性早熟是Mayer-Rokitansky-Kuster-Hauser综合征的一种不寻常的表现:一例报告

IF 1.3 Q2 MEDICINE, GENERAL & INTERNAL Saudi Journal of Medicine & Medical Sciences Pub Date : 2023-06-16 DOI:10.36348/sjm.2023.v08i06.007
Kaoutar Rifai, Lamya Echchad, Nawal Moussaid, H. Iraqi, M. Gharbi
{"title":"性早熟是Mayer-Rokitansky-Kuster-Hauser综合征的一种不寻常的表现:一例报告","authors":"Kaoutar Rifai, Lamya Echchad, Nawal Moussaid, H. Iraqi, M. Gharbi","doi":"10.36348/sjm.2023.v08i06.007","DOIUrl":null,"url":null,"abstract":"Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder that affects the female reproductive system, resulting in uterovaginal agenesis. It’s typically presented as primary amenorrhoea in adolescence in female with normal development of secondary sexual characteristics and 46, XX karyotype. In this article, we report an unusual case of MRKHS of a girl of 7 years old who consulted for premature thelarche & pubarche. She has a normal karyotype (46, XX) with normal external genetalia. Gonadotropin releasing hormone (GnRH) stimulation test revealed a peak LH level of 1.77 UI/l and peak FSH level of 5.44 UI/l. Imaging disclosed advanced bone age at 10 years. Pelvic MRI showed uterine hypoplasia with partial vaginal agenesis.","PeriodicalId":21442,"journal":{"name":"Saudi Journal of Medicine & Medical Sciences","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2023-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Precocious Puberty as an Unusual Presentation in Mayer-Rokitansky-Kuster-Hauser Syndrome: A Case Report\",\"authors\":\"Kaoutar Rifai, Lamya Echchad, Nawal Moussaid, H. Iraqi, M. Gharbi\",\"doi\":\"10.36348/sjm.2023.v08i06.007\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder that affects the female reproductive system, resulting in uterovaginal agenesis. It’s typically presented as primary amenorrhoea in adolescence in female with normal development of secondary sexual characteristics and 46, XX karyotype. In this article, we report an unusual case of MRKHS of a girl of 7 years old who consulted for premature thelarche & pubarche. She has a normal karyotype (46, XX) with normal external genetalia. Gonadotropin releasing hormone (GnRH) stimulation test revealed a peak LH level of 1.77 UI/l and peak FSH level of 5.44 UI/l. Imaging disclosed advanced bone age at 10 years. Pelvic MRI showed uterine hypoplasia with partial vaginal agenesis.\",\"PeriodicalId\":21442,\"journal\":{\"name\":\"Saudi Journal of Medicine & Medical Sciences\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2023-06-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Saudi Journal of Medicine & Medical Sciences\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.36348/sjm.2023.v08i06.007\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Saudi Journal of Medicine & Medical Sciences","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.36348/sjm.2023.v08i06.007","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0

摘要

MRKH综合征是一种罕见的先天性疾病,影响女性生殖系统,导致子宫阴道发育不全。典型表现为青春期女性原发性闭经,第二性征发育正常,核型为46,xx。在这篇文章中,我们报告了一个不寻常的病例MRKHS 7岁的女孩谁咨询过早分娩和出版。她有一个正常的核型(46,XX),正常的外部遗传。促性腺激素释放激素(GnRH)刺激试验显示LH峰值为1.77 UI/l, FSH峰值为5.44 UI/l。影像学显示10岁时骨龄提前。盆腔MRI显示子宫发育不全伴部分阴道发育不全。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Precocious Puberty as an Unusual Presentation in Mayer-Rokitansky-Kuster-Hauser Syndrome: A Case Report
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder that affects the female reproductive system, resulting in uterovaginal agenesis. It’s typically presented as primary amenorrhoea in adolescence in female with normal development of secondary sexual characteristics and 46, XX karyotype. In this article, we report an unusual case of MRKHS of a girl of 7 years old who consulted for premature thelarche & pubarche. She has a normal karyotype (46, XX) with normal external genetalia. Gonadotropin releasing hormone (GnRH) stimulation test revealed a peak LH level of 1.77 UI/l and peak FSH level of 5.44 UI/l. Imaging disclosed advanced bone age at 10 years. Pelvic MRI showed uterine hypoplasia with partial vaginal agenesis.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Saudi Journal of Medicine & Medical Sciences
Saudi Journal of Medicine & Medical Sciences MEDICINE, GENERAL & INTERNAL-
CiteScore
1.40
自引率
0.00%
发文量
52
审稿时长
15 weeks
期刊介绍: Saudi Journal of Medicine & Medical Sciences (SJMMS) is the official scientific journal of Imam Abdulrahman Bin Faisal University. It is an international peer-reviewed, general medical journal. The scope of the Journal is to publish research that will be of interest to health specialties both in academic and clinical practice. The Journal aims at disseminating high-powered research results with the objective of turning research into knowledge. It seeks to promote scholarly publishing in medicine and medical sciences. The Journal is published in print and online. The target readers of the Journal include all medical and health professionals in the health cluster such as in medicine, dentistry, nursing, applied medical sciences, clinical pharmacology, public health, etc.
期刊最新文献
Correlation between Illness Perception and Medication Adherence among Adult Patients with Type 2 Diabetes Mellitus in Saudi Arabia. Development and Validation of the Saudi Telehealth Acceptance Scale Based on the Unified Theory of Acceptance and Use of Technology. Effectiveness of Audiovisual Distraction in Reducing Children's Anxiety for Pain During Medical and Dental Treatments: A Systematic Review and Meta-analysis. Enhancing the Central Venous Catheterization Competency of Medical Students through a Specialized Team and an Interactive Response System: A pre-post study. Frequency and Determinants of Depression in Hypothyroidism Patients at a Tertiary Care Hospital in the Western Region of Saudi Arabia.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1