体中的候选基因。
Fertil Steril. 2015 Feb;103(2):494-502.e3. doi: 10.1016/j.fertnstert.2014.10.053. Epub 2014 Dec 6.

引用本文的文献

1
Prevalence of endometriosis in Mayer-Rokitansky-Küster-Hauser syndrome variants: a systematic review and meta-analysis.迈耶-罗基坦斯基-库斯特-豪泽综合征变体中子宫内膜异位症的患病率:一项系统评价和荟萃分析。
Hum Reprod. 2025 Jun 1;40(6):1094-1109. doi: 10.1093/humrep/deaf057.
2
Whole-genome and whole-exome sequencing of Mayer-Rokitansky-Küster-Hauser syndrome-discordant monozygotic twins.迈耶-罗基坦斯基-库斯特-豪泽综合征不一致的同卵双胞胎的全基因组和全外显子组测序
J Assist Reprod Genet. 2025 May;42(5):1577-1585. doi: 10.1007/s10815-025-03440-6. Epub 2025 Apr 12.
3
Molecular Basis of Müllerian Agenesis Causing Congenital Uterine Factor Infertility-A Systematic Review.
先天性子宫因素不孕中 Müllerian 发育不全的分子基础:系统综述。
Int J Mol Sci. 2023 Dec 21;25(1):120. doi: 10.3390/ijms25010120.
4
Genome Sequencing and Transcriptome Profiling in Twins Discordant for Mayer-Rokitansky-Küster-Hauser Syndrome.Mayer-Rokitansky-Küster-Hauser综合征不一致双胞胎的基因组测序和转录组分析
J Clin Med. 2022 Sep 23;11(19):5598. doi: 10.3390/jcm11195598.
5
Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature.Mayer-Rokitansky-Küster-Hauser(MRKH)综合征遗传病因的鉴定:文献系统综述
Children (Basel). 2022 Jun 27;9(7):961. doi: 10.3390/children9070961.
6
The Embryological Landscape of Mayer-Rokitansky-Kuster-Hauser Syndrome: Genetics and Environmental Factors.梅-罗二氏综合征的胚胎学研究:遗传学和环境因素。
Yale J Biol Med. 2021 Dec 29;94(4):657-672. eCollection 2021 Dec.
7
Studying Müllerian duct anomalies - from cataloguing phenotypes to discovering causation.研究 Müllerian 管异常——从表型分类到发现病因。
Dis Model Mech. 2021 Jun 1;14(6). doi: 10.1242/dmm.047977. Epub 2021 Jun 23.
8
A patient with unilateral tibial aplasia and accessory scrotum: a pure coincidence or nonfortuitous association?一名患有单侧胫骨发育不全和副阴囊的患者:纯属巧合还是必然关联?
Case Rep Med. 2010;2010:898636. doi: 10.1155/2010/898636. Epub 2010 Feb 3.
9
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.迈耶-罗基坦斯基-库斯特-豪泽综合征(MRKH综合征)
Orphanet J Rare Dis. 2007 Mar 14;2:13. doi: 10.1186/1750-1172-2-13.
10
Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.对一个庞大阿拉伯家族中伴有长骨缺陷的手足裂畸形进行全基因组连锁扫描,在染色体1q42.2 - q43和6q14.1上鉴定出两个新的易感基因座。
Am J Hum Genet. 2007 Jan;80(1):105-11. doi: 10.1086/510724. Epub 2006 Nov 29.