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Klinefelter Syndrome

Meaning

Klinefelter Syndrome is a common sex chromosome aneuploidy in males, defined by the presence of an extra X chromosome, resulting in a 47,XXY karyotype. This genetic configuration leads to primary testicular failure, characterized by seminiferous tubule dysgenesis and progressive Leydig cell dysfunction. Clinically, this manifests as hypergonadotropic hypogonadism, meaning low testosterone levels with elevated pituitary gonadotropins (LH and FSH), often accompanied by gynecomastia, small testes, and infertility. Comprehensive endocrine and genetic evaluation is necessary for lifelong management and support.