KS stands for Klinefelter syndrome. Klinefelter syndrome is the name for a maldistribution of the sex chromosomes. It only affects males and is characterized by an extra X chromosome. The severity of the symptoms is very variable. Treatment is therefore not necessary in all cases when Klinefelter syndrome occurs.
What is Klinefelter Syndrome?
If Klinefelter syndrome is suspected during adolescence, the doctor will arrange for a light microscopic chromosome count. This will also reveal whether one of the rare “mosaic cases” is present, the causes of which are unknown. See AbbreviationFinder for abbreviations related to Klinefelter syndrome.
The Klinefelter syndrome is a hereditary constitution based on a chromosome maldistribution, whereby the patients are exclusively men. The cell nuclei of those affected have a superfluous X chromosome, i.e. they have 2 instead of just a single X chromosome. Cases with 3 or 4 X chromosomes with an unknown cause are also described in the literature.
The X chromosome is the female element in sex determination. Klinefelter syndrome is part of the phenomenon of chromosome aberration or aneuploidy, as deviations from the average constellation are also called.
The concept of this genetic variation, sometimes also referred to as a hereditary disease, goes back to the American doctor Harry Fitch Klinefelter (1912 – 1990), who worked in Baltimore as an associate professor of medicine. In 1942 he was the first to describe the Klinefelter syndrome, which was later named after him.
The Klinefelter syndrome arises causally during the development of the germ cells. The time when the error occurs is meiosis, during which the double set of chromosomes is halved.
It can happen that an X chromosome does not reach its target cell in a physiogenetically “correct” way, but stays behind. The result is a germ cell with an excess X chromosome. Both the egg cells and the sperm, which contribute the Y chromosome in determining the sex of a man, can be affected.
Normogenetic egg cells have 1 X chromosome, normogenetic sperm either 1 X or 1 Y chromosome. The “Klinefelter ova” have the constellation XX, rarely also XXX or XXXX. The “Klinefelter sperm” have the following set of sex chromosomes: XY, XXY or XXXY. After the fusion of egg cell and sperm, the composition XXY (rarely also XXXY or XXXXY) results and leads to Klinefelter syndrome.
Symptoms, Ailments & Signs
The symptoms of Klinefelter syndrome can often only be noticed after puberty. Before that, they are usually very weak. The main symptoms of the condition are underdeveloped testicles and strikingly low testosterone levels. The sex hormone testosterone triggers puberty in healthy boys and ensures that the secondary sexual characteristics develop.
If there is a deficiency, these developments do not occur or take place much more slowly than in young people of the same age. Another prominent symptom is infertility. Depending on the severity, the onset of puberty can be greatly delayed. Those affected usually have little or no male body hair. The beard does not grow.
The voice pitch of adolescents with Klinefelter syndrome is high and hardly changes. Excessive breast development can occur in late puberty. The penis is noticeably small. Sometimes there is an undescended testicle. In general, sufferers tend to have a low libido. Symptoms such as tall stature, osteoporosis, reduced bone density, scoliosis, low muscle tone, exhaustion, fatigue or anemia often occur.
In childhood, some of those affected have cognitive impairments, delayed language development or motor skills disorders. This can lead to learning difficulties later on. In addition, those affected often experience dental problems such as misalignments or tooth decay.
Diagnosis & History
In Klinefelter syndrome, the testicles do not develop to the usual extent. This so-called “hypogonadism” also results in an insufficient release of the male-determining hormones.
This tends to lead to the development of secondary sexual characteristics that are usually attributed to women. Increased growth of the breasts, a wider pelvis and little body hair are characteristics of the affected men. Most of the time they are also not capable of procreation, although there are no disturbances in their sexual life. The symptoms are sometimes more, sometimes less pronounced, sometimes so subtle that they are never diagnosed or treated.
If Klinefelter syndrome is suspected during adolescence, the doctor will arrange for a light microscopic chromosome count. This will also reveal whether one of the rare “mosaic cases” is present, the causes of which are unknown. These variants are called “mosaic types” because only parts of the body are affected by the chromosomal anomaly. The result is an incompletely developed Klinefelter syndrome.
Klinefelter syndrome can lead to various symptoms and complications in the patient. In most cases, however, there is a strong tall stature, which mainly affects the legs and arms. The muscles of the affected person are also weakened, so that the patient’s resilience is reduced. This can also negatively affect the development of the child.
Motor development is also delayed, so that the affected person may be dependent on the help of other people in everyday life. It is not uncommon for patients to be irritable and suffer from severe mood swings. These can have a negative impact on the social environment and lead to severe complaints. Infertility also occurs and the man is unable to have children.
Men also suffer from only very slight beard growth, which can lead to inferiority complexes or reduced self-esteem. Klinefelter syndrome is often associated with psychological complaints. The treatment of Klinefelter syndrome takes place with the help of various therapies, although not all symptoms can be restricted. In most cases, it is not possible to predict whether there will be a reduction in life expectancy.
When should you go to the doctor?
Besteht der Verdacht, dass das Kind am Klinefelter-Syndrom leidet, sollte ein Arzt konsultiert werden. Symptome wie Hochwuchs, Muskelschwäche und kleine Hoden deuten auf eine ernste Erkrankung hin, die diagnostiziert werden muss. Der Mediziner kann feststellen, ob den Anzeichen das Klinefelter-Syndrom zugrunde liegt und gegebenenfalls direkt eine Behandlung einleiten. Eine frühzeitige Therapie ist essentiell, um einen schweren Verlauf mit bleibenden Schäden zu vermeiden.
For this reason, all abnormalities should be clarified quickly, especially visible deformities or behavioral problems. Children who withdraw from social life or are unusually irritable require medical and therapeutic treatment. The individual symptoms can usually be treated well if they are recognized and treated early. If psychological problems have already set in, treatment by a psychologist is indicated. Therapeutic support is also useful for the parents, since the disease can be an enormous burden in the long term. The right contact person is the family doctor or a specialist clinic for genetic diseases.
Treatment & Therapy
Men affected by Klinefelter syndrome usually suffer the most from the consequences of testosterone deficiency. The “male” hormone is therefore increased with medication in some patients. The doctor must also take into account that Klinefelter’s syndrome often leads to diabetes mellitus.
If necessary, he will arrange for an appropriate diet or medication. Osteoporosis is another complication of Klinefelter syndrome. The orthopaedist must devote himself to the consequences of the “softening of the bones”. The delayed language development that is diagnosed in some of those affected can be compensated for by early remedial instruction.
Psychological issues are also relevant in relation to Klinefelter syndrome. Because some of those affected suffer from a disturbed sense of identity with regard to their gender role. A psychotherapist offers suitable help here.
Social discrimination is expressed, for example, in some representations even in specialist literature. There, the Klinefelter syndrome is still attributed to an intellectual disability, which is not the case according to more recent studies. Educational work is required here to break down prejudices in relation to Klinefelter’s syndrome.
Outlook & Forecast
Klinefelter syndrome occurs exclusively in males. Since it is a chromosomal disorder, it is not possible to cure the disease. The patients see each other
Exposed to long-term therapy in order to achieve relief from symptoms. A lack of the hormone testosterone is found in the affected person. This must be compensated for over the entire lifespan in order for the symptoms to be alleviated. As soon as the hormone therapy used is discontinued on one’s own responsibility, a relapse of the symptoms is to be expected. If the administration of the hormone can be successfully implemented in the long term, the patients often report that they are free of symptoms.
Due to the syndrome, a secondary disease is usually diagnosed. This usually has a chronic course. When making a prognosis, the consequential disturbances must be taken into account. They worsen the overall condition and lead to increased stress for those affected. In addition to the physical impairments, emotional and mental tension is to be expected. This can have a negative impact on general well-being and thereby further deteriorate the patient’s health.
In severe cases, mental disorders occur that develop due to Klinefelter syndrome. If therapy is used, there is an improvement in the quality of life in most cases. However, many patients refuse to seek psychotherapy.
Due to its genetic causality, Klinefelter syndrome cannot be effectively prevented. At best, couples who want to have children should keep in mind that aneuploidy increases with increasing maternal age. This can also be observed in Klinefelter’s syndrome.
As a rule, the patient with Klinefelter syndrome has no special or direct options for aftercare, so that with this disease an early diagnosis with subsequent treatment should take place in the first place. Self-healing cannot occur in this case, although complete healing is usually not possible.
If you want to have children, a genetic test and counseling should always be carried out first to prevent the syndrome from recurring. The symptoms themselves are usually alleviated with the help of medication. It is important to ensure that the dosage is correct and that it is taken regularly. Parents should check that children are taking their medicines correctly.
A doctor can also draw up a nutrition plan to counteract the symptoms of Klinefelter syndrome. This plan should be followed, whereby a healthy lifestyle with a balanced diet has a positive effect on the further course of the disease.
Most sufferers also need psychological support. Loving and intensive discussions with the parents and relatives have an equally positive effect on the psychological state of the person concerned. As a rule, Klinefelter syndrome does not reduce the life expectancy of the person affected.
You can do that yourself
In Klinefelter syndrome, the possibilities for self-healing are severely limited. For this reason, those affected are primarily dependent on medical treatment in order to avoid further complications and symptoms.
Since the disease significantly increases the risk of diabetes in many cases, care should be taken to ensure a healthy lifestyle with a healthy diet and plenty of exercise. The respective diet can be prescribed by a doctor or a nutritionist. Exercise should be exercised in moderation and with caution as osteoporosis develops. The slowed down language development can also be alleviated by various training courses. The parents, above all, have to show initiative and can also promote this development with various exercises at home.
The psychological symptoms of Klinefelter syndrome do not always need to be treated immediately by a psychologist. Talking to other people affected or to close friends or family often helps. It can also alleviate inferiority complexes. Due to the intellectual disability, those affected are dependent on intensive and loving care. Above all, caring for people close to you has a very positive effect on the course of the disease.