Table of contents:
- Characteristics of Klinefelter Syndrome
- Why it happens
- How to confirm the diagnosis
- How the treatment is done
Klinefelter syndrome is a rare genetic disorder that affects only boys and that arises due to the presence of an extra X chromosome in the sex 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 delay in the development of the penis, for example.
The diagnosis of Klinefelter syndrome is usually performed in adolescence or early adulthood, when all male characteristics are not noticed. Thus, to confirm the diagnosis, the doctor may recommend carrying out genetic and blood tests.
Although there is no cure for this syndrome, it is possible to start testosterone replacement therapy during adolescence, which allows many boys to develop more like their friends.
Characteristics of Klinefelter Syndrome
The main features of Klinefelter syndrome are:
- Testicles too small;
- Absence of sperm;
- Slightly bulky breasts;
- Wide hip;
- Few facial hair;
- Small size penis;
- Higher than normal voice;
These characteristics are easier to identify during adolescence, as this is when boys' sexual development is expected to occur. However, there are other characteristics that can already be identified from childhood, especially related to cognitive development, such as having difficulty speaking, delay in crawling, problems concentrating or difficulty expressing feelings.
Why it happens
Klinefelter syndrome occurs due to a genetic alteration that causes an extra X chromosome in the boy's karyotype, being XXY instead of XY.
Although it is a genetic alteration, this syndrome does not pass from parents to children and, therefore, there is no greater chance of having this alteration, even if there are other cases in the family.
However, in case of a history of Klinefelter syndrome or other genetic alteration in the family, it may be interesting to carry out genetic counseling to verify the possibility of genetic alterations. Understand how genetic counseling is done.
How to confirm the diagnosis
The diagnosis of Klinefelter syndrome is usually made in adolescence or early adulthood, when well-developed male characteristics are not identified. When the syndrome is suspected, the doctor may indicate the performance of a genetic test, known as cytogenetics, to evaluate the chromosomes, being identified, in the case of the syndrome, the presence of an extra X chromosome in the pair of sex chromosomes (XY).
In addition, blood tests may be performed to assess levels of hormones such as FSH and testosterone, as well as tests to assess sperm quality, which also helps confirm the diagnosis.
How the treatment is done
There is no cure for Klinefelter syndrome, but your doctor may advise you to replace testosterone, either through injections into the skin or the application of patches, 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 it can also be done in adults, mainly to reduce some characteristics such as breast size or high-pitched voice.
In cases where there is cognitive delay, therapy with the most appropriate professionals is advised. For example, if there is difficulty speaking, it is advisable to consult a speech therapist, but this type of follow-up can be discussed with the pediatrician.