Klinefelter syndrome: characteristics and treatment

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 with XXY, causes changes in physical and cognitive development, generating significant characteristics such as breast enlargement, lack of hair on the body or delayed development of the penis, for example.

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 similarly to their friends.

Main features

Some boys who have Klinefelter's syndrome may not show any changes, however, others may have some physical characteristics such as:

• Very small testicles; Slightly bulky breasts; Wide hips; Few facial hairs; Small penis size; Voice higher 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 in speaking, delay in crawling, problems in concentrating or difficulty in expressing feelings.

Why Klinefelter syndrome happens

Klinefelter syndrome happens due to a genetic alteration that causes an extra X chromosome to exist in the boy's karyotype, being XXY instead of XY.

Although it is a genetic change, this syndrome is only from parents to children and, therefore, there is no greater chance of having this change, 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 sexual organs do not develop properly. Thus, to confirm the diagnosis, it is advisable to consult the pediatrician to do the karyotype exam, in which the sexual pair of chromosomes is evaluated, to confirm whether or not there is a XXY pair.

In addition to this test, in adult men, the doctor may also order other tests such as tests for hormones or sperm quality, to help confirm the diagnosis.

How the treatment is done

There is no cure for Klinefelter syndrome, but your doctor may advise you to replace testosterone by injections into the skin or by applying patches, which gradually release the hormone over time.

In most cases, this treatment has better results when it starts 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 the size of the breasts or the high-pitched voice.

In cases where there is 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.