A male is said to be suffering from Klinefelter’s syndrome when he has an extra X chromosome in most of his cells. Normally, women have XX chromosomes and men have the XY chromosome. But some men develop an extra X chromosome. So their genetic data can be described as XXY. There is enough evidence to show that at least one in 1000 men have this chromosome disorder. However, not all men who have the XXY chromosome disorder have Klinefelter’s syndrome. But all men with Klinefelter syndrome have the XXY chromosome disorder.
Women who get pregnant after the age of 35 are more likely to have babies with Klinefelter’s syndrome.
Physical Impact
- Klinefelter’s Syndrome often goes undiagnosed in the early stages. It’s only detected when a child fails to show some of the normal signs of puberty like lack of facial hair or deepening of his voice.
- Most men with Klinefelter Syndrome will be extremely tall.
- The body proportions are abnormal. Most Klinefelter Syndrome males have long legs, short trunk and wide shoulders. In fact the shoulder width often equals the hip width.
- Such men will also have abnormally large breasts. The condition is known as gynecomastia. Sometimes, it’s bad enough for affected men to consider cosmetic surgery.
- Such men will have extremely small firm testicles and very little hair in the pubic area.
Physiological Impact
At least 95 to 99 per cent of men who have Klinefelter syndrome are infertile. In fact, the most common way the syndrome is detected is when infertile men consult their doctors. That’s when tests trace their infertility to the Klinefelter Syndrome. The condition causes decreased testicular function and therefore a low serum testosterone level.
The Klinefelter Syndrome has an impact on the overall health of men. They are more likely to develop breast cancer, tooth decay and autoimmune diseases. One of the complications of the syndrome is the development of enlarged, thin teeth. This is known as taurodontism.
Behavioral Impact
As children a whopping 80 per cent of boys affected by the syndrome have language problems. They find it difficult to express themselves because of difficulties in learning a language. Reading skills are often poor and they have trouble processing what is told to them. As a result of these learning problems, most children tend to be shy and they have difficulty in fitting in with their surroundings.
However, as adults, most men with the syndrome lead successful lives with families. They develop a social circle and are able to have successful careers.
Diagnosis
The tests used to diagnose Klinefelter’s Syndrome include karyotyping and semen count. Blood tests to check levels of hormones are recommended. The levels of estrogen, testosterone, luteinizing hormone and follicle stimulating hormone are checked before making the diagnosis.
Treatment
- There is no way that genetic disorders can be reversed. But testosterone therapy is often prescribed. This helps to counter some of the symptoms. The therapy will help in the growth of facial and body hair, give the body more muscles, increase energy, sex-drive and strength, and improve concentration levels. All this will have a positive impact on the self-esteem of the individual.
- Since Klinefelter’s Syndrome males are often infertile, they will have to opt for fertility treatments in order to have children. With rapid developments in the area of fertility medicine, there is a greater chance that such men will be able to father children. There are reports that until now 100 men with the syndrome have had successful fertility treatments. The treatments used IVF technology by using surgically removed sperm material from the men.
- Since males with Klinefelter’s Syndrome have behavioral and learning problems, occupational and educational therapies may be considered. This will help them to cope with the condition in a better way. Teachers must consider the special education need of children with the syndrome. Occupational, speech, physical and mental therapy can reduce or eliminate symptoms like poor muscle tone, learning and speech problems.
There is very little information that is available about the Syndrome. As a result, doctors who have patients with the syndrome often have to work out a plan that suits each individual.
