BACKGROUND: 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. CASE PRESENTATION: We present two cases of PCD as a rare cause of male infertility. CONCLUSIONS: 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.

La dyskinésie ciliaire primitive (DPC) est une maladie génétique rare causée par des mutations impactant des gènes essentiels à la structure et/ou au fonctionnement du flagelle spermatique et des cils mobiles qui sont présents à la surface de plusieurs types cellulaires. Outre l'infertilité masculine, les phénotypes typiques de cette pathologie sont la diminution de la clairance mucociliaire associée à des contextes récurrents d’otite, de rhinosinusite et de bronchite chronique pouvant conduire à une bronchectasie. De plus, comme les cils mobiles sont importants au cours du développement embryonnaire pour mettre en place la latéralisation des organes, 50 % des individus affectés développent un situs inversus, aussi appelé syndrome de Kartagener.Nous présentons deux cas de PCD comme cause rare d'infertilité masculine pour lesquels nous avons identifié des mutations génétiques causales. Nous discutons le diagnostic de la PCD qui doit être suspectée chez les hommes infertiles ayant des valeurs de concentration de spermatozoïdes sub-normales avec une motilité nulle persistante ainsi que des antécédents de symptômes respiratoires. Malgré l’identification de plus de 50 mutations causales, à ce jour, les mécanismes physiopathologiques de l'infertilité masculine restent très peu définis. Dans les situations d’infertilité en contexte PCD, en plus de l’altération de la mobilité des spermatozoïdes, des éléments de la littérature suggèrent que d’autres défauts pourraient potentiellement altérer l’efficacité des techniques de procréation. Ainsi, nous recommandons un bilan diagnostique incluant, entre autres, le test de fragmentation de l’ADN des spermatozoïdes, afin de maximiser les chances d’efficacité des techniques d’assistance à la procréation.

Clinical Genetics IVF Clinic GENNET Prague Czech Republic

Department of Urology General University Hospital and 1st Faculty of Medicine Charles University Prague Czech Republic

Laboratory of Immunology IVF Clinic GENNET Prague Czech Republic

RECETOX Faculty of Science Masaryk University Brno Czech Republic

Transplantation Surgery Department Institute for Clinical and Experimental Medicine Prague Czech Republic

Urology and Andrology IVF Clinic GENNET Prague Czech Republic

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