• 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

相似文献

1
Recent advances in managing and understanding Klinefelter syndrome.克氏综合征管理与认识的最新进展
F1000Res. 2019 Jan 28;8. doi: 10.12688/f1000research.16747.1. eCollection 2019.
2
New concepts in Klinefelter syndrome.克兰费尔特综合征的新概念。
Curr Opin Urol. 2008 Nov;18(6):621-7. doi: 10.1097/MOU.0b013e32831367c7.
3
The natural history of endocrine function and spermatogenesis in Klinefelter syndrome: what the data show.克氏综合征患者内分泌功能和生精过程的自然史:数据显示了什么。
Fertil Steril. 2012 Aug;98(2):266-73. doi: 10.1016/j.fertnstert.2012.06.024.
4
[Fertility in Klinefelter syndrome].[克兰费尔特综合征的生育能力]
Presse Med. 2014 Feb;43(2):162-70. doi: 10.1016/j.lpm.2013.12.002. Epub 2014 Jan 16.
5
Karyotype revealed 47, xxy chromosome (Klinefelter syndrome): a case report.核型分析显示47,XXY染色体(克兰费尔特综合征):一例报告。
Nepal Med Coll J. 2007 Sep;9(3):215-6.
6
Endocrine aspects of Klinefelter syndrome.克氏综合征的内分泌方面。
Curr Opin Endocrinol Diabetes Obes. 2019 Feb;26(1):60-65. doi: 10.1097/MED.0000000000000454.
7
The incidence of anxiety symptoms in boys with 47,XXY (Klinefelter syndrome) and the possible impact of timing of diagnosis and hormonal replacement therapy.47,XXY(克莱恩费尔特综合征)男孩中焦虑症状的发生率,以及诊断和激素替代疗法时机的可能影响。
Am J Med Genet A. 2019 Mar;179(3):423-428. doi: 10.1002/ajmg.a.61038. Epub 2019 Jan 13.
8
Klinefelter syndrome.克兰费尔特综合征
Arch Intern Med. 1998 Jun 22;158(12):1309-14. doi: 10.1001/archinte.158.12.1309.
9
The impact of prenatally diagnosed Klinefelter Syndrome on obstetric and neonatal outcomes.产前诊断的克兰费尔特综合征对产科和新生儿结局的影响。
Eur J Obstet Gynecol Reprod Biol. 2016 Aug;203:173-6. doi: 10.1016/j.ejogrb.2016.05.006. Epub 2016 Jun 9.
10
Unsuspected Klinefelter syndrome diagnosed during oncologic evaluation: a case series.肿瘤评估期间诊断出的未被怀疑的克兰费尔特综合征:病例系列
J Am Board Fam Pract. 2005 Mar-Apr;18(2):132-9. doi: 10.3122/jabfm.18.2.132.

引用本文的文献

1
Unraveling the genetic and pathophysiological mechanisms underlying disorders of sex development.揭示性发育障碍背后的遗传和病理生理机制。
Intractable Rare Dis Res. 2025 Aug 31;14(3):183-191. doi: 10.5582/irdr.2025.01015.
2
Perspectives From Adolescents and Young Adults With Klinefelter Syndrome on Testosterone Supplementation and Fertility.克兰费尔特综合征青少年及青年对睾酮补充治疗和生育能力的看法
J Endocr Soc. 2025 Jul 23;9(9):bvaf112. doi: 10.1210/jendso/bvaf112. eCollection 2025 Sep.
3
Prevalence, spermatozoa, hormonal, and genetic evaluation of rare mosaic klinefelter syndrome patients in southern China.中国南方罕见嵌合型克兰费尔特综合征患者的患病率、精子、激素及遗传学评估
Front Genet. 2025 Jun 10;16:1573292. doi: 10.3389/fgene.2025.1573292. eCollection 2025.
4
Finding acceptance: How adolescents and young adults with Klinefelter Syndrome navigate identity, disclosure, and support.寻求接纳:克氏综合征青少年及青年如何应对身份认同、信息披露与支持问题。
J Genet Couns. 2025 Jun;34(3):e70074. doi: 10.1002/jgc4.70074.
5
Update on Physical, Psychological, and Quality of Life Management in Klinefelter Syndrome.克兰费尔特综合征的身体、心理及生活质量管理最新进展
J Clin Endocrinol Metab. 2025 Jul 15;110(8):e2435-e2445. doi: 10.1210/clinem/dgaf261.
6
A scarce case: Co-occurrence of neurofibromatosis type 1 and Klinefelter syndrome.一个罕见病例:1型神经纤维瘤病与克兰费尔特综合征并存。
Glob Med Genet. 2024 Sep 30;12(1):100004. doi: 10.1016/j.gmg.2024.100004. eCollection 2025 Mar.
7
Exploring preferences and support needs for disclosing 47, XXY status: A qualitative study of adults with XXY.探索47, XXY核型状况披露的偏好和支持需求:一项针对XXY成年患者的定性研究
J Genet Couns. 2025 Jun;34(3):e1991. doi: 10.1002/jgc4.1991. Epub 2024 Nov 19.
8
A Man with Klinefelter's Syndrome having Normal Stature.一名身材正常的克兰费尔特综合征男性。
Indian J Endocrinol Metab. 2024 Jul-Aug;28(4):429-431. doi: 10.4103/ijem.ijem_33_23. Epub 2024 Aug 28.
9
Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review.为儿童、青少年和青年提供 X 和 Y 染色体三体诊断的循证建议:综合评价。
BMC Pediatr. 2024 Apr 22;24(1):263. doi: 10.1186/s12887-024-04723-0.
10
Communication of the diagnosis to Klinefelter subjects: an observational study on a key moment of the patient's life.向克氏综合征患者传达诊断结果:对患者生命中关键时刻的一项观察性研究。
J Endocrinol Invest. 2024 Aug;47(8):2029-2039. doi: 10.1007/s40618-024-02302-9. Epub 2024 Feb 20.

本文引用的文献

1
The Effect of PAI-1 Gene Variants and PAI-1 Plasma Levels on Development of Thrombophilia in Patients With Klinefelter Syndrome.PAI-1 基因变异和 PAI-1 血浆水平对 Klinefelter 综合征患者血栓形成倾向发展的影响。
Am J Mens Health. 2018 Nov;12(6):2152-2156. doi: 10.1177/1557988318801158.
2
Klinefelter syndrome in males with germ cell tumors: A report from the Children's Oncology Group.克兰费尔特综合征合并生殖细胞肿瘤男性患者:儿童肿瘤协作组研究报告。
Cancer. 2018 Oct 1;124(19):3900-3908. doi: 10.1002/cncr.31667. Epub 2018 Oct 6.
3
DNA hypermethylation and differential gene expression associated with Klinefelter syndrome.与克莱恩费尔特综合征相关的 DNA 高甲基化和差异基因表达。
Sci Rep. 2018 Sep 13;8(1):13740. doi: 10.1038/s41598-018-31780-0.
4
Is genetic fatherhood within reach for all azoospermic Klinefelter men?所有非梗阻性克氏综合征患者都能实现亲生父亲的梦想吗?
PLoS One. 2018 Jul 25;13(7):e0200300. doi: 10.1371/journal.pone.0200300. eCollection 2018.
5
Sex-chromosome dosage effects on gene expression in humans.性染色体剂量效应对人类基因表达的影响。
Proc Natl Acad Sci U S A. 2018 Jul 10;115(28):7398-7403. doi: 10.1073/pnas.1802889115. Epub 2018 Jun 26.
6
A history of undescended testes in young men with Klinefelter syndrome does not reduce the chances for successful microsurgical testicular sperm extraction.患有克莱恩费尔特综合征的年轻男性中隐睾症病史并不会降低成功进行微创睾丸精子提取的机会。
Andrology. 2018 Jul;6(4):525-531. doi: 10.1111/andr.12503. Epub 2018 Jun 21.
7
Fertility Preservation in Klinefelter Syndrome Patients during the Transition Period.克氏综合征患者过渡期的生育力保存
Endocr Dev. 2018;33:149-157. doi: 10.1159/000487531. Epub 2018 Jun 8.
8
Transcriptome analysis of the adult human Klinefelter testis and cellularity-matched controls reveals disturbed differentiation of Sertoli- and Leydig cells.人类成年 Klinefelter 睾丸转录组分析及与细胞计数匹配的对照研究显示 Sertoli 和 Leydig 细胞分化紊乱。
Cell Death Dis. 2018 May 22;9(6):586. doi: 10.1038/s41419-018-0671-1.
9
Long-term effect of testosterone replacement therapy on bone in hypogonadal men with Klinefelter Syndrome.克氏综合征性腺功能减退症男性患者睾酮替代治疗的长期疗效。
Endocrine. 2018 Aug;61(2):327-335. doi: 10.1007/s12020-018-1604-6. Epub 2018 Apr 25.
10
When does germ cell loss and fibrosis occur in patients with Klinefelter syndrome?克氏综合征患者的生殖细胞丢失和纤维化何时发生?
Hum Reprod. 2018 Jun 1;33(6):1009-1022. doi: 10.1093/humrep/dey094.

克氏综合征管理与认识的最新进展

Recent advances in managing and understanding Klinefelter syndrome.

作者信息

Bearelly Priyanka, Oates Robert

机构信息

Urology, Boston University School of Medicine, 725 Albany Street, Suite 3B, Boston, MA, 02118, USA.

出版信息

F1000Res. 2019 Jan 28;8. doi: 10.12688/f1000research.16747.1. eCollection 2019.

DOI:10.12688/f1000research.16747.1
PMID:30755791
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6352920/
Abstract

Klinefelter syndrome can present as a wide spectrum of clinical manifestations at various stages in life, making it a chromosomal disorder with no standardized set of guidelines for appropriate management. Understanding the genetic and hormonal causes of this syndrome can allow physicians to treat each patient on a more individualized basis. The timing of diagnosis and degree of symptoms can guide management. This report will provide an updated review of the clinical presentation at various stages in life and the implications for management.

摘要

克兰费尔特综合征在人生的各个阶段可呈现出广泛的临床表现,使其成为一种缺乏标准化规范管理指南的染色体疾病。了解该综合征的遗传和激素病因可让医生更个体化地治疗每位患者。诊断时机和症状程度可指导管理。本报告将对人生各阶段的临床表现及管理意义提供最新综述。