Everything You Wondered About Klinefelter Syndrome!

Klinefelter syndrome is a disease that only affects male infants. So, why does it happen and what symptoms does it show? Is it possible to treat Klinefelter syndrome? Answers and more in our article!

What is Klinefelter syndrome?

Klinefelter syndrome is a genetic disease that only affects male infants.

A healthy person has 46 chromosomes, consisting of 23 pairs, while those with Klinefelter syndrome have an extra sex chromosome.

That is, in a normal karyotype (chromosome map), the child should be 46,XY, while in Klinefelter syndrome, the karyotype is 47,XXY.

What causes Klinefelter syndrome?

What causes Klinefelter syndrome is the fertilization of an egg cell carrying two X chromosomes with a normal sperm during cell division. This is purely a genetic thing.

Although there are opinions that factors such as the age of the mother increase the possibility of Klinefelter syndrome during pregnancy, let’s say that there is no research yet to prove this.

How is Klinefelter syndrome diagnosed?

The diagnosis of Klinefelter syndrome can be made during pregnancy by amniocentesis and karyotyping. However, amniocentesis is not performed with the suspicion of Klinefelter syndrome in ultrasounds performed for routine pregnancy controls .

Usually, the disease is diagnosed by performing karyotype analysis while performing amniocentesis to expectant mothers for different reasons.

In physical examinations, the genital area and chest area are examined. Hormone and chromosome analysis tests are done to check if there is a problem in reflexes and mental development.

• Hormone testing measures hormone levels in the blood or urine. Abnormalities in hormone levels indicate Klinefelter syndrome.
• With chromosome analysis, also called karyotype analysis, a blood sample is taken to check the shape and number of chromosomes. The diagnosis of Klinefelter syndrome is confirmed by laboratory examination.

What are the symptoms of Klinefelter syndrome?

Symptoms in men with Klinefelter syndrome can vary with age.

When babies with Klinefelter syndrome are born, everything looks normal. These children crawl, walk and sit on time. The diagnosis is usually made more easily after adolescence.

We can list the symptoms of Klinefelter syndrome according to the periods as follows:

Symptoms of Klinefelter syndrome in infants

• Weakness in the muscles,
• Weakness in motor skills,
• Learning to speak slower than their peers,
• It is quiet and docile.

Symptoms of Klinefelter syndrome in teenagers

• taller than average,
• Longer legs, short torso and wider hips than other men
• Weakness in bones
• feminine breasts,
• Small testicles and penis
• Thin sound,
• Lack of beard and mustache,
• Feminine body hair
• delay in puberty,
• Difficulty expressing feelings
• asocialization,
• Attention problems.

In addition, decreased sex drive and infertility problems are added to the symptoms of Klinefelter syndrome seen in adulthood.

What are the types of Klinefelter syndrome?

There are 2 types with similar features to Klinefelter syndrome. The first is 48, XXYY syndrome, a disease with features of Klinefelter syndrome. Much more severe symptoms are seen.

The second is Mosaic 47,XXY/46,XY klinefelter syndrome. Symptoms vary according to the density of cells with a 47,XXY karyotype.

Does Klinefelter syndrome cause mental retardation?

Klinefelter syndrome does not cause mental retardation, but it can negatively affect cognitive development. This situation causes speech disorder in the child, difficulty in solving mathematical problems, and difficulties in reading and understanding.

For this reason, it is very important for the child to be educated by conscious teachers and to receive support from his family in order to overcome the difficulties he faces.

Can a person with Klinefelter syndrome have a child?

Klinefelter syndrome causes infertility in men because it interferes with sperm production. Generally, people with Klinefelter syndrome do not have children naturally, but with testosterone replacement therapy, the chance of having a child can be obtained.

How is Klinefelter syndrome treated?

With the treatment of Klinefelter syndrome, it is not possible to change the sex chromosomes or correct the disorder. However, the earlier the diagnosis is made, the less the effects of the problems that may arise as a result of the disease can be reduced.

In the treatment of Klinefelter syndrome, it is important that many healthcare team members such as endocrinologists, pediatricians, speech therapists and psychologists act in cooperation. Moreover;

• testosterone replacement therapy,
• Removal of breast tissue
• Language therapy to help with speech and language development
• Physical therapy to support the development of muscles,

• Educational support for learning difficulties and behavioral problems,
• Infertility treatment to ensure childbearing,
• Receiving services in areas such as psychological counseling for any mental problem is very beneficial in reducing the symptoms of the disease.

What is recommended for those with Klinefelter syndrome?

• First of all, as a mother, you should get detailed information about Klinefelter syndrome and consult experts to learn how to support your child.
• You should monitor your baby’s development carefully, and consult your doctor if you notice any abnormality in speech and language.
• You should support the development of muscle and motor skills by encouraging your child to do sports and exercise.
• You should not neglect to get support from private education institutions when necessary.
• The child may be afraid of his illness from time to time. If necessary, you should seek help from a psychologist to reduce her anxiety and make her feel that she is not alone. It would also be a good support for you to introduce children with Klinefelter syndrome.