Klinefelter syndrome is a rare genetic disease that only affects children and is caused by the presence of an additional X chromosome in the sex pair, this chromosomal abnormality, characterized by XXY, causes changes in physical and cognitive development, generating important characteristics such as breast enlargement., lack of hair in the body or delay in penis development, for example.
While there is no cure for this syndrome, testosterone replacement therapy may begin during adolescence, allowing many children to develop more similarly to their friends.
- Some children with Klinefelter syndrome may have no changes.
- However.
- Others may have certain physical characteristics such as:.
These characteristics are easier to identify during adolescence, as is the case when children’s sexual development should occur, however, there are other characteristics that can be identified from childhood, such as cognitive development, such as difficulty speaking, delayed crawling, concentration problems.or difficulty expressing feelings.
Klinefelter syndrome occurs due to a genetic alteration that results in the existence of an additional X chromosome in the child’s kariotype, YA SEA XXY instead of XY.
Although it is a genetic disorder, it only affects parents to children and therefore there is no more chance of developing this disorder, even if there are already other cases in the family.
Suspicions that a child may have Klinefelter syndrome usually occur during adolescence when the sex organs do not develop properly, so to confirm the diagnosis it is advisable to consult the pediatrician for the kariotype scan, in which the sex partner of chromosomes are evaluated, to confirm whether or not an XXY pair exists.
In addition to this test, in adult men, your doctor may also order other tests, such as hormone or sperm quality tests, to help confirm the diagnosis.
There is no cure for Klinefelter syndrome, but your doctor may recommend that you replace testosterone with injections into your skin or by applying patches, which gradually release the hormone over time.
In most cases, this treatment works best when it starts in adolescence, as this is the period during which children develop their sexual characteristics, but it can also be done in adults, mainly to reduce certain characteristics such as breast size or breast size.tone of voice.
In case of cognitive delay, it is advisable to have therapy with the most appropriate professionals, for example, if it is difficult to speak it is advisable to consult a speech therapist, but this type of follow-up can be discussed with the pediatrician..