Fertility in men with primary ciliary dyskinesia presenting with respiratory infection.

Abstract

Background -Primary ciliary dyskinesia is characterised by chronic rhinosinusitis, chronic bronchial sepsis (usually with bronchiectasis), dextrocardia in approximately 50% of cases, and male infertility. The latter, described in patients attending infertility clinics, results from immotile but viable spermatozoa. Experience in a respiratory clinic suggests that infertility in men is not invariable. Methods -The seminal fluid of 12 men with primary ciliary dyskinesia, six with dextrocardia, who presented consecutively with upper and lower respiratory tract sepsis was examined. Nasal ciliary beating was dyskinetic or absent in ali cases, and nasal ciliary ultrastructure was abnormal in those 11 patients examined. Results -Viable but immotile spermatozoa with abnormal tail ultrastructure were found in the ejaculate of only two patients. Two other patients had apparently fathered children; seminology in both these cases showed a normal spermatozoa count, one with normal spermatozoal motility and normal ultrastructure, the other with moderately reduced spermatozoal motility and abnormal ultrastructure (dynein arm deficiency on the peripheral microtubule doublets). A further two patients had normal spermatozoa counts, normal spermatozoa tail ultrastructure, and normal or only moderately reduced motility of spermatozoa. The spermatozoa of one patient were normally motile but there was severe oligozoospermia, and five patients were azoospermic. Conclusions -Not all men with primary ciliary dyskinesia have immotile spermatozoa. Seminal analysis is recommended in men with primary ciliary dyskinesia so that accurate counselling about reproductive capability may be given.inner and outer dynein arms which interact with neighbouring microtubules to produce movement.Primary ciliary dyskinesia is a congenital condition characterised by purulent rhinosinusitis, chronic bronchial sepsis which is usually associated with bronchiectasis, and, frequently, male infertility.2' About 50% of patients have dextrocardia with or without situs inversus and meet the criteria for Kartagener's syndrome. The characteristic seminal analysis in primary ciliary dyskinesia is a normal number of viable but immotile spermatozoa. A common defect -usually partial or complete deficiency of one or both sets of dynein arms -may account for the dyskinetic beating of the respiratory cilia and the immotility of spermatozoan tails in this condition.2Most men with primary ciliary dyskinesia are infertile because of immotile spermatozoa.45 This may be because of a bias in case selection towards those attending for investigation of infertility whose respiratory symptoms were only fully investigated once immotile spermatozoa were noted. There are single case reports of men presenting with respiratory disease due to primary ciliary dyskinesia with normal seminal analysis6 and azoospermia.7 We examined the fertility of men with primary ciliary dyskinesia who presented consecutively with respiratory symptoms. Methods PATIENTSAll patients with persistent resp...

Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD

“…Although male infertility is said to be common in PCD, it is not universal [Munro et al, 1994]. Indeed, one of the DNAH11 PCD patients reported by Schwabe [Schwabe et al, 2008] had apparently fathered two children without medical assistance.…”

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

“…The sperm count is typically normal, but sperm are immotile or their motility is severely limited [55,82]. In some reports, up to 50% of males with PCD are fertile [55].…”

“…The sperm count is typically normal, but sperm are immotile or their motility is severely limited [55,82]. In some reports, up to 50% of males with PCD are fertile [55]. Some females with PCD exhibit normal fertility, but others show impaired fertility and an increased risk of ectopic pregnancy because of impaired ciliary function in the oviduct [82].…”

“…Infertility in males (,50%) due to immotility of spermatozoa [55] Ectopic pregnancy and subfertility in females [9,56] PCD: primary ciliary dyskinesia…”

Clinical care for primary ciliary dyskinesia: current challenges and future directions

“…A systematic review suggested that 58% of women and 100% of men were infertile, but the included studies were highly heterogeneous [1]. MUNRO et al [85] reported azoospermia and oligospermia in a small sample size, with normal motility seen in only one patient. RAIDT et al [86] demonstrated that the motor protein composition of fallopian tube cilia is similar to that of respiratory cilia.…”