Klinefelter’s Syndrome
Klinefelter’s syndrome refers to a genetic health condition that results from being born with an extra X chromosome. However, studies reveal that this syndrome, experienced in males occur randomly during the process of egg or sperm formation. Contrary to what some people think, the X chromosome is not inherited.
Men who develop this chromosomal condition usually show certain physical traits which are unusual for males. Considering the few cases of the condition, about 1 in 1,000 males, many people do not realize they have it and live normally. In fact, a number of males carry the condition with them undiagnosed until adulthood.
How Klinefelter’s Syndrome is caused
The extra X chromosome that a person with this condition has carries additional copies of genes. These genes cause an interference with the testicles, leading to various complications and effects on males.
This condition may vary from one individual to another, with some having mild and other severe effects. Females can also be born with an extra X chromosome, however, in their case it is called Triple X syndrome.
Symptoms of Klinefelter’s Syndrome
Considering the impacts of Klinefelter’s syndrome, it is always advisable that you know how to determine whether you have it or not. The following are some of the signs that you can rely on to know if you or someone close to you has the condition.
- Smaller testes, undescended tests or micro-penis
Those with Klinefelter usually have smaller testes that produce a less amount of testosterone. Testosterone is a hormone that controls the male sexual development before birth and in adolescence. This can cause delay or incompletion of puberty, enlargement of breasts, reduction in facial and body hair and infertility.
In some cases, some males with this condition may also experience genital differences or unusually smaller penises. This symptom is mainly visible in adolescent boys and men.
- Infertility in men
- Weak bones in both teenage boys and men
- Low sex drive in adult males
- Many boys and teenagers may also experience problems in reading, writing among other tasks that require cognitive abilities.
- Teenagers with this syndrome also find it hard to socialize or express their feelings.
In babies, the symptoms or signs of this condition might even be much harder to spot. However, there are a few things that may suggest your baby has the syndrome. The following are some of the symptoms of the condition in infants;
- Slow pace in crawling, sitting up and walking
- Starting to talk later than the usual age
- Quite and passive moods
- Low muscle power
Complications of Klinefelter’s syndrome
Apart from the symptoms outlined above, there are various complications or risks that come with this condition too. If not diagnosed and addressed, males with Klinefelter’s syndrome are at a risk of the following.
- Auto-immune disorders whereby the body’s immune system attacks the tissues.
- Lung diseases
- Blood vessel problems like varicose veins
Although men with this health condition are generally healthy, they have higher chances of developing the above complications.
How to Diagnose Klinefelter’s Syndrome
A health professional can suspect Klinfelter in a person through a physical examination of his genitals, chest, and blood and urine samples to reveal abnormal levels of hormones. However, confirmation can only be made after a genetic test, which entails checking the blood for an extra X chromosome.
Treatments for Klinefelter’s Syndrome
There is no known cure for Klinefelter’s syndrome since fixing the extra X chromosome is almost next to an impossibility. However, there are therapeutic measures and treatments that can help patients in living normal lives.
The following are some of the suggested treatments for those with this genetic condition;
- Therapy for testosterone replacement
- Educational support through educational psychology
- Speech and language therapy
- Emotional and behavioral support
- Infertility treatments also known as IVF
- Physiotherapy
Since it is not quite easy to determine whether one has Klinefelter’s syndrome or not, it would be advisable that you get confirmation from a professional health practitioner. Through the visit, you will be able to undergo diagnosis and know the exact health condition that you are suffering from for timely intervention.
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References
http://www.nhs.uk/Conditions/klinefelters-syndrome/Pages/Introduction.aspx
http://www.webmd.com/men/tc/klinefelter-syndrome-topic-overview
http://www.mayoclinic.org/diseases-conditions/klinefelter-syndrome/basics/symptoms/con-20033637
http://ghr.nlm.nih.gov/condition/klinefelter-syndrome