Klinefelter syndrome

prolarper

prolarper

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Klinefelter syndrome is a genetic condition in which a person assigned male at birth has an extra X chromosome. The most common chromosome pattern is 47,XXY, rather than the typical 46,XY.

Klinefelter syndrome results from a random error during the formation of sperm or egg cells called nondisjunction. It is usually not inherited.
Signs and symptoms

The severity varies, and some individuals have few or no noticeable symptoms. Common features include:
  • Tall stature with relatively long legs
  • Small, firm testicles
  • Low testosterone levels
  • Reduced facial and body hair
  • Decreased muscle mass
  • Enlarged breast tissue (gynecomastia)
  • Infertility or reduced fertility
  • Mild learning, language, or social difficulties in some individuals(Autism)
Diagnosis
Diagnosis is confirmed with a karyotype, a blood test that analyzes chromosomes. Hormone testing may show:
  • Low testosterone
  • Elevated luteinizing hormone (LH)
  • Elevated follicle-stimulating hormone (FSH)
 

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