Patient's question:
What are the symptoms of Klumpke's disease?Doctor's answer:
Hello: Klinefelter syndrome is a disease caused by typical sex chromosome abnormalities, related to X chromosome abnormalities, usually involving two or more X chromosomes. The most common type is 47,XXY.The characteristics of this male are: taller than normal individuals (such as his brother), longer limbs, a longer measurement from the pubis to the sole of the foot, smaller testes, and usually azoospermia.
Patients with Klinefelter syndrome have elevated levels of gonadotropins (FSH, LH) in their urine and plasma, while their plasma testosterone (T) levels are reduced to 50% of normal levels. Testicular biopsy may show hyalinization and fibrosis of the seminiferous tubules, excessive proliferation of Leydig cells, and degeneration of spermatogonia.
Most cases of this syndrome are associated with older maternal age (in the clinical cases observed by the author, this condition is predominantly seen in the brothers), which is caused by nondisjunction during oogenesis, leading to oocytes containing 24 chromosomes. This oogenic defect is the main cause of Klinefelter syndrome.