Klinefelter Syndrome

Klinefelter Syndrome

Klinefelter Syndrome (pronounced: kline-felt-er sin-drome), 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).

Etymology

The condition is named after Dr. Harry F. Klinefelter, an American endocrinologist, who first described this syndrome in 1942.

Symptoms

Symptoms of Klinefelter Syndrome can vary among individuals. Some common symptoms include:

• Infertility
• Small testes
• Gynecomastia (enlarged breast tissue)
• Hypogonadism (reduced function of the gonads)
• Learning disabilities
• Speech and language delays

Causes

Klinefelter Syndrome is caused by a chromosomal abnormality. It is not inherited, but rather, it occurs as a random event during the formation of reproductive cells (eggs and sperm) in a parent.

Diagnosis

Diagnosis of Klinefelter Syndrome can be made through a karyotype test, which is a laboratory procedure that analyzes the number and structure of chromosomes in a sample of cells.

Treatment

There is no cure for Klinefelter Syndrome, but treatments can help manage symptoms. These may include Testosterone replacement therapy, Speech therapy, Physical therapy, and Educational support.

Related Terms

• Chromosome
• Endocrinology
• Genetics
• Testosterone
• Therapy

External links

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

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