Kleinfelter's Syndrome- What is it?

Klinefelter's syndrome is a genetic abnormality that affects only males. Named after an American physician, Harry Klinefelter in 1942, Klinefelter's syndrome affects approximately 1 per 1,000 males, making it a very common genetic abnormality.

Chromosomes are genetic material and a person's sex is determined by X and Y chromosomes. Males usually have one X and one Y chromosome (XY). Males with Klinefelter's syndrome have extra X chromosome (XXY).

Althought the extra sex chromosome is common the syndrome itself, its signs and symptoms, are not. Most men with an extra X chromosome never realize they have an additional chromosome.

Causes of Klinefelter's Syndrome

Women who have babies after the age of 35 have a slightly higher incidence of Klinefelter's Syndrome.

Signs Symptoms of Klinefelter's Syndrome

Infertility. This symptom is often the one that brings the man with Klinefelter's syndrome to the attention of his doctor. Men with Klinefelter's do not produce sperm

Enlarged breasts-gynecomastia

Small firm testicles

Small penis

Sparse facial and body hair

Abnormal body proportions. A tendency to long legs and a short trunk.

 

Test for Klinefelter Syndrome

Genetic tests will show the presence of an extra X chromosome.

Treatment for Klinefelter's Syndrome

Klinefelter's syndrome may be identified in adolecense when the testes do not develop when they should. Testosterone therapy can have a number of positive effects although most men with Klienfelter's are never able to father a child. However testosterone can improve sex drive, promote hair growth, increase muscle strength.