Primary ciliary dyskinesia as a rare cause of male infertility: case report and literature overview
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F24%3A00085319" target="_blank" >RIV/00023001:_____/24:00085319 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14310/24:00138462 RIV/00216208:11110/24:10489257 RIV/00064165:_____/24:10489257
Result on the web
<a href="https://bacandrology.biomedcentral.com/articles/10.1186/s12610-024-00244-z" target="_blank" >https://bacandrology.biomedcentral.com/articles/10.1186/s12610-024-00244-z</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1186/s12610-024-00244-z" target="_blank" >10.1186/s12610-024-00244-z</a>
Alternative languages
Result language
angličtina
Original language name
Primary ciliary dyskinesia as a rare cause of male infertility: case report and literature overview
Original language description
BackgroundPrimary 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 presentationWe present two cases of PCD as a rare cause of male infertility.ConclusionsPrimary 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 dyskin & eacute;sie ciliaire primitive (DPC) est une maladie g & eacute;n & eacute;tique rare caus & eacute;e par des mutations impactant des g & egrave;nes essentiels & agrave; la structure et/ou au fonctionnement du flagelle spermatique et des cils mobiles qui sont pr & eacute;sents & agrave; la surface de plusieurs types cellulaires. Outre l'infertilit & eacute; masculine, les ph & eacute;notypes typiques de cette pathologie sont la diminution de la clairance mucociliaire associ & eacute;e & agrave; des contextes r & eacute;currents d'otite, de rhinosinusite et de bronchite chronique pouvant conduire & agrave; une bronchectasie. De plus, comme les cils mobiles sont importants au cours du d & eacute;veloppement embryonnaire pour mettre en place la lat & eacute;ralisation des organes, 50 % des individus affect & eacute;s d & eacute;veloppent un situs inversus, aussi appel & eacute; syndrome de Kartagener.Nous pr & eacute;sentons deux cas de PCD comme cause rare d'infertilit & eacute; masculine pour lesquels nous avons identifi & eacute; des mutations g & eacute;n & eacute;tiques causales. Nous discutons le diagnostic de la PCD qui doit & ecirc;tre suspect & eacute;e chez les hommes infertiles ayant des valeurs de concentration de spermatozo & iuml;des sub-normales avec une motilit & eacute; nulle persistante ainsi que des ant & eacute;c & eacute;dents de sympt & ocirc;mes respiratoires. Malgr & eacute; l'identification de plus de 50 mutations causales, & agrave; ce jour, les m & eacute;canismes physiopathologiques de l'infertilit & eacute; masculine restent tr & egrave;s peu d & eacute;finis. Dans les situations d'infertilit & eacute; en contexte PCD, en plus de l'alt & eacute;ration de la mobilit & eacute; des spermatozo & iuml;des, des & eacute;l & eacute;ments de la litt & eacute;rature sugg & egrave;rent que d'autres d & eacute;fauts pourraient potentiellement alt & eacute;rer l'efficacit & eacute; des techniques de procr & eacute;ation. Ainsi, nous recommandons un bilan diagnostique incluant, entre autres, le test de fragmentation de l'ADN des spermatozo & iuml;des, afin de maximiser les chances d'efficacit & eacute; des techniques d'assistance & agrave; la procr & eacute;ation.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30220 - Andrology
Result continuities
Project
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Continuities
N - Vyzkumna aktivita podporovana z neverejnych zdroju
Others
Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Basic and clinical andrology
ISSN
2051-4190
e-ISSN
2051-4190
Volume of the periodical
34
Issue of the periodical within the volume
1
Country of publishing house
GB - UNITED KINGDOM
Number of pages
7
Pages from-to
"art. no. 27"
UT code for WoS article
001379766100001
EID of the result in the Scopus database
2-s2.0-85212420034