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CASE REPORT
Year : 2006  |  Volume : 23  |  Issue : 3  |  Page : 123-125 Table of Contents   

Kartagener's syndrome in a fertile male - An uncommon variant


Department of Respiratory Medicine Military Hospital, Namkum, Ranchi-834010., India

Correspondence Address:
M S Barthwal
Pulmonologist, Military Hospital, Namkum, Ranchi-834010.
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0970-2113.44404

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   Abstract 

Primary ciliary dyskinesia, with Kartagener's syndrome as one of the subsets, is an autosomal recessive disorder with significant genetic heterogeneity. A 26-year old male with this syndrome, presenting with recurrent upper and lower respiratory tract infection, was found to be fertile. The case is being reported for uncommon occurrence of this syndrome with male fertility.

Keywords: Kartagener′s syndrome, Primary ciliary dyskinesia.


How to cite this article:
Barthwal M S. Kartagener's syndrome in a fertile male - An uncommon variant. Lung India 2006;23:123-5

How to cite this URL:
Barthwal M S. Kartagener's syndrome in a fertile male - An uncommon variant. Lung India [serial online] 2006 [cited 2017 Sep 25];23:123-5. Available from: http://www.lungindia.com/text.asp?2006/23/3/123/44404


   Introduction Top


The Kartagener's syndrome comprises of classic triad of situs inversus, bronchiectasis and recurrent sinusitis. Male patients with this syndrome are almost invariably infertile because of immotile spermatozoa. The immotility is due to variety of ultrastructural defects in respiratory cilia and sperm tail. [1] Although concordance between abnormalities of cilia and sperm tails is a rule [2] , yet there may be occasional discordance because of variable phenotypic presentations [3] . There have been few cases described who have classic Kartagener's syndrome and abnormal airway ciliary ultrastructure but normal spermatozoa [1],[3] . The present case report describes this uncommon variant of Kartagener's syndrome.


   Case Report Top


A 26-year old male presented with history of recurrent episodes of rhinorrhea, cough with mucopurulent expectoration associated with moderate to high-grade fever since his childhood days. His symptoms used to subside after taking treatment. There was no history of breathlessness, wheezing, hemoptysis or loss of weight. There was no history of similar illness in other members of his family. Clinical examination revealed an averagely build patient with no pallor, pedal edema, clubbing or lymphadenopathy. Chest examination revealed coarse crackles in right infrascapular and infraaxillary regions with few localized rhonchi over the same regions. Cardiovascular examination revealed apex beat in 5th right intercostal space in midclavicular line and cardiac dullness in mirror image position on right side. The upper border of liver dullness was in left 6th intercostal space and tympanitic note of fundal gas was in right 7th intercostal space. Rest of clinical examination was essentially normal. Laboratory investigations showed normal haemogram and ESR. Sputum for gram's and Ziehl-Neelsen stain did not reveal any microorganism. Metabolic parameters were within normal limits. Chest radiograph [Figure 1] showed dextrocardia. High resolution computed tomography of chest revealed cystic bronchiectasis involving right lower lobe [Figure 2]. Barium meal follow through examination revealed transposition of viscera [Figure 3] thus confirming situs inversus totalis. Radiograph of paranasal sinuses showed bilateral maxillary sinusitis. ECG findings were suggestive of true dextrocardia. Echocardiography did not reveal any abnormality. Spirometry test showed mild obstructive defect. Semen analysis revealed normal sperm count and more than 60 percent motility. Saccharine test for mucociliary clearance showed longer time (30 min) as compared to control (16 min) suggestive of impaired mucociliary clearance. The diagnosis of Kartagener's syndrome was made on the basis of situs inversus totalis, bronchiectasis and chronic sinusitis. The individual has two brothers and one sister and none of them has any of the features of this syndrome. He got married during work up of the case and has fathered a child. The child did not show any evidence suggestive of this syndrome when followed up till two years of age. The management during the symptomatic period consisted of antibiotics and chest physiotherapy. He has been advised to seek medical advice whenever symptoms of respiratory tract infection appear.


   Discussion Top


The syndrome of situs inversus, paranasal sinusitis and bronchiectasis was first reported by Siwert in 1904 and later described in detail by Kartagener [4] . Afzelius [5] was first to recognize the relationship between Kartagener's syndrome and male infertility when he observed lack of dynein arms in the sperms and cilia of four subjects, three with Kartagener's syndrome and a fourth one, brother of one of the three subjects. The identification of these abnormalities led to the use of more descriptive term immotile cilia syndrome in place of Kartagener's syndrome. Since it was observed that in most patients the cilia do move, although the motion is invariably uncoordinated and ineffective, the term immotile cilia syndrome was replaced by primary ciliary dyskinesia or dyskinetic cilia syndrome. [2] The ciliary abnormalities prevent normal transport of mucus from the bronchial tree to the mouth and result in serious impairment of lungs' defense system resulting in repeated sinopulmonary infections. The prevalence of primary ciliary dyskinesia is about 1 in 12,500 to 50,000 and when situs inversus is encountered (in about 50% of these patients), the disorder is referred to as Kartagener's syndrome [2] . The mode of inheritance is autosomal recessive with variable phenotypic expressions. The diagnostic criteria recommended for this syndrome are history of chronic bronchial infection and rhinitis from early childhood, combined with one or more of following features: - (a) situs inversus or dextrocardia in a patient or a sibling, (b) living but immotile spermatozoa, (c) tracheobronchial clearance which is absent or nearly so, and (d) cilia that have ultra structural defects characteristic of the syndrome [2] . Our case had all these features except that he had normal sperm count and motility.

Male infertility is usually a rule in Kartagener's syndrome due to associated immotility or uncoordinated motility of sperms [3] . However, there have been few cases described who have classic triad and abnormal ciliary ultra structure but normal spermatozoa [1],[3] . In a study [6] of twelve men with primary ciliary dyskinesia, six with dextrocardia, who presented with upper and lower respiratory tract infections, four had normal spermatozoa. The possible mechanism for this paradox could be a genetically mediated heterogeneity influencing the phenotypic presentations. There have been cases reported who have sterility associated with ultra structural abnormalities of sperm but normal respiratory ciliary structure and function, ultrastructurally normal respiratory cilia and spermatozoa with Kartagener's Syndrome re­emphasizing the genetic heterogeneity and variable phenotypic presentations [2] . The male fertility with this syndrome has also been reported in older literature, but the findings were not confirmed by electron microscopy of cilia and sperms. [3] Our case had normal sperm count and motility, however, we could not carry out the electron microscopy of sperms to confirm the normal ultra structure of sperms. However, in view of normal sperm count and motility and individual having fathered a child, it was presumed that he is fertile. The management of these patients consists of prompt treatment of sinopulmonary infections with antibiotics to avoid complications.

In conclusion, all patients with primary ciliary dyskinesia with or without Kartagener's syndrome should be offered seminal analysis for sperm count and motility. Only after this the patients should be given counseling on the likelihood of infertility. Similarly parents of boys with similar disoder should not be informed that they will be infertile. They should be informed about the guarded prognosis until the child's age permits seminal analysis to clarify the situation.[7]

 
   References Top

1.Samuel I. Kartagener's Syndrome with normal spermatozoa JAMA 1987; 258: 1329-30.  Back to cited text no. 1    
2.Fraser, Muller NL, Colman N et al. Bronchiectasis and other Bronchial Abnormalities. In: Fraser and Pare's, editors. Diagnosis of diseases of the Chest. 4th ed. Philadelphia. W.B.Saunders Company; 1999.p. 2281 - 2283.  Back to cited text no. 2    
3.Jonsson MS, McCormick JR, Gillies CG, et al. Kartagener's Syndrome with normal spermatozoa. N Eng J Med 1982; 307:1131-1133.  Back to cited text no. 3    
4.Kartagener M. Horlacher A. Bronchiektasien bei Situs Viscerum inversus. Schweiz. Med. Wschr. 1935; 65:782-784.  Back to cited text no. 4    
5.Afzelius BA. A human syndrome caused by immotile cilia. Science 1976; 193: 317-319.  Back to cited text no. 5  [PUBMED]  [FULLTEXT]
6.Munro NC, Currie DC, Lindsay KS, et al. Fertility in men with primary ciliary dyskinesia presenting with respiratory infection. Thorax 1994; 49:684-687.  Back to cited text no. 6  [PUBMED]  [FULLTEXT]
7.Conraads VM, Galdermans DI, KockX MM, et al. Ultrastructurally normal and motile spermatozoa in a fertile man with Kartagener's syndrome. Chest 1992;102:1616-18.  Back to cited text no. 7  [PUBMED]  [FULLTEXT]


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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