Klinefelter syndrome is a rare genetic disorder that affects only boys and arises due to the presence of an extra X chromosome in the sexual pair. This chromosomal anomaly, characterized by XXY, causes changes in physical and cognitive development, generating significant characteristics such as breast enlargement, lack of body hair or delayed development of the penis, for example.
Although there is no cure for this syndrome, it is possible to initiate therapy with testosterone replacement during adolescence, which allows many boys to develop more similarly to their friends.
Main features
Some boys who have Klinefelter syndrome may not show any change, however, others may have some physical characteristics like:
- Very small testes;
- Breasts slightly bulky;
- Large hips;
- Few facial hair;
- Small penis;
- Voice more acute than normal;
- Infertility.
These characteristics are easier to identify during adolescence, as it is when boys' sexual development is expected to occur. However, there are other characteristics that can already be identified since childhood, especially related to cognitive development, such as having difficulty speaking, delaying crawling, problems concentrating or difficulty expressing feelings.
Why Klinefelter syndrome happens
Klinefelter syndrome occurs due to a genetic change that causes an extra X chromosome to exist in the boy's karyotype, being XXY instead of XY.
Although it is a genetic alteration, this syndrome is only parents to children and, therefore, there is no greater chance of having this alteration, even if there are already other cases in the family.
How to confirm the diagnosis
Usually suspicions that a boy may have Klinefelter's syndrome arise during adolescence when the sex organs do not develop properly. Thus, to confirm the diagnosis, it is advisable to consult the pediatrician for the karyotype examination, in which the sex pair of the chromosomes is evaluated, to confirm whether or not there is a XXY pair.
In addition to this examination, in adult men, the doctor may also order other tests such as hormone tests or sperm quality to help confirm the diagnosis.
How is the treatment done?
There is no cure for Klinefelter syndrome, but the doctor may advise testosterone replacement through skin injections or the application of adhesives, which gradually release the hormone over time.
In most cases, this treatment has better results when it is started in adolescence, as it is the period in which boys are developing their sexual characteristics, but can also be done in adults, mainly to reduce some characteristics such as breast size or sharp tone of voice.
In cases where there is cognitive delay, therapy with the most appropriate professionals is advised. 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 your pediatrician.
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