Klinefelter Syndrome

Klinefelter Syndrome
Klinefelter disorder is a condition that affects only males. It was discovered by a doctor in Philadelphia called Harry Klinefelter, in 1942. He treated nine men who had breastdevelopment and no sperm in their semen.
Males normally have an X chromosome and a Y chromosome (XY), but men with klinefelter syndrome have an extra X chromosome (XXY). Therefore, instead of havingthe normal 46 chromosomes, patients with this disorder have 47.
Many scientists have studied this syndrome and have shown that the possibility of a newborn with the disease increases accordingly tothe age of the parents. Women who get pregnant after the age of 35 are more likely to have children with klinefelter syndrome. Nevertheless, boys with this syndrome do not get the disease from theirfather as they can have normal chromosomes themselves. This abnormality occurs during meiosis, during separation of chromosome pairs.
Most men do not realize they have this disease until puberty oradulthood. The most common symptoms are small testes that do not produce testosterone. A shortage of this hormone can lead to gynecomastia, which is breast enlargement, short amount of pubic, armpitand facial hair and infertility. Also, boys with klinefelter syndrome are taller than usual, abnormal body proportions such as long legs and short trunk. Besides, they can even have difficulties withreading, writing or language problems; however, these disabilities are not categorized as mental retardation.
This disease is usually diagnosed when the patient comes to the doctor because ofinfertility. The doctor will then perform karyotyping, which is a test that counts the number of chromosomes in a sample of cells, or blood tests to examine the levels of testosterone.
The most commontreatment for this genetic disease is testosterone injection. This therapy can help to the growth of body hair, improve the appearance of muscles, energy, sex drive and concentration.
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