The Klinefelter syndrome definition says that Klinefelter syndrome is a disorder commonly found in men. This syndrome is caused when a baby of the male sex has taken birth with an excess of X chromosomes that needed.
In simple words, the Klinefelter syndrome meaning is that males usually are born with an X chromosome and a Y chromosome. However, the excess of the X chromosome can lead to attributes considered unsuitable in males.
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This syndrome usually only occurs in 1 out of 1000 males. The addition of the undesired X chromosomes is generally caused by an accidental blunder caused in the development of the egg or the sperm.
Usually, this accident takes place in the development of the sperm, while other times, this blunder is the cause of complexities in the formation of the egg. Women who conceive post 35 are said to be at a higher risk of giving birth to a baby ailed with this Klinefelter syndrome.
This presence of excess X chromosomes within a male occurs when there is an uneven distribution of the genetic material within the egg. The same can also happen within a sperm. Even though this is a genetic disorder, unlike many other genetic disorders, this does not pass down to other family members.
When you can get a whole picture portraying the person's chromosomes, that is called Karyotype. If there happens to be any alteration in the Karyotype can result in abnormal behaviour within the chromosomes and, therefore, causing Klinefelter syndrome. However, this syndrome is just one of the many other side effects of this change in Karyotype. There are many more peculiarities caused due to the existence of excess X chromosomes within males. For example - Mendelian disorders being another such abnormality.
Even while looking at a male who is suffering from the Klinefelter syndrome, you may not observe any such symptoms which might distinguish him; there are some symptoms that set them apart. For example- erratic and sparse distribution of hair all across the body, broad and wider hips, and you may also notice an amplified breast size. The testicles also remain small, and in some, the penis may not see an increase and transition to the adult size.
There are numerous treatments available for those who are suffering from this disorder. This treatment caters to the patient's requirements based on the symptoms he portrays. This treatment offers -
Removal of excess breast tissue.
Hormonal Replacement Therapy.
Support and Educational evaluation.
Those who are suffering from Klinefelter syndrome are provided with testosterone. This is a hormone found in males and can be injected for increasing the physical and sexual attributes in the man. If this treatment is provided at an early and appropriate age, it can help those suffering have an improved and suitable body growth.
This testosterone can be injected with the help of a gel or with a skin patch. Even though this treatment suffices all along with a man's life, it does not improve fertility. The boys who are suffering from speech impairment can be assisted using different forms of speech therapy to help them with their problems in speaking.
A male can have his sperm collected with the help of testicular sperm extraction, also known as TEST, if he wants to procreate. As the name suggests, the sperms are extracted using a sanitized needle which is injected into the testicle, or by forming a small incision in the testicle. They locate normally behaving sperms, which is then used in vitro fertilization.
When a male baby or toddler is suffering from the Klinefelter disorder, unlike the other babies, they take a longer time to learn how to walk, talk, sit, crawl. They are way calmer, quieter than babies should normally be.
During the growing up period, they may suffer from phases of doubting their self-esteem and being under-confident. They may be extremely passive and shy and have problems in understanding and comprehending words, which leads to reading, writing, and spelling problems. They could show similar symptoms to that of dyslexia or dyspraxia.
In the adolescent period, they may be way taller than usual. They may have extremely long arms, wide hips, poor muscle growth, scanty body hair, an unusually small penis, and testicles and amplified breast size.
When they grow into adults, they have poor fertility and are not very sexually active.
1. How to Get Tested For Klinefelter Syndrome?
Your doctor will be required to execute an exhaustive examination on your past and also a physical examination. He will then ask you in-depth questions related to the observation of various symptoms and attributes. He will then perform a test to examine your hormones and chromosomes, as they are the two most important determinants of the Klinefelter syndrome. These hormonal examinations are blood tests that can portray unusual hormonal activities and, therefore, an indication of the syndrome. When the doctor is performing the analysis on the chromosomes, your blood sample will be sent to the laboratory for further examination of the chromosome levels and the attributes.
2. Can Klinefelter Syndrome Lead to Cancer?
Unlike the rest of the male population, men suffering from this disorder are more susceptible to acquiring breast cancer and are at higher risks of getting non-Hodgkin lymphoma and lung cancer. There are, however, few precautionary measures one can take to lessen the risk. This includes the complete elimination of breasts and avoiding any consumption of products containing tobacco. However, such men have lower chances of acquiring prostate cancer.