Management of primary ciliary dyskinesia/Kartagener′s syndrome in infertile male patients and current progress in defining the underlying genetic mechanism
Open accessAbstract
Kartagener's syndrome (KS) is an autosomal recessive genetic disease accounting for approximately 50% of the cases of primary ciliary dyskinesia (PCD). As it is accompanied by many complications, PCD/KS severely affects the patient's quality of life. Therapeutic approaches for PCD/KS aim to enhance prevention, facilitate rapid definitive diagnosis, avoid misdiagnosis, maintain active treatment, control infection and postpone the development of lesions. In male patients, sperm flagella may show impairment in or complete absence of the ability to swing, which ultimately results in male infertility. Assisted reproductive technology will certainly benefit such patients. For PCD/KS patients with completely immotile sperm, intracytoplasmic sperm injection may be very important and even indispensable. Considering the number of PCD/KS susceptibility genes and mutations that are being identified, more extensive genetic screening is indispensable in patients with these diseases. Moreover, further studies into the potential molecular mechanisms of these diseases are required. In this review, we summarize the available information on various aspects of this disease in order to delineate the therapeutic objectives more clearly, and clarify the efficacy of assisted reproductive technology as a means of treatment for patients with PCD/KS-associated infertility.
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Patients with Kartegener syndrome have immotile cilia syndrome due to abnormal morphology and function of the sperm tail.
“Patients with Kartegener syndrome have immotile cilia syndrome, due to abnormal morphology and function of the sperm tail (66).”
From Isolated teratozoospermia: revisiting its relevance in male infertility: a narrative review (2024) · cites this paper as [66]
The Introduction identifies Kartagener’s syndrome as a form of primary ciliary dyskinesia involving abnormal ciliary function in several parts of the body. The Incidence and Clinical Manifestations section says abnormal sperm-flagellar structure may impair movement and cause male infertility; it does not say sperm-tail abnormalities cause the syndrome itself. Page numbers are unavailable in our copy. (LLM, conf=0.87)
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BackgroundWhole exome sequencing in recurrent early pregnancy loss
Qiao, Y., Wen, J., Tang, F., Martell, S., Shomer, N., Leung, P. C. K., Stephenson, M. D., & Rajcan‐Separovic, E. (2016) · Molecular Human Reproduction · doi:10.1093/molehr/gaw008 · Cited by 97 · see citing works
“The enrichment of genes with putatively pathogenic variants from miscarriage and couples genes in ciliary motility disorders, known to be of relevance to fertility (Sha et al., 2014) and early embryonic development (Quinlan et al.”
BackgroundThe impact of primary ciliary dyskinesia on female and male fertility: a narrative review
Newman, L. M., Chopra, J., Dossett, C., Shepherd, E., Bercusson, A., Carroll, M., Walker, W. T., Lucas, J. S., & Cheong, Y. C. (2023) · Human Reproduction Update · doi:10.1093/humupd/dmad003 · Cited by 86 · see citing works
“The majority of cases of ART treatment in males with PCD utilized ICSI, which is likely preferred as immotile sperm can be used (Sha et al. , 2014).”
Microtubular Dysfunction and Male Infertility
Gunes, S. O., Sengupta, P., Henkel, R., Alguraigari, A., Sinigaglia, M. M., Kayal, M., Joumah, A., & Agarwal, A. K. (2018) · The World Journal of Men s Health · doi:10.5534/wjmh.180066 · Cited by 68 · see citing works
“Any alteration in the axoneme ultrastructure may cause abnormalities in the sperm tail and change its morphology, causing severe motility disorders [30].”
BackgroundBiallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype
Sha, Y., Wei, X., Ding, L., Ji, Z., Mei, L., Huang, X., Su, Z., Wang, W., Zhang, X., & Lin, S. (2020) · Journal of Human Genetics · doi:10.1038/s10038-020-0790-2 · Cited by 58 · see citing works
Self-citationCCDC38 is required for sperm flagellum biogenesis and male fertility in mice
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Where are we going with gene screening for male infertility?
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“This is caused by the dynein arm defect in the sperm tail [73].”
BackgroundAssessment of ciliary phenotype in primary ciliary dyskinesia by micro-optical coherence tomography
Solomon, G. M., Francis, R. J. B., Chu, K. K., Birket, S. E., Gabriel, G. C., Trombley, J. E., Lemke, K., Klena, N., Turner, B., Tearney, G. J., et al. (2017) · JCI Insight · doi:10.1172/jci.insight.91702 · Cited by 41 · see citing works
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George, K., Mascarenhas, M., Thomas, S. V., Kamath, M., Ramalingam, R., Kongari, A., Yuvarani, S., & Srivastava, V. (2016) · Journal of Human Reproductive Sciences · doi:10.4103/0974-1208.192065 · Cited by 27 · see citing works
“187 © 2016 Journal of Human Reproductive Sciences | Published by Wolters Kluwer - Medknow deferens associated with cystic fibrosis, and the ciliary dyskinesia syndromes/ Kartagener syndrome.[4-7] Among these, Klinefelter syndrome (KS) due to gain of an X chromosome (47,XXY) is the leading cause followed by Y chromosom…”
BackgroundCanary in the Coal Mine? Male Infertility as a Marker of Overall Health
Punjani, N., & Lamb, D. J. (2020) · Annual Review of Genetics · doi:10.1146/annurev-genet-022020-023434 · Cited by 25 · see citing works
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Genetic Basis of Male and Female Infertility
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Isolated teratozoospermia: revisiting its relevance in male infertility: a narrative review
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“Even though, PCD covers all congenital ciliary dysfunctions, the term Kartagener’s syndrome (KS) is used for describing the syndrome accompanied by situs inversus [1].”
BackgroundPrimary ciliary dyskinesia: state of the problem and prospects
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STYXL1 regulates CCT complex assembly and flagellar tubulin folding in sperm formation
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“Defects in the axoneme structure can cause morphological abnormalities of the fl agella and severe sperm motility disorders 5 .”
Association of DNAH11 gene polymorphisms with asthenozoospermia in Northeast Chinese patients
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Primary ciliary dyskinesia: modern approaches to the diagnostics and treatment
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“У пациентов мужского пола с олигозооспермией или обструктивной азооспермией для решения проблемы деторождения используют процедуры экстракорпорального оплодотворения [27].”
Genetics, diagnosis and future treatment strategies for primary ciliary dyskinesia
Daniels, M. L. A., & Noone, P. G. (2014) · Expert Opinion on Orphan Drugs · doi:10.1517/21678707.2015.989212 · Cited by 16 · see citing works
“There are rare reports of men with PCD who have fathered children with [27] and without fertility assistance [28].”
BackgroundSpermatocytes have the capacity to segregate chromosomes despite centriole duplication failure
Skinner, M. W., Simington, C. J., López‐Jiménez, P., Baran, K. A., Xu, J., Dayani, Y., Pryzhkova, M. V., Page, J., Gómez, R., Holland, A. J., et al. (2024) · EMBO Reports · doi:10.1038/s44319-024-00187-6 · Cited by 16 · see citing works
“Conditions such Bardet-Biedl and Kartagener syndromes are examples of such conditions where subfertility is an observed phenotype in patients (Lindstrand et al, 2016; Sha et al, 2014; Halbert et al, 1997).”
Sun, M., Zhang, Y., JiyunYang, Wang, Y., Tan, H., Wang, H., Lei, T., Li, X., Zhang, X., Xiong, W., et al. (2020) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-020-01859-7 · Cited by 16 · see citing works
“Since then, the laterality defects reflected in situs inversus, which result from the embryonic nodal cilia dysfunction known as Kartagener syndrome, have been observed in half of all PCD cases [3].”
BackgroundNew insights in primary ciliary dyskinesia
Reula, A., Lucas, J. S., Moreno, A., Romero, T., Milara, J., Cardá, C., Mata, M., Escribano, A., Dası́, F., & Armengot‐Carceller, M. (2017) · Expert Opinion on Orphan Drugs · doi:10.1080/21678707.2017.1324780 · Cited by 15 · see citing works
“understand the true prevalence of infertility [33].”
BackgroundCannarella, R., Maniscalchi, E. T., Condorelli, R. A., Scalia, M., Guerri, G., Vignera, S. L., Bertelli, M., & Calogero, A. E. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.00974 · Cited by 14 · see citing works
Left middle lobectomy for bronchiectasis in a patient with Kartagener syndrome: a case report
Lin, H., Cao, Z., Zhao, X., & Ye, Q. (2016) · Journal of Cardiothoracic Surgery · doi:10.1186/s13019-016-0426-y · Cited by 11 · see citing works
SCSA results correlated with rate of motility reduction after ejaculation in Asthenozoospermia
Fard, Z. M., Naghdi, M., Salehi, P., Shahrokhi, S. Z., Ajami, A., Deemeh, M., & Meshkibaf, M. (2018) · Andrologia · doi:10.1111/and.13146 · Cited by 10 · see citing works
Primary ciliary dyskinesia and male infertility: Unraveling the genetic and clinical nexus
Roostaei, G., Rad, N. K., B, M. S. F., Mozaffari, S., Rahimi, B., Kazemizadeh, H., & Abtahi, H. (2024) · Andrology · doi:10.1111/andr.13802 · Cited by 9 · see citing works
“7 Counseling is also essential for male PCD patients, as reproductive challenges are common and modern reproductive technologies provide effective solutions.”
Expression profiles of NPHP1 in the germ cells in the semen of men with male factor infertility
Devi, A. N., Kumar, T. R. A., Pillai, S. M., Jayakrishnan, K., & Kumar, P. G. (2015) · Andrology · doi:10.1111/andr.12062 · Cited by 9 · see citing works
“Sha et al. (2014) have reported that because sperm flagellum is a ciliary type, abnormal cilia leads to the loss of flagellar ability to swing resulting in male infertility.”
BackgroundZhou, L., Li, Z., Du, C., Chen, C., Sun, Y., Gu, L., Zhou, F., & Song, Y. (2020) · Molecular Medicine Reports · doi:10.3892/mmr.2020.11562 · Cited by 8 · see citing works
“Fortunately, most patients with PCD have healthy offspring with the help of assisted reproductive technology (22).”
BackgroundCan SCSA and TUNEL forecast apoptosis-related motility depletion in Asthenozoospermia?
Fard, Z. M., Naghdi, M., Salehi, P., Ajami, A., Deemeh, M. R., & Meshkibaf, M. H. (2018) · Andrologia · doi:10.1111/and.13025 · Cited by 8 · see citing works
Kartagener’s syndrome with recurrent respiratory infection: a case report
Poudel, S., Basnet, A., Bista, S., Shah, R. J., & Chhetri, B. T. (2023) · Annals of Medicine and Surgery · doi:10.1097/ms9.0000000000000796 · Cited by 5 · see citing works
“Infertility is also another aspect that has to be addressed in patients with suitable options including intracytoplasmic sperm injection([22]).”
BackgroundManagement erwachsener Patientinnen und Patienten mit Bronchiektasen-Erkrankung
Ringshausen, F. C., Baumann, I. G., Roux, A. D., Dettmer, S., Diel, R., Eichinger, M., Ewig, S., Flick, H., Hanitsch, L. G., Hillmann, T., et al. (2024) · Pneumologie · doi:10.1055/a-2311-9450 · Cited by 4 · see citing works
Ferraro, V. A., Andrinopoulou, E., Sijbring, A. M. M., Haarman, E. G., Tiddens, H. A. W. M., & Pijnenburg, M. W. H. (2020) · ERJ Open Research · doi:10.1183/23120541.00210-2019 · Cited by 4 · see citing works
“…may be neonatal respiratory distress [5], organ laterality defects [6], daily wet and productive cough [3], daily nasal congestion, chronic sinusitis, recurrent otitis media and nasal polyps [7, 8], recurrent lower respiratory tract infections, bronchiectasis [1, 3, 4] and male infertility [9, 10].”
Meiotic divisions and round spermatid formation do not require centriole duplication in mice
Skinner, M. W., Nhan, P. B., Simington, C. J., & Jordan, P. W. (2025) · PLoS Genetics · doi:10.1371/journal.pgen.1011698 · Cited by 3 · see citing works
Gupta, P., Adhikari, P., Ghimire, P., Nepal, S., Mandal, A., Ghimire, D., Katwal, S., Katwal, P., & Thapa, R. (2025) · Annals of Medicine and Surgery · doi:10.1097/ms9.0000000000002987 · Cited by 2 · see citing works
“1), while cases lacking situs inversus were termed incomplete KS [ 1 , 2 ] .”
Primary ciliary dyskinesia as a rare cause of male infertility: case report and literature overview
Novák, J., Horáková, L., Puchmajerová, A., Vik, V., Krátká, Z., & Thon, V. (2024) · Basic and Clinical Andrology · doi:10.1186/s12610-024-00244-z · Cited by 2 · see citing works
Semen analysis - what a clinician should know
Lam, K., Li, R., Ng, E. H. Y., Ho, P., & Yeung, W. (2015) · Cited by 2 · see citing works
Kartagener and Immotile Cilia Syndrome
Dutra, I. F., & Roque, M. (2020) · Springer eBooks · doi:10.1007/978-3-030-37972-8_16 · Cited by 1 · see citing works
Khan, M., Saleem, N. U. A., Sajjad, W., & Iqbal, J. (2025) · Annals of Medicine and Surgery · doi:10.1097/ms9.0000000000002878 · Cited by 1 · see citing works
de Medeiros, A. S. A., da Silva, P. I. R., Padilha, R. T., & Magalhães-Padilha, D. M. (2020) · Research Society and Development · doi:10.33448/rsd-v9i9.7323 · Cited by 1 · see citing works
Aboud, K. A., Aboud, D. A., Munshi, S., & Halawi, A. A. (2014) · Basic and Clinical Andrology · doi:10.1186/2051-4190-24-7
“Kartagener syndrome [3,4] This is an older term for primary ciliary dyskinesia (PCD).”
BackgroundThe Genetic Basis of Male Infertility
Herati, A. S., Butler, P. R., & Lamb, D. J. (2017) · Cambridge University Press eBooks · doi:10.1017/9781316411124.016
Harbottle, S. J. (2018) · Wiley eBooks · doi:10.1002/9781118977231.ch21
Place of Surgery for Bilateral Bronchectasis in Kartagener Syndrome (About two Cases)
Harmouchi, H. (2019) · Biomedical Journal of Scientific & Technical Research · doi:10.26717/bjstr.2019.20.003442
“The surgery of this form of bronchiectasis remains recommended because of localized situation of these lesions, and in order to avoid the evolution towards the destruction of other territories that can be a source of the development of a chronic pulmonary heart [9,10].”
BackgroundCcdc38 is required for sperm flagellum biogenesis and male fertility in mousePreprint
Zhang, R., Wu, B., Liu, C., Wang, X., Wang, L., Xiao, S. J., Chen, Y., Wei, H., Gao, F., Yuan, L., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.01.10.475757
Síndrome de Kartagener, a propósito de un caso clínico. Revisión de la bibliografía
Dután-Patiño, P., Quizhpe, P. J., & Sanmartin, M. (2025) · Revista Española de Casos Clínicos en Medicina Interna · doi:10.32818/reccmi.a10n1a9
Shinozaki, R., Sugimoto, Y., Nakano, H., Aoki, R., Yamamoto, T., Takata, K., Hasama, D., & Tukasa, Y. (2025) · Respiratory Medicine Case Reports · doi:10.1016/j.rmcr.2025.102259
“Patients with this disease are easily affected by respiratory tract infections and declining respiratory function [4].”
Mathur, R. (2025) · Radiopaedia.org · doi:10.53347/rid-217901
A Case Report of Kartagener’s Syndrome: Clinical Presentation, Diagnosis, and Management Challenges
Ahamefule, O. C., Ekele, R., Progress, O.-I., Jafaru, M., Ugwunze, C., Tochukwu, E. V., Emmanuel, O., Success, O., & Chinyere, I.-P. (2025) · Central African Journal of Public Health · doi:10.11648/j.cajph.20251106.16
Management of Adult Bronchiectasis: Consensus-Based Guidelines of the German Respiratory Society
Ringshausen, F. C., Baumann, I., Roux, A. D., Dettmer, S., Diel, R., Eichinger, M., Ewig, S., Flick, H., Hanitsch, L. G., Hillmann, T., et al. (2026) · Respiration · doi:10.1159/000551643
Liao, B., Xie, W., Shuai, M., Xiao, L., Huang, J., He, Y., & He, S. (2026) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2026.1769803
“…including variants c.811T and c.1349_1350insC (Loges et al., 2009), c.691A > C (Miao et al., 2016), c.571C > T (Hartill et al., 2018), c.524T>G (Duquesnoy et al., 2009), c.943A>T, c.3G>A, c.124 + 1G>C, c.509delG and c.943A>T (Zhou et al., 2020), as well as c.86delG (Ito et al., 2024) (Table 2).”
Emerging Diagnosis and Treatment of Male Infertility: Hope versus Reality
Atmoko, W., Çayan, S., Pescatori, E., Nguyen, Q., Pinggera, G., Валерьевич, Ш. Т., Le, T. V., Ryzhkov, A. I., Martinez, M. P., Phuoc, N. H. V., et al. (2026) · The World Journal of Men s Health · doi:10.5534/wjmh.260030
- Authors
- Li, P., Sha, Y.-W., & Ding, L.
- Affiliations
- Xiamen Maternal and Child Health Hospital (CN)
- Corresponding author
- Li, Ping
- Venue
- Asian Journal of Andrology
- Published
- 2014
- Volume
- 16
- Issue
- 1
- Pages
- 101
- ISSN
- 1008-682X (ISSN-L)
- PMC
- PMC3901865
- OpenAlex
- W2148447904
- Cited by
- 59
- References
- 96
- Citations by year
- 2026: 3 · 2025: 7 · 2024: 6 · 2023: 2 · 2022: 2 · 2021: 2 · 2020: 10 · 2019: 4 · 2018: 7 · 2017: 5 · 2016: 6 · 2015: 3 · 2014: 2
- FWCI
- 4.28
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by-nc-sa
- Locations
- Asian Journal of Andrology (publishedVersion, cc-by-nc-sa)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-sa)
- PubMed Central (publishedVersion, cc-by-nc-sa)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
- Keywords
- primary ciliary dyskinesia, Kartagener syndrome, male infertility, intracytoplasmic sperm injection, assisted reproduction, genetic screening, susceptibility genes, ciliary dysfunction, autosomal recessive inheritance
- MeSH terms
- Adolescent, Adult, Child, Female, Humans, Infertility, Male, Kartagener Syndrome, Male
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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