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Kartagener and Immotile Cilia Syndrome

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Genetics of Male Infertility

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Abstract

Among the many causes of male infertility, Kartagener syndrome (KS) – also known as immotile cilia syndrome or primary ciliary dyskinesia (PCD) – is among its genetic causes and deserves special attention, as it is accompanied by many complications that may severely affect the patient’s quality of life. PCD was first reported by Kartagener in 1933, when they described four patients presenting with the triad of chronic sinusitis, bronchiectasis, and situs inversus, thus establishing KS. Forty years later, Afzelius noted that these patients had “immotile” cilia and defective ciliary ultrastructure, specifically noticing a functional change in dynein arms, promoting decreased mucociliary clearance due to a lack of ciliary movement, which is known as “immotile cilia syndrome.” Concerning fertility, ciliary dysfunction may affect both male and female fertility. As the sperm flagellum is a type of cilia, an abnormal ciliary structure may lead to the reduction or inability of the flagellum to adequately work; as a consequence, male infertility may occur. On the other hand, ciliary dysfunction may also occur in the fallopian tubes of affected women, leading to an increased risk of ectopic pregnancy or infertility. ICSI represents a successful milestone for coping with infertility in men with KS, in which spermatozoa are either completely evident or initially immobile in the ejaculate. The use of testicular spermatozoa in combination with ICSI may serve as an alternative treatment and may be associated with even better results when compared to ejaculate sperm. Genetic counseling is strongly recommended for these patients.

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Author information

Authors and Affiliations

  1. Department of Reproductive Medicine, ORIGEN-Center for Reproductive Medicine, Rio de Janiero, Brazil

    Igor Faria Dutra

  2. Department of Surgery, Division of Urology, Antonio Pedro University Hospital, Fluminense Federal University, Rio de Janiero, Brazil

    Igor Faria Dutra

  3. Department of Reproductive Medicine, Mater Prime – Reproductive Medicine, São Paulo, Brazil

    Matheus Roque

Authors
  1. Igor Faria Dutra
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  2. Matheus Roque
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Editors and Affiliations

  1. Department of Urology, Hamad Medical Corporation, Doha, Qatar

    Mohamed Arafa

  2. Department of Urology, Hamad Medical Corporation, Doha, Qatar

    Haitham Elbardisi

  3. Department of Urology, Hamad Medical Corporation, Doha, Qatar

    Ahmad Majzoub

  4. Cleveland Clinic, Cleveland, OH, USA

    Ashok Agarwal

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Dutra, I.F., Roque, M. (2020). Kartagener and Immotile Cilia Syndrome. In: Arafa, M., Elbardisi, H., Majzoub, A., Agarwal, A. (eds) Genetics of Male Infertility. Springer, Cham. https://doi.org/10.1007/978-3-030-37972-8_16

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