What is Klienfelter Syndrome?

Klinefelter syndrome is where there is presence of an extra X chromosome in a male.

 Some of the symptoms of Klinefelter Syndrome include:

  • Infertility (which is the most common symptom) 
  • Abnormal body proportions (long legs, short trunk, shoulder equal to hip size)
  • Enlarged breasts (gynecomastia)
  • Sexual problems
  • Less than normal amount of pubic, armpit, and facial hair
  • Small, firm testicles
  • Small penis
  • Tall height
  • One main treatment that may be prescribed is testosterone therapy which can help:

  • Grow body hair
  • Improve appearance of muscles
  • Improve concentration
  • Improve mood and self esteem
  • Increase energy and sex drive
  • Increase strength
  • It is also said that most men with that have Klinefelter Syndrome are not able to reproduce, but with the help of a fertility specialist, some men are able to.

    The cause of Klinefelter Syndrome is humans have 46 chromosomes and all chromosomes contain all of your genes and DNA, the building blocks of the body. The two sex chromosomes determine if you become a boy or a girl. Females normally have two of the same sex chromosomes, written as XX. Males normally have an X and a Y chromosome (written as XY).

    Klinefelter syndrome is one of a group of problems in the sex chromosome. It results in males who have at least one extra X chromosome. Usually, this occurs due to one extra X (it is written as XXY).

    Klinefelter syndrome is found in about 1 out of every 500 - 1,000 newborn males. Women who become pregnant after age 35 are slightly more likely to have a boy with this syndrome than of a younger woman.

    There are a few tests that can be performed to check to see if a person has Klinefelter Syndrome.  Those tests include:

    • Karyotyping
    • Semen count
    • Serum estradiol levels (a type of estrogen)
    • Serum follicle stimulating hormone
    • Serum luteinizing hormone
    • Serum testosterone

    There are some complications that have been linked to Klinefelter Syndrome, they include:

    Even though the diagonosis seems negative, the prognosis is not.  The good news is that most patients live to have a normal, productive life.