Klinefelter Syndrome: Understanding fertility, quality of life and socioeconomic challenges

This thesis provides a comprehensive analysis of Klinefelter Syndrome (KS), focusing on its impact on fertility, spermatogenesis, quality of life (QoL), socioeconomic status (SES), and healthcare provision.

A review of spermatogenesis in KS (Chapter 2) highlights significant germ cell loss and reduced sperm retrieval rates, with findings suggesting that fertility preservation is most effective in young adulthood. The study on the X-chromosomal origin (Chapter 3) found no correlation between parental inheritance and the presence of spermatozoa, reinforcing the complexity of KS-related fertility.

Healthcare accessibility and satisfaction among men with KS (Chapter 4) were examined, revealing moderate satisfaction but notable gaps in specialized care. Chapter 5 assessed QoL, demonstrating lower scores compared to the general population, particularly among those facing discrimination and mental health issues. The study also found reduced social participation among KS patients.

Chapter 6 examined SES, showing lower educational and occupational attainment, influenced by health status and neurocognitive challenges. The final chapter (Chapter 7) discusses clinical implications and the need for a multidisciplinary approach, particularly in improving healthcare pathways beyond fertility treatment. Addressing these gaps with structured, evidence-based care models could enhance overall outcomes for individuals with KS.