Klinefelter’s syndrome: causes, symptoms and possible treatments

This syndrome affects males, who have XXY chromosomes instead of XY.

Genetic disorders are those caused by an alteration in the chromosome or genes. One of them is Klinefelter's syndrome, a syndrome that appears only in males.It is characterized by the fact that males have XXY chromosomes instead of XY.

This extra X causes different symptoms at different levels (physical, behavioral, personality...). In this article we will see what the syndrome consists of, what are its usual symptoms, its causes and possible treatments to apply.

Klinefelter syndrome: what is it?

Klinefelter syndrome is a genetic disorder that affects only males. It is caused by a random error in the chromosomes; specifically, an extra X is created in the male sex chromosomes. As a result, the male, instead of presenting XY, presents XXY, which leads to a number of characteristic signs and symptoms, such as smaller testicles and reduced or absent testosterone. This leads to a number of characteristic signs and symptoms, such as smaller testicles and reduced or absent testosterone..

This syndrome affects 1 in 500-1,000 babies born. In terms of risk factors, only the fact that the mother is over 35 years of age when she becomes pregnant is known to be a risk factor. However, it is a factor that only slightly increases the likelihood of Klinefelter syndrome.

Symptoms

The signs and symptoms of Klinefelter syndrome can vary greatly from person to person. Also, depending on the age range, the symptoms will be different. On the other hand, symptoms are often not detected until adolescence or adulthood.

Generally, the frequent symptoms caused by this syndrome are smaller than normal testicles and penis. In addition, in this case the testicles are firm. On the other hand, an enlargement of the breast tissue (gynecomastia) and weakness in the muscles and bones may appear.

These symptoms mentioned above appear in general in all ages, but we will see which are the typical symptoms of Klinefelter Syndrome. let's see what are the typical symptoms of Klinefelter's syndrome in each age group..

1. Birth

During birth and as infants, the usual symptoms of Klinefelter syndrome are some delays, especially in speech and motor development. Thus, these babies may take longer than usual to sit up, crawl and walk.

On the other hand, the aforementioned Muscle weakness appears, as well as testicles that do not descend into the scrotum. Behaviorally, they are usually babies who do not talk much and show a docile behavior.

2. Childhood and adolescence

As they get older, and especially during childhood and adolescence, other symptoms appear, such as altered puberty (which may be absent, delayed or incomplete).

Physically, they are taller than average height, with longer legs, a shorter torso and wider hips. Their penis and testicles are smaller, and they may also have gynecomastia (enlarged breast tissue).

As they get older, adolescents with Klinefelter syndrome may have less facial and body hair than adolescents their age.. Muscularly, they continue to show weakness; this weakness also appears in the bones.

On the other hand, they may have some kind of learning difficulties related to mathematics, writing, reading and/or spelling. Behaviorally, they tend to be somewhat apathetic children and adolescents, with low energy levels. In terms of their personality, they may have problems expressing their feelings or interacting with others, being generally shy and especially sensitive.

3. Adulthood

In adulthood, men with Klinefelter's syndrome continue to show the aforementioned muscular and skeletal weakness. continue to show the muscle and bone weakness already mentioned, as well as the symptoms of gynecomastia and small penis and testicles.. They also tend to be taller than usual. On the other hand, they continue to have less body and facial hair than expected. In addition, they present an increase of fat in the abdomen.

At this stage, however, the most characteristic symptom that usually worries people with the syndrome the most is the small amount of sperm they secrete, due to the decrease in the size of their testicles.

In some cases, they may not even secrete any sperm at all. This affects their fertility and makes it difficult for them to have children; however, with appropriate reproductive methods they can have children (for example with assisted reproductive techniques). Finally, adults with Klinefelter syndrome also have a hypoactive sexual desire, i.e. a low sexual desire.

Causes

As we have seen, Klinefelter syndrome is a genetic disorder caused by a random error in the chromosomes. That is, it is not a hereditary disorder (it is not transmitted from parents to children), but it is a genetic alteration.

Most people have 46 chromosomes (23 pairs of chromosomes), which contain our genetic material (DNA). DNA defines our phenotype (i.e. our physical, personality, behavioral characteristics, etc.); in other words, it shapes "who we are" and "what we are like". Of these 46 chromosomes, 2 are sex chromosomes; in most females, these two are XX, and in most males, these are XY (thus it is the Y that determines sex).

In the case of Klinefelter Syndrome, however, the genetic alteration causes affected males to be born with an "extra" X chromosome, and instead of having XY in their sex chromosomes, they have XXY.

Variants

On the other hand, there are three possibilities regarding the genetic alteration that we have mentioned as the cause of Klinefelter syndrome. Each of these three possibilities influences the manifestation of the symptoms of the syndrome:

1. involvement of all cells

A first possibility is that the "extra" X appears in all cells of the affected male. In this case, the symptoms will be more marked.

2. Involvement of some cells

A second possibility is that the "extra" X appears only in some of the person's cells. In this way, the symptoms would be milder. This would be called mosaic Klinefelter's syndrome.

3. More than one "extra" X

Finally, it can happen that instead of the "extra" X, more than one extra X appears. In this case, the chromosomes instead of being XXY, would be XXXY, for example. These are rare cases, which appear very infrequently. Logically, at the symptomatic level, the symptoms would be much more noticeable.

Treatment

There is no cure for Klinefelter syndrome, i.e. it is currently impossible to change the chromosomes of a child with Klinefelter syndrome.. However, it is possible to treat the symptoms that the syndrome produces. The treatment, in this case, should be multidisciplinary, involving psychology professionals, doctors, speech therapists, physiotherapists, etc.

There are different therapies that can be performed, depending on the signs and symptoms of each patient. Some of them are:

1. Testosterone replacement.

Testosterone replacement therapy is focused on stimulating the typical changes that appear during puberty.. This therapy can improve bone and muscle density, as well as stimulate the growth of body hair, enlarge the size of the penis and change the tone of voice to a deeper one.

However, it is not effective in treating fertility or increasing the size of the testicles.

2. Speech therapy

In cases where a delay in speech appears, speech therapy can be used to stimulate and facilitate the expression of oral language..

3. Physiotherapy

Physical therapy can help to improve the muscle weakness that is often associated with Klinefelter syndrome. which is often associated with Klinefelter's syndrome.

4. Psychology

In case there is a need for psychological assistancepsychological intervention will be focused on treating the personal and social difficulties of the child, adolescent or adult with Klinefelter Syndrome. On the other hand, infertility caused by the syndrome itself is a problem that especially affects men, so it should be addressed whenever the patient requires it.

5. Educational support

Finally, in the case of learning difficulties (as we have seen, something frequent), a good treatment option is personalized pedagogical re-education.. Different educational support strategies can also be used.

Bibliographical references:

• Pacenza, N., Pasqualini, T., Gottlieb, S., Knoblovits, P., Costanzo, Stewart, U., Rey, R., Martinez, M. and Aszpis, S. (2010). Klinefelter's syndrome across ages: multicenter experience. Revista Argentina de Endocrinología y Metabolismo, 47(4): 30-39.

• Rosenweig, M., Breedlove, S. and Watson, N. (2005). Psychobiology: an introduction to behavioral, cognitive and clinical neuroscience. Barcelona: Ariel.