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Klinefelter Syndrome

What is Klinefelter Syndrome?

Klinefelter syndrome is a chromosome abnormality that affects only men. People with Klinefelter syndrome are born with at least one extra X chromosome. The male with Klinefelter Syndrome will be born with 47 chromosomes in each cell, rather than the normal number of 46. Klinefelter Syndrome is also called 47 X-X-Y syndrome.

Some Klinefelter patients have 48, 49, or 50 chromosomes. All of the extra chromosomes are Xs. Males with several extra X chromosomes have distinctive facial features, more severe retardation, deformities of bony structures, and even more disordered development of male features.

What are Chromosomes?

Chromosomes are found in every cell in the body. Chromosomes contain the genetic makeup of your body. Chromosomes also determine whether the child will be male or female. Usually, a person has a total of 46 chromosomes in each cell. Two of the chromosomes are responsible for determining that individual's sex. These two sex chromosomes are called X and Y. The combination of these two types of chromosomes determines the sex of a child. A female has two X chromosomes. A male has one X and one Y chromosome.

What Causes Klinefelter Syndrome?

Keinfelter's syndrome is caused by an extra X chromosome and affects only males. An infant with Kleinnfelter's Syndrome appears normal at birth, but the defect usually becomes apparent in puberty when secondary sexual characteristics fail to develop, and testicular changes occur that eventually result in infertility in the majority of those affected.

In mild cases, no abnormalities will be present. However, the individual will be infertile.

What are the Symptoms of Klinefelter Syndrome?

Some of the symptoms are: small penis, small firm testicles, diminished pubic, axillary, and facial hair
sexual dysfunction, enlarged breast tissue , tall stature, abnormal body proportions (long legs, short trunk), learning disabilities, personality impairment, and a single crease in the palm.

How is Klinefelter Syndrome Diagnosed?

There are many tests available to diagnose Klinefelter Syndrome. Some of the tests are: physical examination (rectal exam) may show an enlarged prostate; karyotyping showing 47XXY, semen exam showing low sperm count, and a decreased serum testosterone level.

Can Klinefelter Syndrome be Treated?

Unfortunately, there is no treatment available to change chromosomal makeup. However, some of the symptoms: delayed puberty and decreased sexual drive can both be treated.

Medical Complications of Klinefelter Syndrome

Some of the medical complications from Klinefelter Syndrome are: an increased risk of developing breast cancer, pulmonary disease, varicose veins, osteoporosis, Aicardi syndrome, and lung disease.

Klinefelter Syndrome Statistics

  • About 1 in every 1,000 infant boy is born with some variation of Klinefelter Syndrome.

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