Klinefelter Syndrome

What is Klinefelter Syndrome?

Quite simply put, Klinefelter Syndrome talks of men who instead of having the typical XY chromosomes, have an extra X chromosome. Thus, these males have an XXY chromosome structure.

This condition was first described by Dr. Harry Klinefelter in 1942. He was working as an endocrinologist at Massachusetts General Hospital in Boston, Massachusetts.

As such, Klinefelter Syndrome is seen in at least 1 male out of 500.

This syndrome is also termed as ‘XXY Syndrome’, or ‘XXY Condition’.

Causes Of Klinefelter Syndrome

The cause of Klienfelter Syndrome is the retention of the extra X chromosome during the process of cell division due to a non-disjunction event. This means that the X chromosome does not get disconnected from its counterparts during the cell division or meiosis (cell division) process.

Klinefelter Syndrome Symptoms

Not every male who possesses the XXY chromosome structure displays the symptoms of Klinefelter Syndrome. Or these symptoms may be present to a varying degree. The method of ascertaining the XXY chromosomal structure is via the use of Karyotype testing.

The symptoms of Klinefelter Syndrome are manifested mainly in the physical development of these males. XXY males usually have weak muscles and reduced strength. As babies, they may crawl, sit up and begin walking at a later age compared to normal babies. They begin to look taller at around age four, compared to normal children. However, they don’t have much of muscle control and co-ordination compared to other children.

When the XXY males enter puberty, they don’t make as much testosterone as other boys their age. Again this can cause increased height, less muscle body, and less facial and body hair. They can also have larger breasts, weaker bones and lower energy levels.

XXY men also have problems such as learning disabilities related to languages. They learn how to talk much late, and find it difficult to express themselves. They also have difficulties with reading.

These men tend to be very shy and undemanding as children. As they grow older, they are quieter and tend to have low self esteem. They have problems ‘fitting in’ with other boys their age because of their physical weaknesses.

As these males reach adulthood, they retain their tallness, but are now likely to have problems such as autoimmune disorders, breast cancer, osteoporosis, tooth decay and vein diseases.

Males with the XXY chromosome set can have normal sex lives, but 95 to 99 per cent of these men do not produce sperm at all and are infertile.

Treatment For Klinefelter Syndrome

Klienfelter Syndrome is a genetic condition, and as such there is no cure for the condition. However, different types of treatments are available which can help the males cope with their symptoms.

As children, these males can qualify to get special education and help from their teachers. The method of teaching should include the breaking down of larger tasks into smaller tasks so that the child can cope with and understand the lessons properly.

There are also a host of therapies available for speech, behavioral patterns, mental health, occupational therapies which can help reduce the problems with speech, low self confidence, and muscle tone and conditioning.

Testosterone Replacement Therapy (TRT) is also used to create normal testosterone levels in XXY males. This usually begins when the male reaches puberty, and can help build muscles, deepen the voice and grow facial and body hair.

Some males can also benefit from fertility treatments so as to help them father children. However, this is not possible in 95 to 99 per cent of the cases, as we have seen above, as they are infertile. This type of treatment can benefit only those who have a low sperm count.

The best practice to follow is to detect and begin the treatment for Klinefelter Syndrome as early as possible.