Klinefelter Syndrome : Causes, Symptoms and Treatment

The role of genes is beyond any measures in everybody’s life as from hair colour to structure of physique, every little thing of the body part is influenced by them. Genes being created out of chromosomes refer to the fact that female body has two X chromosomes and the male body has only one X chromosome and Y chromosome. However, if a male body consists of an extra X along with XY chromosome, he then might be undergoing the physical condition, namely, Klinefelter syndrome.

Background of Klinefelter Syndrome

Source : wiki
Klinefelter Syndrome : Causes, Symptoms and Treatment 1

During the final period of 20th Century, sections of sociology, psychology, linguistics and anthropology began to unearth the queries regarding sexuality, gender and the power relationships related to them. Sex was found to be a biological trait; whereas, gender was more of a social characteristic depending on the individual self.

The initial stage of the 1940s, influenced Dr H. F. Klinefelter to start finding out a psychological distress among men that occurred due to eunuchoidism, sterility and small-sized penile length. Following the publications of Dr Klinefelter, Jacobs and Strong found the existence of an additional X sex chromosome in male cells. Over the course of time, researchers and doctors have found the significant truth 80% of the male population undergoing Klinefelter syndrome had an additional X sex chromosome that led to leaving an impact on social, psychological, behavioural and physical development from boyhood to adulthood.

Frequency of KS

KS is seen to affect one in five hundred to one thousand newborn male babies around the world. 5% of cases are detected that were seen in resulting in death and at present, 80% of the patients have the 47XXY karyotype.

People diagnosed with the disorder have 10% chances to develop autism spectrum and there is no usual sign during pregnancy that can lead to detection of the disorder. In addition to the context, by the age of eight, boys with KS seem to be taller than 60% children of their age group. However, there is no need for you to fret as the disorder does not have the capability to disrupt usual life expectancy of a man.

What Causes the Syndrome

An abnormal number of X chromosome is to be blamed for the early development of the physical condition that triggers certain sets of problems in the human bodies. It has been observed that over 50% embryos do not have the capacity to survive during the foetal period leading to the development of Klinefelter.

  • Klinefelter syndrome occurs as an unspecified event at the time of forming eggs and sperm, known as reproductive cells. The problem in the cell division or nondisjunction shows the outcome generating extra X chromosome.
  • It is often predicted that women who conceive children after the age of 35 triggers the chances of the syndrome among the male offspring.
  • The development of mosaic Klinefelter takes place if your body has regular sets of male chromosomes along with an additional X chromosome.
  • If you have more than one additional X chromosome in your body, you might be suffering from a rare and complicated case of the particular syndrome.
  • The physical condition is not observed to be an inherited syndrome.

It is seen that 99% people suffer from infertility and small infertility due to KS and 90% suffer from an increase in levels of gonadotropin. 60-65% of male population is seen to have decreased testosterone level and 60% of people are seen to undergo the condition of decreased facial hair. Moreover, 50%-75% have gynecomastia and 30%-60% of people have decreased pubic hair.

Usual Symptoms to be Found

Over the years the medical researchers have found that the symptoms of Klinefelter syndrome vary from person to person. One may undergo severe physical problems; on the contrary, one may be mildly affected by the disease. However, the disease shows different signs and symptoms during the physical development stages.

  • Infants and Children – Babies may suffer from slow motor development which leads to slow walking and talking movement. Developing a docile and quiet personality, they seem to be weaker than the others. In addition, they might have problems with birth having testicles that are unable to fall into scrotum.
  • Adolescents – During the teenage period, the boys seem to be taller than the others in his age having a shorter torso, broader hips and pair of longer legs. Incomplete or delayed puberty accompanied by less facial and body hair and small testicles and penis. Weaker bones, suffering problems while socializing, difficulties in reading or spelling, lower energy levels and larger breast tissue are other symptoms during this stage.
  • Adults – A grown man might continue to have the same similar signs during his adulthood having less body and facial hair. Lower sex drive and increased belly fat along with weak bones might be other signs of the syndrome. Additionally, he might undergo behavioural problems, teeth problems, heart defects, skeletal abnormalities, peculiar facial features, poor coordination and intellectual disabilities can be usually observed.

Probable Health Issues Caused by Klinefelter Disease

Studies have found that many people after being affected with the syndrome have continued to live without undergoing certain critical physical condition. Generally, infertility seems to be the prime problem of the syndrome; however, there are several ways of treating the condition. Apart from infertility, the other health issues that people suffer from are.

  • Type 2 diabetes
  • Cardiovascular disease
  • Male breast cancer
  • Anxiety
  • Hypothyroidism
  • Autoimmune disorders
  • Osteoporosis
Source : Wiki
Klinefelter Syndrome : Causes, Symptoms and Treatment 2

When to See a Medical Professional

On several circumstances you can rush to your general physician to find out whether your son is actually affected by the disease.

  • If you notice certain problems in your son’s development including delay growth, you can visit the medical professional. You can keep in mind that variation in mental and physical self is normal but checking with physician will not do any harm.
  • In many cases, the disease is not identified until the fertility tests are run.

However, you can be assured that the disease is not serious; treatment over the course can minimize the signs and symptoms along with risk factors.

Diagnosis of KS

By running physical tests, your medical professional can come to the conclusion whether you have the disease. In the meantime, the doctor can ask you about medical history and questions regarding your health and the symptoms. Running general examination on chest and genital area, checking reflexes and analysing functioning and development.

  • Chromosome Assessment – The test, known as, karyotype analysis, confirms whether the patient has the disorder. Blood test is done to identify the number and shape of chromosomes. During the phase of puberty, the increase in blood levels of luteinizing hormone and pituitary hormones follicle-stimulating hormone. This increase can show outcomes of disrupting in testicular function.
  • Hormone Test – Urine or blood samples are assessed to check hormone level that can reveal whether the patient might be diagnosed with Klinefelter Syndrome.

You can see that the diagnosis level of the disorder varies among age groups and the small tests can help on a large scale. Most of the patients are seen to be diagnosed during the puberty phase and delay puberty calls for penile size not getting bigger even though there are signs of development of secondary sex factors. For adults the small testicular size is not a problem always; however, prevalence of infertility is usually the reality for the patients with this syndrome.

Treatment of Klinefelter Syndrome

It is better to see a healthcare professional who is specialised in treating or diagnosing the syndrome. Additionally, you can see a pediatrician, a genetic counselor, a speech therapist, infertility specialist or a physical therapist. However, you should familiarise yourself with the fact that you cannot get rid of the condition completely because it is still not possible to repair changes in sex chromosomes.

Testosterone Treatment

This treatment can be undertaken at the initial stage of puberty as testosterone replacement can work to stimulate transitions that take place at this time. The changes include growth of facial and body hair, deeper voice, increase in penile size and increase in muscle mass. Through this therapy, the patients can get dense bone eliminating the risk factors of fracture along with boosting up chances of fathering a child in future.

Minimise Infertility

Majority of the patients undergoing KS do not have the chances of becoming father as often they suffer from minimal sperm count. Intracytoplasmic sperm injection can be helpful for the people who have no or few sperm production level. In addition, it is to note that with the help of biopsy needle sperm is extracted from testicle in order to be injected into egg directly.


Teachers at school can counsel the boys and give educational support that can help them to easily interact with others. The thorough evaluation undertaken by the school teacher or nurse can benefit the students to minimise the problems with learning and socialise more.

Adults who have been trying to become a father can fall into prey of depression. Psychological distress can occur due to small penile length or infertility or low sex drive and psychological counselling can help on a large scale in this kind of situation.

Speech Therapy

Boys often problem have problems with speaking or uttering words with full clarity. The speech therapy can help in overcoming such problems with language speech. There is physical therapy that can reduce muscle weakness, too.

Removal of Breast Tissue

Enlarged breast often becomes a problem among men and plastic surgeons can help you remove excessive breast tissue providing you with a regular looking chest.

Long-Term Impact of KS

Boys and men might have been victims of certain problems due to the disorder; however, it does not disrupt the functioning ability of the majority. During school days, boys or adolescents might be helped through certain educational interventions to know beforehand what kind of problems they might suffer in future. In addition to the context, knowing the possible problems, they can prepare themselves or take adequate measures.

Show Support to KS Patients

If your son or spouse has KS, you should learn about the disease to show support and help him to keep away from depression. For your son, thorough monitoring of his development is required. Additionally, you should encourage him to participate more in extracurricular activities and interact in group activities.

You can contact with other parents whose sons also have the same disorder and can take tips on helping your son. Go for the internet resources asking your medical professional that can aid you in coping with your son’s physical development.

Difference between KS and XXY Disorder

Recent studies have found that the Klinefelter disorder and XXY disease have distinct features; however, the debate is ongoing. Medical researchers have found that people who are born with the XXY disorder do not develop characteristics or symptoms of the disorder specially explained by Dr. Klinefelter.

Medical professionals now prefer to describe boys and men who have an extra X sex chromosome as ‘XXY males’. It is now seen that the symptoms of KS are to be diagnosed with therapy or surgery that can promote masculine physique adding more growth in facial hair. Furthermore, a school of medical researchers prefer to indicate the pear-shaped body type of men lack testosterone but not an outcome of existing an additional X sex chromosome.

To delve deeper into the situation, researchers represent the fact that every individual having XXY does not develop KS as it might lead to male hypogonadism due to absence of testosterone. Hence, XXY might not be an intersex condition, after all.


If you find the symptoms of KS in your or son’s body, you need to pay a visit to the doctor; however, the physical condition might not be curable completely. You should not taking any medications without consulting with the medical professional and set a certain set of questions including from where you can get support or therapies if you have disease in order to understand your physical condition well. After undergoing the treatment or therapies, you might keep in touch with the medical professional for regular checkups and nip further complications in bud.

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