Kartagener's Syndrome with Motile Spermatozoa

Jonsson, Magni S.; McCormick, John R.; Gillies, Concettina; Gondos, Bernard

doi:10.1056/nejm198210283071807

Cited by 87 publications

(23 citation statements)

References 8 publications

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“…As indicated previously the subject from our study showed no such defects in his respiratory cilia. This, in itself, is an important observation particularly when considering studies that describe normal cilia and abnormal flagella or vice versa (25,28). This confirms other reports that structural defects of axonemes are not necessarily distributed throughout all cell types and may be confined to a particular location within the body.…”

Section: Discussionsupporting

confidence: 82%

Structural heterogeneity of the axonemes of respiratory cilia and sperm flagella in normal men.

Wilton¹,

Teichtahl²,

Temple-Smith³

et al. 1985

J. Clin. Invest.

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The ultrastructure of normal human cilia and flagella was examined and quantitatively assessed to determine the normal variations in the structure of the axoneme. Ciliated respiratory epithelial cells and spermatozoa from 10 normal, nonsmoking male volunteers who had normal semen parameters were fixed for electron microscopy. Tannic Significantly more doublet microtubules (P < 0.05) and less central microtubules (P < 0.01) and radial spokes (P < 0.01) were seen in cilia than in sperm tail axonemes. Between subjects there was little variation in the mean number of a structure seen per axoneme. However, within each sample, the variation was considerably higher, particularly for the inner and outer dynein arms and radial spokes. The doublet microtubules had significantly greater standard deviations in the sperm tails compared with the cilia (P < 0.01), and furthermore, a significantly greater number of sperm tails compared with cilia showed the incorrect number of doublet microtubules (P < 0.02). In one semen sample, with normal semen analysis, 20% of the sperm tails showed incorrect numbers of doublet microtubules, ranging from 12 + 2 to 5 + 2 compared with only 1.3% in cilia from this subject. This study has demonstrated that the ideal axoneme is rarely seen even in normal samples, probably because of the technical difficulties in resolution and visualization, and stresses the need for thorough documentation of axonemal ultrastructure. This work provides a normal data base for comparison with patients who have chronic respiratory disease and suspected infertility.

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Section: Discussionsupporting

confidence: 82%

Structural heterogeneity of the axonemes of respiratory cilia and sperm flagella in normal men.

Wilton¹,

Teichtahl²,

Temple-Smith³

et al. 1985

J. Clin. Invest.

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show abstract

“…A patient with immotile spermatozoa and normally functioning cilia through the rest of his body was reported where the spermatozoa lacked dynein arms but the other cilia had normal ultrastructure [41]. There were two separate reports of patients with repeated respiratory tract infections indicative of PCD, yet both patients had motile spermatozoa [42,43].…”

Section: Discussionmentioning

confidence: 99%

Successful twin birth following blastocyst culture of embryos derived from the immotile ejaculated spermatozoa from a patient with primary ciliary dyskinesia: A case report

Kordus

Price

Davis

et al. 2008

J Assist Reprod Genet

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Purpose To describe the ultrastructure of spermatozoa from a patient with complete asthenozoospermia that resulted in live births following blastocyst culture. Materials and methods Analyses of spermatozoa from a 36 year old patient were performed using light and electron microscopy. The hypo-osmotic swelling test was used to select spermatozoa for intracytoplasmic sperm injection. Embryos were cultured to the blastocyst stage. Results 100% of the spermatozoa had dynein arm deficiency with secondary defects varying from 3-17%. Six oocytes were injected; five fertilized normally and one was digynic. All five zygotes formed good quality blastocysts. Three blastocysts were cryopreserved and two blastocysts were transferred. Twin females were born at 37 weeks. Conclusions The hypo-osmotic swelling test can be used to select viable immotile ejaculated spermatozoa from a patient with dynein arm deficiency and can produce excellent fertilization rates and blastocyst development resulting in live births.

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“…at bronchoscopy. There is some evidence that spermatazoal tails are under the control of different genetic loci [46,47], so semen analysis may not reflect respiratory cilia.…”

Section: Need For Repeated Testsmentioning

confidence: 99%

Primary ciliary dyskinesia: diagnosis and standards of care

Bush¹,

Cole²,

Hariri³

et al. 1998

Eur Respir J

347

285

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Primary ciliary dyskinesia (PCD) is characterized by disease of the upper and lower respiratory tract, in association with visceral mirror image arrangement in 50% of cases, due to abnormal structure and/or function of cilia. The purpose of this paper is to review the clinical features, diagnosis and management of PCD. Presentations include neonatal respiratory distress, recurrent lower respiratory tract infection, chronic rhinosinusitis and male infertility. PCD enters the differential diagnosis of bronchiectasis, atypical asthma, and unusually severe upper airway disease. Diagnosis is by a cascade of investigations, starting with the saccharin test in patients older than 10 yrs; ciliary beat frequency and pattern on light microscopy; and electron microscopy to assess ciliary morphology and orientation. It is important not to confuse primary and secondary ciliary abnormalities. Nasal nitric oxide is low in PCD, and this measurement shows promise as a screening test for PCD. Diagnosis is important, in order to prevent the development of bronchiectasis and to avoid any unnecessary otorhinolaryngological procedures. Regular follow-up is essential, and management should be multidisciplinary, with input from centres with a special interest in PCD, having access to paediatric and adult chest physicians, otolaryngologists and audiological physicians, physiotherapists, counselling services and fertility clinics. The prognosis is good, but morbidity can be considerable if PCD is incorrectly managed.

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Kartagener's Syndrome with Motile Spermatozoa

Cited by 87 publications

References 8 publications

Structural heterogeneity of the axonemes of respiratory cilia and sperm flagella in normal men.

Structural heterogeneity of the axonemes of respiratory cilia and sperm flagella in normal men.

Successful twin birth following blastocyst culture of embryos derived from the immotile ejaculated spermatozoa from a patient with primary ciliary dyskinesia: A case report

Primary ciliary dyskinesia: diagnosis and standards of care

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