Klinefelter syndrome: symptoms, causes, to treatment

There are rare chromosomal disorders that can occur during pregnancy, one of which is Klinefelter's syndrome. Quoted from Genetic and Rare Disease, it is estimated that 1 in 1000 newborn boys have an excess X chromosome. The excess X chromosome triggers Klinefelter's syndrome, along with the explanation.

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What is Klinefelter's syndrome?

Klinefelter's syndrome is a genetic condition that occurs when a boy is born with an extra copy of the X chromosome.

One of these chromosomal disorders affects boys and often goes undiagnosed until adulthood.

This syndrome can affect the growth of the testicles.

The result, the testicles are smaller than normal size. As a result, the child's testosterone production is lower.

This syndrome can also cause:

• Reduced muscle mass.
• Reduced body and facial hair.
• Enlargement of breast tissue (gynecomastia)

The effects of this syndrome vary and not everyone has the same signs and symptoms.

Most boys with Klinefelter's syndrome produce little or no sperm.

However, in adulthood, children with this syndrome can remain a father with the help of certain reproductive procedures.

What are the features of Klinefelter's syndrome?

There are several signs and features of Klinefelter's syndrome which are divided according to the child's growth phase, quoted from the NHS:

Klinefelter syndrome in infants:

• Weak muscles
• Slow motor development (sitting, crawling, walking)
• Talking too late
• The testes have not descended into the scrotum

The features of Klinefelter's syndrome in teenage boys:

• Taller than average body
• Longer legs
• Shorter body
• Hips bigger than other children
• Boys go through puberty late
• Less muscle and hair mass
• Hard testicular condition
• Small size of the testicles and penis
• Tiring easily
• Difficulty expressing feelings
• Problems with reading, writing, spelling and counting

Klinefelter syndrome in adult men:

• Low sperm count, even no sperm.
• Small testicles and penis
• Low sexual arousal
• The body is taller than his age
• Low bone density (osteoporosis)
• Reduced facial and body hair
• Enlarged breast tissue (gynecomastia)
• Belly fat increases

The condition of the testicles is small and does not descend into the scrotum due to the reduced production of the hormone testosterone.

If you have the characteristics mentioned above or certain symptoms, consult a doctor immediately.

What causes Klinefelter's syndrome?

Quoting from the Mayo Clinic, the cause of Klinefelter's syndrome is a defect in the sex chromosomes.

Normal women have a chromosome pattern of 46, XX. While normal men have a pattern of 46, XY.

In this syndrome, there is a pattern of 47, XXY. This extra X chromosome interferes with the sexual development of the fetus from the womb to puberty.

More specifically, this syndrome can be caused by:

• One additional copy of the X chromosome in each cell (XXY). This is the most common cause.
• Extra X chromosome in some cells (Klinefelter mosaic syndrome), with fewer symptoms.
• More than one extra copy of the X chromosome. This condition is rare and causes severe conditions.

The extra copy of the genes on the X chromosome can interfere with sexual development and male fertility.

A number of complications caused by this syndrome are associated with low testosterone levels (hypogonadism).

Testosterone replacement therapy can reduce the risk of certain health problems, especially when therapy is started early in puberty.

What increases a child's risk of developing Klinefelter's syndrome?

This syndrome occurs due to genetic factors that occur randomly.

The risk of a child born with Klinefelter's syndrome is not increased by anything the parents do.

Although the trigger factor is not clearly known, women who become pregnant at an older age are at risk of giving birth to children with this condition.

What are the complications of Klinefelter's syndrome?

In some cases, the severity of Klinefelter's syndrome can lead to complications, such as:

• Anxiety disorders
• Depression
• Social, emotional and behavioral problems
• Sexual function problems
• Osteoporosis
• Heart disease
• Breast cancer
• Lung disease
• Diabetes mellitus type 2
• Hypertension
• Cholesterol
• High triglycerides (hyperlipidemia)
• Autoimmune disorders (lupus and rheumatoid arthritis)
• Oral and dental problems
• Autism spectrum disorders

The complications above are caused by low testosterone.

You can take testosterone replacement therapy to reduce the risk of certain health problems.

It would be better if therapy started at the beginning of puberty.

What are the tests for Klinefelter's syndrome?

Doctors make a diagnosis based on a physical examination of a child who is not developing normally.

Chromosome analysis (karyotype) is carried out by taking a cell sample from the mouth to determine the number and type of chromosomes.

However, Klinefelter syndrome can be diagnosed before the child is born.

This syndrome can be detected in pregnancy when the mother underwent a procedure to check fetal cells.

These chromosomal abnormalities can be detected by a noninvasive prenatal screening blood test.

This examination is to detect chromosomal abnormalities in the fetus.

These disorders can trigger Down syndrome, trisomy, to Klinefelter's syndrome.

Sometimes, this condition can be diagnosed as an adult, when he went to the doctor for impotence or infertility.

Blood tests can show low levels of testosterone and high levels of other hormones, such as follicle stimulating hormone (FSH).

What is the treatment for Klinefelter syndrome?

Basically, there is no cure for this syndrome.

However, therapy can be used as a way to reduce its severity.

The most common therapy is the administration of drugs to increase the hormone testosterone.

Testosterone hormone therapy

Quoted from the NHS, this procedure uses drugs that contain the hormone testosterone.

There are various forms of drugs that are given, such as tablets, capsules, or liquids that are injected into adult men.

This therapy can be done after boys pass puberty.

The doctor will judge from:

• Voice change development
• Hair on face and body parts
• Increase in muscle mass
• Reduction of body fat
• Increased energy.

Parents need to consult a pediatrician with a subspecialty in pediatric endocrinology.

Talk therapy

Children with Klinefelter syndrome often experience speech delays. To improve your little one's communication skills, treatment is talk therapy in a hospital or health clinic.

Physiotherapy

Lack of supply of the hormone testosterone prevents boys from developing muscles properly.

Physiotherapy works to build and increase muscle strength in boys with Klinefelter's syndrome.

Body coordination therapy

Children with this chromosomal abnormality have impaired body coordination. Some children also experience dyspraxia.

It is a form of impaired development of fine and gross motor coordination in children.

This condition is caused by a disturbance in the nerves that makes it difficult for the brain to process signals for the body to move.

Breast tissue removal

The low testosterone hormone causes boys with this syndrome to have prominent breast glands.

Usually, the doctor will perform breast reduction surgery to remove excess breast tissue.

Fertility treatment

Fertility treatment is carried out because men with this syndrome often experience problems with sperm.

If an adult male with Klinefelter's syndrome wants to have children, he will be directed for artificial insemination.

This is the process of fertilization using donor sperm or intracytoplasmic sperm injection (ICSI).

ICSI is a procedure in which the released sperm is used to fertilize an egg in the laboratory.

How to prevent Klinefelter's syndrome?

This syndrome cannot be prevented because it occurs due to chromosomal abnormalities.

If your child has this syndrome, there are several things to note, namely:

• Avoid putting testosterone injections on the same skin every time to prevent irritation.
• Call your doctor if you have red spots after using testosterone injections.
• Check with an endocrinologist if you have concerns about your child's sexual development and function.
• Check with the surgeon if your child has a lump in the breast.
• Call the doctor if your child has sudden bone pain in the back, hips, wrists, or ribs.

This is a rare disease, please contact your doctor for more info.