Suppr超能文献

囊性纤维化与男性不育:从遗传学到辅助生殖技术的未来展望

Cystic Fibrosis and Male Infertility: From Genetics to Future Perspectives in Assisted Reproductive Technologies.

作者信息

Kaltsas Aris

机构信息

Third Department of Urology, Attikon University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece.

出版信息

Genes (Basel). 2025 Aug 25;16(9):994. doi: 10.3390/genes16090994.

Abstract

: Male infertility is a prevalent and often underrecognized manifestation of cystic fibrosis (CF), primarily caused by congenital bilateral absence of the vas deferens (CBAVD) due to CFTR gene mutations. With improved life expectancy in CF patients, reproductive counseling and fertility management have gained clinical relevance. : This narrative review synthesizes current evidence on the genetic underpinnings, diagnostic evaluation, and reproductive management of male infertility in CF and CFTR-related disorders. It also highlights recent advances in assisted reproductive technologies (ART), the role of CFTR modulators, and emerging molecular research. : Most men with CF or CBAVD have intact spermatogenesis but present with obstructive azoospermia. Diagnosis relies on clinical examination, semen analysis, genetic testing, and imaging. Sperm retrieval combined with in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) achieves high success rates. Genetic counseling is essential to assess reproductive risks and guide partner screening. New therapies-particularly CFTR modulators-have improved systemic health and fertility potential. Future directions include gene therapy, microfluidics-based sperm selection, and personalized molecular strategies. : Male infertility in CF represents a treatable consequence of a systemic disease. Advances in reproductive medicine and precision genetics now offer affected men viable paths to biological parenthood while also emphasizing the broader health implications of male infertility.

摘要

男性不育是囊性纤维化(CF)的一种常见且常被忽视的表现,主要由CFTR基因突变导致先天性双侧输精管缺如(CBAVD)引起。随着CF患者预期寿命的延长,生殖咨询和生育管理已具有临床相关性。 本叙述性综述综合了关于CF及CFTR相关疾病中男性不育的遗传基础、诊断评估和生殖管理的现有证据。它还强调了辅助生殖技术(ART)的最新进展、CFTR调节剂的作用以及新兴的分子研究。 大多数患有CF或CBAVD的男性精子发生正常,但表现为梗阻性无精子症。诊断依赖于临床检查、精液分析、基因检测和影像学检查。精子采集结合体外受精(IVF)和卵胞浆内单精子注射(ICSI)成功率很高。遗传咨询对于评估生殖风险和指导伴侣筛查至关重要。新的治疗方法,特别是CFTR调节剂,改善了全身健康状况和生育潜力。未来的方向包括基因治疗、基于微流体的精子选择和个性化分子策略。 CF中的男性不育是一种全身性疾病的可治疗后果。生殖医学和精准遗传学的进展现在为受影响的男性提供了实现亲生父母身份的可行途径,同时也强调了男性不育对更广泛健康的影响。

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