Klinefelter Syndrome: Symptoms, Causes, Diagnosis, and Treatment

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What is Klinefelter Syndrome?

Every living organism in the environment are suspected to many diseases. But there is a lot of difference between disease and a disorder. A disease is a kind of illness to due to any abnormality in the physiology of a body, which can be treated under medications.

But disorder is a condition where it cannot be treated easily with vaccines and medications where as it needs a special diagnosis of genetic material and other vital tests depending upon the symptoms. Klinefelter’s syndrome is a one type of genetic disorder due to an abnormality in a chromosome.

Reason of Klinefelter Syndrome

This is one of the types of genetic disorder which occurs in males. It occurs when there is extra X chromosome than usual.

We know that males have two sex chromosomes namely X and Y, the people who are suffering from this condition have an extra X chromosome along with it.

This condition can cause the affected male inappropriate physical characteristics that does not suit them.

Klinefelter’s syndrome is mostly found in one of 1000 males. Where the unwanted additional X chromosome results in the random error of formation of eggs or sperm in the affected individual.

It usually results in error in the formation of sperm and it also results in some complications in development of egg which leads to many abnormalities.

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Usually, this type of abnormalities in the chromosome can be found with the help of karyotype, Karyotype is usually done to identify the shape and size of the chromosomes with the help of the banding techniques.

With the help of this technique missing or abnormal or any additional chromosomes can be identified. Klinefelter’s syndrome is one of the types of disorder due to the presence of extra X chromosome in boys.

Cause of Klinefelter Syndrome

This condition is due to the presence of one extra X chromosome in males this occurs due to the splitting of genetic material unevenly during the formation of egg.

Women those who are getting pregnant above the age of 35 can have high probabilities of having the child with this condition.

Although it is said to be as genetic disorders this syndrome is not always carried between families.

Klinefelter Syndrome Characteristic

Klinefelter’s syndrome is one of the conditions which affects only male. The individual with this condition is affected with many intellectual activities.

Mostly the affected ones are taller comparing with the other individuals of the same group. They are also found to be infertile.

Anyhow there will be a similarity between boys and men in this syndrome, where as in some cases, the symptoms will be mild and cannot be diagnosed until puberty.

So, these types of syndromes cannot be diagnosed mostly at early stages or through amniocentesis.

The individual with this condition usually has smaller testes which also produces only smaller amount of testosterone.

This condition is also refereed to as primary testicular insufficiency. Testosterone is one of the most important hormones in males; which instructs the body cells to direct the primary and secondary sexual developments in male and also the other developments during the time of puberty.

If this is not diagnosed at the early stages it leads to shortage of testosterone which leads to delayed puberty, increase in breast size, decreased muscle tone, lack of body and facial hairs, reduced bone density.

Mostly the affected males will be sterile due to this condition but due to treatments and other therapies using reproductive technologies they can be improved.

Some of the affected males have difference in their structures of genitalia such as undescended testes which is called as cryptorchidism and the opening of urethra on the underside of penis and also the decrease in size of penis.

Children’s affected with this condition usually have other problems such as difficulty in brain co ordination which leads to delays in developing intellectual skills, and also in the development of motor skills such as sitting, standing and walking and also, they delay in other activities like speaking and learning.

But the individuals with this syndrome have better skills of language and understanding and they are usually good at vocabulary.

Along with this they also have other troubles like anxiety, depression, and other behavioral problems like emotional immaturity and impulsivity. In some cases, they will also be hyperactive.

Mostly half of percent of people with this syndrome have other metabolic disorders which includes the condition of type 2 diabetes, increased blood pressure, enlarged belly fat, high levels of lipids in the body such as triglycerides and cholesterols.

In other sense, on comparing with men adults with this syndrome have risks of developing cancers, weaking of bones, and other autoimmune disorders.

Does Klinefelter Syndrome Inheritary?

Generally, Klinefelter’s syndrome is not inherited, Because the addition of x chromosomes usually forms at the time of reproduction if any one of the parents has affected egg or sperm.

During the process of non-disjunction during cell division X chromosomes fails to separate normally among cells which results in extra copy of X chromosome and leads to this type of syndrome.

Considering the two results i.e., the egg cell having an extra chromosome gets fertilized with the sperm with Y chromosome causes this condition and similarly when the sperm cell having both X and Y chromosome gets fertilized with egg cell having one X chromosome can also leads to this condition.

Whereas another type of this which is known as mosaic Klinefelter’s syndrome which occurs due to a random cell division in the fetal development which leads to the normal copy of chromosomes in some of the cells and abnormal (XXY) in other cells.

Symptoms of Klinefelter Syndrome

The people with this condition usually have thin dispersed hairs, wide hips, enlarged breasts, small testes and smaller penis, reduced masculine features.

Treatment Options for Klinefelter Syndrome

There are various kind of treatments practiced for this kind of syndromes, however based on the signs and symptoms the treatment varies.

The treatments are as follows

 Fertility treatment

 Psychological counselling

 Removing the excess breast tissues

 Hormone replacement therapies

 Supporting them with educational evaluation.

Klinefelter Syndrome Citations


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