Impact of Heat Shock Protein and Tumor Necrosis Factor on Klinefelter Syndrome

Abstract Background: Klinefelter Syndrome (KS) is the most common sex chromosome aneuploidy (47, XXY), with the existence of an extra chromosome that produces increased levels of gene products and changes in gene expression and contributing to proinflammatory status. Aim: identifying the impact of heat shock proteins and tumor Necrosis Factor on KF pathogenesis. Methods: This study included 35 Klinefelter patients, their age ranged from 8-16 years (14.14±1.95). Patients were clinically diagnosed, then karyotype was performed to all patients. Biochemical analyses including Heat shock proteins (HSPs) and the proinflammatory marker TNF-α were performed. Results: Developmental delay occurred in 48.6% and facial dysmorphism including epicanthal folds, hypertelorism, depressed nasal bridge in 28.6%, gynecomastia in 28.6%, undescended Testis in 60%, increased height in 69.6%, congenital heart disease in 54.3%, intellectual disability in 57.1% and the karyotype was 47, XXY in all patients. The level of Heat Shock Protein –70 and TNF α in Klinefelter syndrome patients was higher compared to the normal controls. Moreover, the level of heat Shock Protein –70 and TNF α in the patients with Klinefelter syndrome and intellectual disability was higher than those without intellectual disability. On the other hand, testosterone level was decreased in KF patients compared to controls. Moreover, a significant negative correlation was observed between testosterone and both Heat Shock Protein –70 and TNF- α. Conclusion: The particular impacts of Heat Shock Protein –70 and TNF- α remain to be elucidated in future studies to enlighten their importance and possible association with the severity of Klinefelter syndrome.