Clinical and Laboratory Characterization of Male Infertility in five Familial and Sporadic Cases

Abstract

Introduction: Male infertility is a complex reproductive disorder influenced by abnormalities in sperm characteristics, hormonal imbalance, and various genetic and environmental factors. Semen analysis is an essential diagnostic tool for evaluating male reproductive health and identifying abnormalities associated with infertility. The present study was conducted in District Malakand, Khyber Pakhtunkhwa, Pakistan, to investigate semen parameters among infertile males from familial and unrelated cases. Methodology: A total of 53 infertile males were included in the study, comprising 16 individuals from five families and 37 unrelated infertile individuals. Semen samples were collected under standardized laboratory conditions and analyzed according to the World Health Organization (WHO) guidelines. Parameters including semen volume, sperm count, motility, morphology, viability, and the presence of pus cells were evaluated to assess semen quality among the participants. Results: The results revealed considerable variation in semen quality among the affected individuals. Azoospermia was observed in 24.32% of unrelated infertile males, indicating the complete absence of sperm in semen. Several individuals exhibited oligospermia characterized by reduced sperm concentration. Normospermia with functional impairment was detected in 24.32% of cases, suggesting that normal semen parameters do not always guarantee fertility. Teratospermia and hypospermia were identified in 13.51% and 10.81% of individuals, respectively. Familial analysis also showed that some affected members had normal sperm concentration but reduced motility and increased dead sperm percentage. Conclusion: In conclusion, abnormalities in sperm concentration, motility, morphology, and viability were strongly associated with infertility in the studied population. Comprehensive semen evaluation is essential for accurate diagnosis, and further clinical and molecular studies are recommended to better understand the genetic and environmental factors contributing to male infertility.