Unravelling the Klinefelter Syndrome physiopathology
(2025)
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- Abstract
- Klinefelter's syndrome (KS) is the most common chromosomal disorder in men, affecting 1-2 per 1,000 men, and is characterised by the presence of an extra X chromosome (47,XXY). It is the most common genetic cause of azoospermia in men. Infertility in KS is caused by degeneration of the testicular tissue, with hyalinisation of the seminiferous tubules, hyperplasia of Leydig cells, apoptosis of spermatogonia and arrest of germ cell maturation. This process begins during foetal development and accelerates during puberty. The exact mechanism of tissue hyalinisation remains poorly understood and it is unclear whether this degeneration is due to an altered somatic environment or a deficiency of germ cells. Understanding the causes of the extensive loss of germ cells and the testicular fibrosis may lead to novel therapies. This thesis aims to elucidate the function of the spermatogonia stem cell niche in KS, with a particular focus on the role of KS Sertoli cells.
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Citations
Giudice, M. G. (2025). Unravelling the Klinefelter Syndrome physiopathology. https://hdl.handle.net/2078.5/245930