Primary ciliary dyskinesia and male infertility: Unraveling the genetic and clinical nexus.

Abstract

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia in various organ systems, including the respiratory and reproductive tracts. A key manifestation in males is infertility, primarily attributed to impaired sperm motility. Although sperm vitality may be preserved, immotility or abnormal flagellar function significantly impairs natural conception. While a minority of men with PCD achieve fatherhood without medical intervention, most require assisted reproductive techniques (ART). The genetic etiology of PCD-related male infertility is rooted in mutations affecting dynein arms and other axonemal components essential for ciliary movement. Diagnostic evaluation relies on semen analysis, ultrastructural ciliary assessment, and genetic testing. Sperm vitality testing is critical when motility is severely compromised, providing crucial insight into fertilization potential. Management of male infertility in PCD predominantly involves ART. Intracytoplasmic sperm injection (ICSI) is particularly effective, as it circumvents the requirement for sperm motility. In cases where spermatozoa retrieval from ejaculate is not feasible, testicular sperm extraction (TESE) offers a viable alternative. Advances in diagnostic techniques and personalized therapeutic approaches have significantly improved fertility outcomes for PCD patients. Ongoing research into genetic therapies and targeted treatments holds promise for further enhancing reproductive success in this population. This review offers a comprehensive examination of the current knowledge surrounding PCD and its impact on male fertility, elucidating the genetic mechanisms, diagnostic challenges, and evolving therapeutic strategies in the management of PCD-associated male infertility.