Primary ciliary dyskinesia, with Kartagener's syndrome as one of the subsets, is an autosomal recessive disorder with significant genetic heterogeneity. A 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. Page layout. Official publication of Indian Chest Society.
Male fertility: causes and medicines which impact conception
Kartagener's syndrome in a fertile male - An uncommon variant Barthwal M S - Lung India
Kartagener's syndrome is a rare, autosomal recessive genetic ciliary disorder comprising the triad of situs inversus, chronic sinusitis, and bronchiectasis. We hereby report three unusual cases of this rare entity — an infertile male with azoospermia in whom Bochdalek's diaphragmatic hernia coexisted, another case of an infertile female, and a third of an infertile male with oligospermia. The need for a high index of suspicion to make an early diagnosis cannot be overemphasized in such patients so that wherever possible, options for timely treatment of infertility may be offered and unnecessary evaluation of symptoms is avoided. Kartagener's syndrome KS is a subset of a larger group of ciliary motility disorders called primary ciliary dyskinesias PCDs.
A growing number of DNA polymerases have been identified, although their physiological function and relation to human disease remain mostly unknown. Ultrastructural analysis reveals that inner dynein arms of cilia from both the ependymal cell layer and respiratory epithelium are defective, which may underlie the pathogenesis of hydrocephalus, situs inversus totalis, chronic sinusitis, and male infertility. Recently, various DNA polymerases have been identified 7 , 12 ,
Kay, D. This paper reports on the successful treatment by in-vitro fertilization IVF of a couple in whom the male partner had Kartagener's syndrome. His spermatozoa were severely asthenozoospermic with deficient dynein arms and disordered microtubular configuration. On computer-assisted sperm analysis CASA motile spermatozoa displayed straight non-progressive motility with minimal amplitude of lateral head displacement and none were hyperactivated. This is the first case report in which spermatozoa with axonemal disruption in a man with immotile cilia syndrome ICS have been shown to be able to penetrate the zona pellucida and fertilize oocytes.