- most common chromosomal disorder associated with male hypogonadism and infertility
- poor sexual development, small or undescended testes, scanty pubic hair, gynaecomastia and infertility
- testes are firm due to fibrosis and hyalinisation of seminiferous tubules
- involves loss of Leydig cell and seminiferous tubular dysgenesis
- associated with increased risk of male breast cancer
- low serum testosterone, high serum FSH & LH (primary hypogonadism)
- diagnosis: chromosomal analysis
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