Klinefelter Syndrome: Causes, Symptoms, and Possible Treatments

The genetic disorders They are those caused by an alteration in the chromosome or in the genes. One of them is the Klinefelter Syndrome, a syndrome that appears only in the male sex., and which is characterized by the fact that males have XXY chromosomes instead of XY.

This extra X causes different symptoms and at different levels (physically, behaviorally, 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 the male sex. It is caused by a random error in the chromosomes; specifically, an additional X is created on the male's 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 syndrome affects 1 in 500-1,000 babies born. As for risk factors, only one of them is known as the fact that the mother is over 35 years of age when she becomes pregnant. However, it is a factor that only slightly increases the probability of suffering from Klinefelter Syndrome.

Symptoms

The signs and symptoms of Klinefelter Syndrome can vary greatly from person to person. In addition, depending on the age group, the symptoms will be one or the other. On the other hand, symptoms often go undetected until adolescence or adulthood.

Generally, the frequent symptoms caused by this syndrome are smaller than normal testicles and penis. Also, 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 mentioned symptoms appear in general at all ages, but We are going to see what are the typical symptoms of Klinefelter Syndrome in each age group.

1. Birth

During birth and when they are babies, 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 muscular weakness appears, as well as some testicles that do not descend into the scrotum. At the behavioral level, they are usually babies who do not talk much and who present a docile behavior.

2. Childhood and adolescence

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

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

when they grow up, adolescents with Klinefelter Syndrome may have less facial and body hair than adolescents their age. At the muscular level they continue to present weakness; this weakness also appears in the bones.

On the other hand, they may have some type of learning difficulty related to mathematics, writing, reading and/or spelling. At the behavioral level, they are usually somewhat apathetic children and adolescents, with low energy levels. Regarding their personality, they may have problems expressing their feelings or interacting with others, being generally shy and especially sensitive.

3. Adulthood

By the time of adulthood, men with Klinefelter Syndrome they continue to present the aforementioned muscle and bone weakness, as well as the symptoms of gynecomastia and small penis and testicles. They are also usually taller men than usual. On the other hand, they continue to have less body and facial hair than expected. In addition, they present an increase in fat in the abdomen.

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

In some cases, it is even possible that they do not secrete any sperm at all. This affects their fertility and makes it difficult for them to have children; however, with adequate reproduction methods they can have them (for example with assisted reproduction techniques). Finally, adults with Klinefelter Syndrome also have a hypoactive sexual desire, that is, 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 of us have 46 chromosomes (23 pairs of chromosomes), which contain our genetic material (DNA). DNA defines our phenotype (ie, our physical, personality, behavioral characteristics, etc.); that is, it configures “who we are” and “how we are”. Of these 46 chromosomes, 2 are sexual; in most women these two are XX, and in most men these are XY (Therefore it is the Y that determines the sex).

In the case of Klinefelter Syndrome, however, the genetic alteration makes affected males are born with an “extra” X chromosome, and instead of presenting XY on their sex chromosomes, they present XXY.

variants

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

1. Affectation of all cells

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

2. Affectation of some cells

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

3. More than one “extra” X

Finally, it may happen that instead of the “extra” X appearing, more than one extra X appears. In this case, instead of being XXY, the chromosomes 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

Klinefelter Syndrome has no cure; that is, at present it is impossible to change the chromosomes of a child with Klinefelter Syndrome. However, the symptoms that the syndrome produces can be treated. The treatment, in this case, should be multidisciplinary, using 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 lower the tone of voice.

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

2. speech therapy

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

3. Physiotherapy

Physical therapy can help improve muscle weakness which appears frequently associated with Klinefelter Syndrome.

4. Psychology

In case there is a need for psychological assistance, the psychological 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 must be addressed whenever the patient requires it.

5. pedagogical support

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

Bibliographic references:

• Pacenza, N., Pasqualini, T., Gottlieb, S., Knoblovits, P., Costanzo, Stewart, U., Rey, R., Martinez, M. and Aszpis, S. (2010). Klinefelter syndrome at different ages: multicenter experience. Argentine Journal of Endocrinology and Metabolism, 47(4): 30-39.

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