• 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

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。

Discordance in Mayer-von Rokitansky-Küster-Hauser Syndrome noted in monozygotic twins.

作者信息

Duru Ugonna A, Laufer Marc R

机构信息

Division of Gynecology, Department of Surgery, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA.

出版信息

J Pediatr Adolesc Gynecol. 2009 Aug;22(4):e73-5. doi: 10.1016/j.jpag.2008.07.012.

DOI:10.1016/j.jpag.2008.07.012
PMID:19646663
Abstract

BACKGROUND

We report a case of monochorionic, monoamniotic female twins with discordant congenital reproductive tract anomalies.

CASE

We present the case of a 17-year-old monochorionic-monoamniotic female twin with Mayer-von Rokitansky-Küster-Hauser Syndrome (MRKH) and her twin sister, who had with normal female reproductive system. Monozygosity is investigated by the complete history, physical, and imaging data, antenatal and birth reports of both the patient and her monozygotic twin sister. Examination of these documents proves monozygosity of the sisters, and imaging studies demonstrate MRKH in one twin and normal female genitalia in the other.

SUMMARY AND CONCLUSION

This case is presented as proof of MRKH discordance in monozygotic twins.

摘要

背景

我们报告一例单绒毛膜、单羊膜囊女性双胞胎,其先天性生殖道异常情况不一致。

病例

我们介绍了一名17岁的单绒毛膜 - 单羊膜囊女性双胞胎,其中一个患有迈耶 - 罗基坦斯基 - 库斯特 - 豪泽综合征(MRKH),而她的双胞胎姐妹具有正常的女性生殖系统。通过患者及其单卵双胞胎姐妹的完整病史、体格检查、影像学资料、产前和出生报告来调查单合子性。对这些文件的检查证实了姐妹俩的单合子性,影像学研究显示其中一个双胞胎患有MRKH,另一个具有正常的女性生殖器。

总结与结论

本病例作为单卵双胞胎中MRKH不一致的证据呈现。

相似文献

1
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.
2
Discordant Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in identical twins - a case report and implications for reproduction in MRKH women.同卵双胞胎中的不一致性迈耶-罗基坦斯基-库斯特-豪泽综合征(MRKH)——一例报告及对MRKH综合征女性生育的影响
Gynecol Endocrinol. 2015;31(9):684-7. doi: 10.3109/09513590.2015.1032928. Epub 2015 Aug 17.
3
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.
4
[Disordant monozygotic twins with Mayer Rokitansky Kütser syndrome (author's transl)].
Geburtshilfe Frauenheilkd. 1977 Mar;37(3):221-3.
5
Higher incidence of linked malformations in siblings of Mayer-Rokitansky-Küster-Hauser-syndrome patients.迈耶-罗基坦斯基-库斯特-豪泽综合征患者兄弟姐妹中相关畸形的发生率更高。
Hum Reprod. 2008 May;23(5):1226-31. doi: 10.1093/humrep/den059. Epub 2008 Mar 5.
6
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome without and with associated features: two separate entities?无相关特征及有相关特征的迈耶-罗基坦斯基-库斯特-豪泽综合征(MRKH):两种不同的实体?
Clin Dysmorphol. 1994 Jul;3(3):192-9.
7
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.
8
Mayer-Rokitansky-Küster-Hauser syndrome: distinction between two forms based on excretory urographic, sonographic, and laparoscopic findings.梅耶-罗基坦斯基-库斯特-豪泽综合征:基于排泄性尿路造影、超声及腹腔镜检查结果对两种类型的鉴别
AJR Am J Roentgenol. 1993 Feb;160(2):331-4. doi: 10.2214/ajr.160.2.8424345.
9
Laparoscopy for pelvic pain in the Mayer-Rokitansky-Kuster-Hauser syndrome. A case report.腹腔镜检查用于 Mayer-Rokitansky-Kuster-Hauser 综合征盆腔疼痛:一例报告
J Reprod Med. 1998 Mar;43(3):203-5.
10
Mayer-Rokitansky-Küster-Hauser Syndrome with Situs Inversus Totalis: A Rare Case Report.梅耶-罗基坦斯基-库斯特-豪泽综合征伴全内脏转位:一例罕见病例报告。
Am J Case Rep. 2023 Feb 11;24:e939011. doi: 10.12659/AJCR.939011.

引用本文的文献

1
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.
2
46,XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility outcomes.46,XX 性发育差异症(非先天性肾上腺皮质增生症):发病机制、临床方面、青春期、性激素替代疗法和生育结局。
Front Endocrinol (Lausanne). 2024 May 22;15:1402579. doi: 10.3389/fendo.2024.1402579. eCollection 2024.
3
Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.
迈耶-罗基坦斯基-库斯特-豪泽综合征(MRKH)的遗传学:进展与影响
Front Endocrinol (Lausanne). 2024 Apr 18;15:1368990. doi: 10.3389/fendo.2024.1368990. eCollection 2024.
4
A Cohort of 469 Mayer-Rokitansky-Küster-Hauser Syndrome Patients-Associated Malformations, Syndromes, and Heterogeneity of the Phenotype.469例迈耶-罗基坦斯基-库斯特-豪泽综合征患者队列——相关畸形、综合征及表型异质性
J Clin Med. 2024 Jan 21;13(2):607. doi: 10.3390/jcm13020607.
5
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.
6
Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome.功能基因组学分析确定 HNF1B 功能丧失是 Mayer-Rokitansky-Küster-Hauser 综合征的原因。
Hum Mol Genet. 2023 Mar 6;32(6):1032-1047. doi: 10.1093/hmg/ddac262.
7
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.
8
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.
9
Options for acquiring motherhood in absolute uterine factor infertility; adoption, surrogacy and uterine transplantation.在绝对子宫因素不孕症中获得母亲身份的选择;领养、代孕和子宫移植。
Obstet Gynaecol. 2021 Apr;23(2):138-147. doi: 10.1111/tog.12729. Epub 2021 Mar 19.
10
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.