Novák Jan, Horáková Lenka, Puchmajerová Alena, Vik Viktor, Krátká Zuzana, Thon Vojtěch
Department of Urology, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic.
Urology and Andrology, IVF Clinic GENNET, Prague, Czech Republic.
Basic Clin Androl. 2024 Dec 18;34(1):27. doi: 10.1186/s12610-024-00244-z.
Primary ciliary dyskinesia (PCD) is a heterogenous disease caused by mutations of miscellaneous genes which physiologically play an important role in proper structure and/or function of various cellular cilia including sperm flagella. Besides male infertility, the typical phenotypes, based on decreased mucociliary clearance, are lifelong respiratory issues, i.e., chronic bronchitis leading to bronchiectasis, chronic rhinosinusitis, and chronic otitis media. Moreover, since motile cilia are important during embryological development in the sense of direction of gut rotation, 50% of affected individuals develop situs inversus - so-called Kartagener's syndrome.
We present two cases of PCD as a rare cause of male infertility.
Primary ciliary dyskinesia should be suspected in infertile males having (sub)normal sperm concentration values with persistent zero motility together with patient's and/or family history of respiratory symptoms like bronchiectasis, chronic cough, rhinitis, recurrent sinusitis, and otitis media. Due to more than 50 identified mutations until now, the causal mechanism of male infertility is miscellaneous and not in all cases known in detail. Besides impaired sperm motility, other mechanisms significantly decreasing efficacy of assisted reproduction techniques play a pivotal role. Thus, proper diagnostic work-up including, among others, sperm DNA fragmentation, is mandatory to avoid ineffective treatment burden.
原发性纤毛运动障碍（PCD）是一种由多种基因突变引起的异质性疾病，这些基因在包括精子鞭毛在内的各种细胞纤毛的正常结构和/或功能中发挥着重要生理作用。除男性不育外，基于黏液纤毛清除功能下降的典型表型是终身呼吸问题，即导致支气管扩张的慢性支气管炎、慢性鼻窦炎和慢性中耳炎。此外，由于运动性纤毛在肠道旋转方向的胚胎发育过程中很重要，50%的受影响个体出现内脏反位，即所谓的卡塔格内综合征。
我们报告两例原发性纤毛运动障碍作为男性不育罕见原因的病例。
对于精子浓度值（亚）正常但持续零活力且有支气管扩张、慢性咳嗽、鼻炎、复发性鼻窦炎和中耳炎等呼吸道症状的患者个人史和/或家族史的不育男性，应怀疑原发性纤毛运动障碍。由于目前已确定超过50种突变，男性不育的病因机制多种多样，并非在所有情况下都详细清楚。除了精子活力受损外，其他显著降低辅助生殖技术疗效的机制也起着关键作用。因此，包括精子DNA碎片分析等在内的适当诊断检查是必要的，以避免无效的治疗负担。
