Klinefelter综合征的研究进展  

Research progress on Klinefelter syndrome

作　　者：蒋沁睿 全松[1] Jiang Qinrui;Quan Song(Center for Reproductive Medicine,Department of Gynaecology and Obstetrics,Nanfang Hospital,Southern Medical University,Guangzhou 510515,China)

机构地区：[1]南方医科大学南方医院妇产科生殖医学中心,广州510515

出　　处：《中华生殖与避孕杂志》2024年第4期432-435,共4页Chinese Journal of Reproduction and Contraception

摘　　要：Klinefelter综合征(Klinefelter syndrome,KS)是X染色体数目异常性疾病,可导致精子生成障碍、生殖细胞丢失,引起男性不育和生长发育异常。KS患者多余染色体造成的基因表达异常和睾丸微环境异常与生精障碍、生殖细胞丢失密切相关,其发病机制尚未阐明。精子冷冻、显微取精术、卵胞质内单精子注射等技术为KS患者生育力保存和生育提供了技术手段,尤其是人造配子技术可能成为KS不育的新疗法,但该技术尚未完全成熟,仍存在安全性和伦理问题。本文对KS的研究进展作一综述,为其诊治提供新的思路。Klinefelter syndrome(KS)is a sex chromosome abnormal disease that can lead to spermatogenesis disorders,germ cell loss,male infertility and growth and developmental abnormalities.The abnormal gene expression and testicular microenvironment caused by the extra chromosome in KS patients are closely related to spermatogenesis disorders and germ cell loss,and the pathogenesis has not yet been elucidated.There are several technologies available that can provide technical means for fertility preservation and reproduction in KS patients,including sperm cryopreservation,microdissection testicular sperm extraction,and intracytoplasmic sperm injection,among which artificial gamete technology shows promise as a potential new treatment for KS infertility.Nevertheless,this technology is not yet fully mature and there are still safety and ethical issues.This article provides a comprehensive review of the research progress on KS,offering new insights for its diagnosis and treatment.

关 键 词：KLINEFELTER综合征 染色体异常 生育力保存 生殖细胞丢失 睾丸微环境异常 

分 类 号：R596.1[医药卫生—内科学]