Klinefelter syndrome is a rare genetic alteration that only affects men and is caused by the presence of an additional X chromosome in the sexual partner, this chromosomal abnormality, characterized by XXY, causes alterations in both physical and cognitive development, generating important characteristics such as the enlarged breast, lack of hair in the penis, delayed penile development For example.
There is no cure for this syndrome yet, it is possible to initiate testosterone hormone replacement therapy during adolescence, this allows many children to develop in a more similar way to their peers.
- Some children with Klinefelter syndrome may not have any alterations.
- However others may have certain physical characteristics such as:.
These characteristics are easier to identify during adolescence, as children’s sexual development should occur, however, there are other characteristics that can be identified from childhood, including cognitive development, such as difficulty speaking, delays in triggering, trouble concentrating, difficulty expressing themselves. Feelings.
Klinefelter syndrome is due to a genetic alteration that has an additional X chromosome in the type of kidney, being XXY instead of XY.
In the case of a genetic alteration, this syndrome in the past from priests to children and, therefore, in the highest probability of having this alteration, there are still other cases in the family.
Suspicions that a child might have Klinefelter syndrome usually appeared during adolescence when the sex organs did not develop properly, so to confirm the diagnosis it is advisable to consult the pediatrician for the kariotype test, as they are evaluated by the pair of sex chromosomes, to confirm if there is no XXY pair.
In addition to this test, in adult men, your doctor may order other tests, such as hormone hormones or sperm quality, to help confirm the diagnosis.
There is no cure for Klinefelter syndrome, but your doctor might recommend hormone replacement of testosterone, by injections by applying adhesives, as you gradually release the hormone over time.
In most cases, this treatment works best when it is started in adolescence, as this is the period in which men develop their sexual characteristics, but it can also be successful in adults, mainly to reduce certain characteristics like this. high pitch of voice.
In case of cognitive delay it is advisable to perform therapy with the most inappropriate professionals, for example, if it is difficult to speak it is advisable to consult a language therapist, but this type of follow-up can be discussed with the pediatrician. .