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Klinefelter’s syndrome (also known as 47, XXY or hypergonadotrophic hypogonadism) is an inherited disease that occurs in men who have genetic material with an extra X chromosome in all or only some of the body’s cells. Instead of having 2 sex chromosomes – one X and one Y chromosome, as is the case in a healthy male, people with Klinefelter syndrome have three sex chromosomes – 2 X chromosomes and one Y chromosomes. Scientists believe that 47, XXY syndrome is one of the most common disorders chromosomal changes occurring in humans. The underlying cause of the symptoms of this disease is low blood testosterone levels, accompanied by high levels of gonadotrophins (mainly FSH).
Even though every male affected by this syndrome has an extra X chromosome, not everyone has all of the symptoms listed below. Moreover, the severity of these symptoms depends on the number of cells with the abnormal number of chromosomes, the level of testosterone in the body, and the age at which the disease is diagnosed.
The symptoms of Klinefelter’s syndrome concern three basic areas of development:
- Physical,
- Speech,
- Social.
Klinefelter Syndrome – Physical development
In childhood, muscle tension and strength are often weakened. Affected babies may begin crawling, sitting down and walking independently later than healthy babies. After age 4, boys with Klinefelter syndrome tend to be taller and often have poor coordination. When they reach puberty, their bodies do not produce as much testosterone as healthy people. This can lead to weaker musculature, less facial and body hair. During adolescence, boys may also have enlarged breasts (gynecomastia) and increased bone fragility.
By the time they reach adulthood, men with the syndrome may appear similar to healthy individuals, although they are often taller than others. In addition, they are more likely to develop autoimmune diseases, breast cancer, venous diseases, osteoporosis and tooth decay.
After puberty, the most common symptoms of people affected by Klinefelter syndrome are:
– high growth,
– pale skin,
– poorly developed muscles (the so-called eunuchoid body structure),
– scanty body hair: weak facial hair, pubic hair of the female type around the external genitalia,
– small testicles with proper penis structure,
– decreased libido,
– bilateral gynecomastia.
Men with Klinefelter syndrome can lead a normal sex life. However, due to the fact that their bodies can only produce little or no sperm, 95 to 99% of them are sterile.
Klinefelter syndrome – Speech
In the boyhood period, 25 to 85% of people with Klinefelter syndrome have speech problems. They start to utter their first words later than their peers, have problems verbally expressing their needs and thoughts, as well as reading and processing the information they hear. As adults, they find it harder to complete their reading and writing tasks, but most of them work and achieve success in their working lives.
Klinefelter syndrome – Social life
In childhood, children with Klinefelter syndrome are usually quiet and do not absorb the attention of people around them. Later, they may be less self-confident and active, and show greater willingness to help and obey than their peers.
During adolescence, boys are shy and quiet, which is why they can often have problems “fitting in” to their peer group.
Upon reaching the age of majority, they lead a normal life, start families and have friends. They are capable of entering into normal social relationships.
Klinefelter’s syndrome – Can this disease be treated?
Klinefelter’s syndrome is congenital and therefore cannot be cured. However, it is possible to alleviate its symptoms. For this purpose, numerous therapies are used, including physical, verbal, behavioral, psychotherapy and family therapies. Sometimes they help to alleviate symptoms such as weakened muscle tension, speech problems or low self-esteem. Pharmacotherapy is reduced to the use of testosterone replacement therapy (TRT). It allows you to restore the level of this hormone in the blood to normal values, which in turn allows the development of muscles, lowering the voice, and the development of more abundant hair.
One of the most important factors determining the effectiveness of treatment is the early moment of its implementation.
Do you know that:
If a factor that damages spermatogenesis (the process of sperm formation) acts on the testes of a born boy, the so-called the alleged Klinefelter syndrome. The symptoms are identical to the true Klinefelter syndrome discussed above, but the karyotype test does not reveal the presence of an extra X sex chromosome.
Text: MD Matylda Mazur
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