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青少年原发性闭经的罕见病因:一例报告

A Rare Cause of Primary Amenorrhea in Adolescence: A Case Report.

作者信息

Rodrigues Alexandra, Torres Lara, Salgueiro Rita, González Isabel, Oliveira Rita S

机构信息

Department of Pediatrics, Unidade Local de Saude da Guarda, Guarda, PRT.

出版信息

Cureus. 2025 Aug 10;17(8):e89760. doi: 10.7759/cureus.89760. eCollection 2025 Aug.

DOI:10.7759/cureus.89760
PMID:40937261
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12421077/
Abstract

Primary amenorrhea is the absence of menses at age 15 with secondary sexual characteristics or at age 13 without any secondary sexual characteristics. Evaluation for primary amenorrhea should also be considered when menarche has not occurred within three years of thelarche, or five years after thelarche if it began before the age of 10. We report a rare case of a 15-year-old adolescent with primary amenorrhea who was diagnosed with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. The diagnosis was established through magnetic resonance imaging. The patient is currently undergoing multidisciplinary follow-up, including psychological support. At present, the use of vaginal dilators or surgical intervention is being considered as the most appropriate therapeutic approach.

摘要

原发性闭经是指15岁有第二性征但无月经初潮,或13岁无任何第二性征。如果乳房发育后3年内仍未出现月经初潮,或乳房发育始于10岁之前,那么乳房发育后5年仍未出现月经初潮时,也应考虑对原发性闭经进行评估。我们报告一例罕见的15岁原发性闭经青少年病例,该患者被诊断为 Mayer-Rokitansky-Küster-Hauser(MRKH)综合征。诊断通过磁共振成像确定。患者目前正在接受多学科随访,包括心理支持。目前,使用阴道扩张器或手术干预被认为是最合适的治疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3051/12421077/11e7002ab3e8/cureus-0017-00000089760-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3051/12421077/a74c920e23fe/cureus-0017-00000089760-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3051/12421077/11e7002ab3e8/cureus-0017-00000089760-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3051/12421077/a74c920e23fe/cureus-0017-00000089760-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3051/12421077/11e7002ab3e8/cureus-0017-00000089760-i02.jpg

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本文引用的文献

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Arch Gynecol Obstet. 2024 Nov 13. doi: 10.1007/s00404-024-07830-6.
2
Update on Mayer-Rokitansky-Küster-Hauser syndrome.梅-罗二氏综合征最新进展。
Front Med. 2022 Dec;16(6):859-872. doi: 10.1007/s11684-022-0969-3. Epub 2022 Dec 23.
3
MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of primary amenorrhea and female delayed puberty.内分泌疾病管理:原发性闭经和女性青春期延迟的诊断和治疗。
Eur J Endocrinol. 2021 May 4;184(6):R225-R242. doi: 10.1530/EJE-20-1487.
4
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update. Mayer-Rokitansky-Küster-Hauser(MRKH)综合征:全面更新。
Orphanet J Rare Dis. 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9.
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Amenorrhea: A Systematic Approach to Diagnosis and Management.闭经:诊断与管理的系统方法。
Am Fam Physician. 2019 Jul 1;100(1):39-48.
6
Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.迈耶-罗基坦斯基-库斯特-豪泽综合征(MRKH)的遗传学
Clin Genet. 2017 Feb;91(2):233-246. doi: 10.1111/cge.12883. Epub 2016 Nov 16.
7
Mayer-Rokitansky-Küster-Hauser syndrome.梅耶-罗基坦斯基-库斯特-豪泽综合征
BMJ Case Rep. 2015 May 15;2015:bcr2015210187. doi: 10.1136/bcr-2015-210187.