CFTR基因突变及其在男性不孕症中的作用:一个案例研究
Namrata Anjankar1, Akash More1, Ashish P Anjankar2
1Department of Clinical Embryology, School of Allied Health Sciences, Datta Meghe Institute of Higher Education and Research, Wardha, Maharashtra, India.
Journal of pharmacy & bioallied sciences
|June 13, 2025
概括
在没有囊性纤维化症状的情况下,F508del CFTR基因突变会导致男性不育,特别是阿佐精子,即使没有囊性纤维化症状. 早期遗传查对于管理男性不孕症和评估夫妇的生殖风险至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 生殖医学 生殖医学
- 医学案例研究 医学案例研究
背景情况:
- 囊性纤维化跨膜导电性调节器 (CFTR) 基因中的F508del突变是囊性纤维化最常见的原因.
- CFTR突变也与男性不孕症有关,特别是由于先天缺陷精管 (CAVD) 的阻塞性精子缺陷.
- 这种病例突出显示了一名男性患者患有亚精和F508del突变,但没有囊性纤维化症状.
研究的目的:
- 介绍一个32岁的男性患有亚精和F508del CFTR突变的案例研究.
- 讨论CFTR突变对男性生育能力和生殖健康的影响.
- 强调在面临不孕症的夫妇中进行遗传咨询和查的重要性.
主要方法:
- 对一名32岁的男性患者进行临床评估,该患者呈现出亚精子.
- 基因检测用于识别F508del CFTR基因突变.
- 对治疗不孕症的辅助生殖技术 (ART) 的审查.
主要成果:
- 这名患者被诊断为阻塞性亚精子和先天缺血 (CAVD) 由于F508del CFTR突变.
- 患者的伴侣表现出不充分的卵巢功能,需要生育解决方案.
- 辅助生殖方法,如TESE/PESA与ICSI被确定为潜在的生育解决方案.
结论:
- CFTR基因突变显著影响男性生育能力,导致诸如精症和CAVD等疾病,独立于囊性纤维化症状.
- 早期对CFTR突变的基因查对于诊断男性不孕症的原因至关重要,特别是在未知病因的情况下.
- 遗传咨询对夫妇至关重要,特别是当女性伴侣也携带遗传缺陷时,以评估生殖风险并指导治疗选择.
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