Klinefelter

Klinefelter Syndrome

Klinefelter Syndrome (pronounced: /ˈklaɪnˌfɛltər/), also known as 47,XXY or XXY syndrome, is a genetic condition that occurs in males when they have an extra X chromosome. Most males have one X and one Y chromosome (XY), but males with Klinefelter Syndrome have two X chromosomes and one Y chromosome (XXY). The syndrome was first described by the American endocrinologist Harry F. Klinefelter Jr. in 1942.

Etymology

The term "Klinefelter Syndrome" is named after Dr. Harry F. Klinefelter Jr., who, along with his colleagues Dr. E. C. Reifenstein and Dr. F. Albright, first described the condition in a paper published in 1942. The term "47,XXY" refers to the chromosomal abnormality that characterizes the condition.

Symptoms

Symptoms of Klinefelter Syndrome can vary widely among affected individuals. Some common symptoms include infertility, gynecomastia (enlarged breast tissue), reduced muscle mass, less facial and body hair compared to typical males, and taller than average stature. Some affected individuals may also have learning disabilities or dyslexia, and some may have behavioral problems.

Diagnosis

Klinefelter Syndrome can be diagnosed through a karyotype, a laboratory procedure that analyzes the number and structure of an individual's chromosomes. Prenatal diagnosis is also possible through amniocentesis or chorionic villus sampling (CVS).

Treatment

There is no cure for Klinefelter Syndrome, but treatments can help manage symptoms. These may include testosterone replacement therapy, physical therapy, speech therapy, occupational therapy, and educational support. Infertility treatment may also be an option for some individuals.

Related Terms

• Chromosome
• Genetic disorder
• Sex chromosome
• Testosterone
• Infertility

External links

• Medical encyclopedia article on Klinefelter
• Wikipedia's article - Klinefelter

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