Primary ciliary dyskinesia as a rare cause of male infertility:
case report and literature overview

J 2024

Primary ciliary dyskinesia as a rare cause of male infertility: case report and literature overview

NOVAK, Jan; Lenka HORAKOVA; Alena PUCHMAJEROVA; Viktor VIK; Zuzana KRATKA et al.

Základní údaje

Originální název

Primary ciliary dyskinesia as a rare cause of male infertility: case report and literature overview

Autoři

NOVAK, Jan; Lenka HORAKOVA; Alena PUCHMAJEROVA; Viktor VIK; Zuzana KRATKA a Vojtěch THON

Vydání

BASIC AND CLINICAL ANDROLOGY, ENGLAND, BMC, 2024, 2051-4190

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30220 Andrology

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 2.000

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14310/24:00138462

Organizační jednotka

Přírodovědecká fakulta

Klíčová slova anglicky

Primary ciliary dyskinesia; Kartagener's syndrome; Immotile sperm; Infertility; Dyskin & eacute;sie ciliaire primitive (DCP); Syndrome de Kartagener; Spermatozo & iuml;des immobiles; Infertilit & eacute;

Štítky

143180, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 14. 1. 2025 11:40, Mgr. Michaela Hylsová, Ph.D.

Anotace

V originále

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.

Citovat

NOVAK, Jan; Lenka HORAKOVA; Alena PUCHMAJEROVA; Viktor VIK; Zuzana KRATKA a Vojtěch THON. Primary ciliary dyskinesia as a rare cause of male infertility: case report and literature overview. BASIC AND CLINICAL ANDROLOGY. ENGLAND: BMC, 2024, roč. 34, č. 1, s. 1-7. ISSN 2051-4190. Dostupné z: https://doi.org/10.1186/s12610-024-00244-z.

@article{2467906,
   author = {Novak, Jan and Horakova, Lenka and Puchmajerova, Alena and Vik, Viktor and Kratka, Zuzana and Thon, Vojtěch},
   article_location = {ENGLAND},
   article_number = {1},
   doi = {https://doi.org/10.1186/s12610-024-00244-z},
   keywords = {Primary ciliary dyskinesia; Kartagener's syndrome; Immotile sperm; Infertility; Dyskin & eacute;sie ciliaire primitive (DCP); Syndrome de Kartagener; Spermatozo & iuml;des immobiles; Infertilit & eacute;},
   language = {eng},
   issn = {2051-4190},
   journal = {BASIC AND CLINICAL ANDROLOGY},
   title = {Primary ciliary dyskinesia as a rare cause of male infertility: case report and literature overview},
   url = {https://bacandrology.biomedcentral.com/articles/10.1186/s12610-024-00244-z},
   volume = {34},
   year = {2024}
}

TY  - JOUR
ID  - 2467906
AU  - Novak, Jan - Horakova, Lenka - Puchmajerova, Alena - Vik, Viktor - Kratka, Zuzana - Thon, Vojtěch
PY  - 2024
TI  - Primary ciliary dyskinesia as a rare cause of male infertility: case report and literature overview
JF  - BASIC AND CLINICAL ANDROLOGY
VL  - 34
IS  - 1
SP  - 1-7
EP  - 1-7
PB  - BMC
SN  - 20514190
KW  - Primary ciliary dyskinesia
KW  - Kartagener's syndrome
KW  - Immotile sperm
KW  - Infertility
KW  - Dyskin &
KW  - eacute;sie ciliaire primitive (DCP)
KW  - Syndrome de Kartagener
KW  - Spermatozo &
KW  - iuml;des immobiles
KW  - Infertilit &
KW  - eacute;
UR  - https://bacandrology.biomedcentral.com/articles/10.1186/s12610-024-00244-z
N2  - 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.
ER  -

NOVAK, Jan; Lenka HORAKOVA; Alena PUCHMAJEROVA; Viktor VIK; Zuzana KRATKA a Vojtěch THON. Primary ciliary dyskinesia as a rare cause of male infertility: case report and literature overview. \textit{BASIC AND CLINICAL ANDROLOGY}. ENGLAND: BMC, 2024, roč.~34, č.~1, s.~1-7. ISSN~2051-4190. Dostupné z: https://doi.org/10.1186/s12610-024-00244-z.

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