Klinefelter’s Syndrome is a genetic condition that affects about one in 650 men and is present from birth. Men with Klinefelter’s Syndrome have an extra X chromosome which can come from either parent.
The normal male chromosome arrangement is 46XY, but men with Klinefelter’s Syndrome have 47XXY.
Klinefelter’s Syndrome is the most common cause of inability to produce both sperm and testosterone.
Testosterone is the hormone that is responsible for the development of male characteristics
such as hair and beard growth, penile growth, muscle gain, bone strength and fat distribution. The inadequate production of testosterone in men with Klinefelter’s Syndrome affects the development of these male characteristics.
Men with Klinefelter syndrom are infertile as they have almost always no sperm in their ejaculate (azoospermia).
The main characteristic of Klinefelter syndrom is small testes (1 – 4 ml). The diagnosis is confirmed
by using chromosome analysis (karyotype). Blood levels of FSH are usually raised indicating damage to the sperm producing tubes in the testes.
Most men with Klinefelter syndrom (as many as three quarters of the them) are not diagnosed and
so remain untreated for life. The reasons for the under-diagnosis of this condition vary. Doctors may
not routinely check testicular size. These men may be unaware of how small their testes are and they may not think anything is wrong. Other men may be too shy or embarrassed to approach a doctor if concerned about the size of their testes.
The signs and symptoms of Klinefelter’s Syndrome include:
• Small testes;
• Breast enlargement;
• Taller than average height;
• Fat accumulation on abdomen and hips;
• Reduced facial and body hair and
decreased shaving frequency;
• Reduced libido;
• Poor erections;