What is Klinefelter syndrome? – Causes, Symptoms and more

Klinefelter syndrome is a genetic disorder that develops when a boy is born with an extra copy of the X chromosome. In other words, Klinefelter syndrome is a chromosomal disorder that affects physical and mental development in males.

Klinefelter syndrome can impair testicular growth which results in smaller than normal testicles and reduced testosterone production.  

A male usually has one X chromosome and one Y chromosome. Treatments like physical and emotional therapy, as well as hormone replacement therapy are the common treatment given for Klinefelter syndrome.

Klinefelter syndrome affects males in the form of undersized testes that produce less testosterone. Testosterone is a hormone that controls male sexual development before and after birth, as well as throughout puberty. A lack of testosterone can cause delayed or incomplete puberty.

Symptoms of Klinefelter syndrome

Klinefelter syndrome develops in a variety of ways in males. The indications and symptoms of Klinefelter syndrome change with age.

The symptoms of Klinefelter syndrome vary with age. The symptoms may differ for adults, babies and children. The following are some of the symptoms shown in adults, babies and children.

Symptoms for adults 

Low testosterone levels

Klinefelter syndrome deteriorates the growth of testicles thereby lowering the production of testosterone.

Frequent erection

People with Klinefelter syndrome may have low erectile function compared to other individuals. Due to this reason, they are often prone to problems like frequent erection.

Infertility

Infertility is the most sought-after symptom of Klinefelter syndrome. This condition also affects the physical and cognitive development of the male body.

Low sperm count

Klinefelter syndrome results in inadequate sperm production. This is caused due to infertility problems like oligospermia or azoospermia.

Weak bones

Patients who are diagnosed with Klinefelter syndrome often experience conditions like Osteoporosis (weak bone) because of poor testosterone levels.

Symptoms for babies

Hernia

Babies who are inherently born with Klinefelter syndrome can rarely be affected by Inguinal Hernia.

Taking time to sit, stand and crawl

Klinefelter syndrome affected babies may take a longer time to crawl, sit and stand. This time delay is due to chromosomal problems in the genes.

Low bone and muscle growth 

Poor bone and muscle growth are one of the common symptoms that occur in children below the age of 5.

Symptoms for children

Taller than average height

Klinefelter syndrome affected people may grow taller than normal people. This is because of delayed closure of growth plates in bones, and their bones also tend to be weaker making them prone for fracture.

Poor energy

Klinefelter syndrome alleviates the original energy of your body and exhausts it as soon as you use your energy.

Problem to read and write 

Klinefelter syndrome affects the understanding ability of a person, which causes difficulty in abilities like reading and writing.

Low energy levels

Men with Klinefelter syndrome often experience sluggishness and low energy levels due to lower testosterone levels.

Causes of Klinefelter syndrome

Some of the important causes of Klinefelter syndrome include:

There are 46 chromosomes in humans, including two sex chromosomes that determine a person’s gender. The X chromosome is found in both males and females (XX). The X and Y chromosomes are found in males (XY).

The main causes of Klinefelter syndrome include:

Extra X chromosome

The most vital cause of Klinefelter syndrome is one extra copy of the X chromosome.

Extra copy of genes

Male sexual development and fertility can be hampered by extra copies of genes on the X chromosome.

XXY chromosome

The presence of the XXY chromosome in the male body indicates Mosaic Klinefelter syndrome. This type of syndrome is most commonly seen in both men and boys.

Risk factors of Klinefelter syndrome 

Klinefelter syndrome affects one in every 500 to 1,000 male infants. Women who become pregnant after the age of 35 are at a high chance of having a baby with this condition.

Complications of Klinefelter syndrome

Lower testosterone levels are the root of many of Klinefelter’s symptoms. You may have a slightly larger risk of:

• Lupus and Rheumatoid Arthritis are autoimmune diseases in which your immune system assaults healthy areas of your body.
• Breast cancer, as well as tumours of the blood, bone marrow and lymph nodes.
• Diabetes
• Heart illness and blood vessel problems
• Lung ailment
• Anxiety and depression are examples of mental health issues
• Osteoporosis – causes weak bones

When to see a doctor?

Doctor consultation is mandatory if you face any of the following conditions:

Slow body development

Growth and development problems, such as Klinefelter syndrome, can be the initial indicator of a variety of illnesses that require treatment.

Though some difference in physical and mental growth is typical, if you have any concerns, you should consult a doctor.

Infertility in men

Many men with Klinefelter syndrome are unaware that they are infertile until they discover they are unable to reproduce.

Treatment for Klinefelter syndrome

The earlier you treat and diagnose Klinefelter syndrome, the more are the chances to recover from the condition.

The most common treatment for Klinefelter syndrome is testosterone replacement therapy. This therapy after successful treatment can lower the chances of Klinefelter syndrome.

Apart from the therapy, the following treatments can also be performed for the treatment of Klinefelter syndrome:

Counselling

For mental health difficulties, counselling and assistance can be given to children to develop their learning and reading skills.

Exercise to improve fertility 

Doing exercise on a regular basis increases your level of testosterone and prevents infertility problems in men.

Improving muscle mass

Occupational and physical therapy are used to improve coordination and muscle mass.

Breast reduction surgery 

Breast reduction surgery is a procedure that is used to lower the size of the breast, especially for men who have inconsistent testosterone levels.

Children’s speech therapy

Speech therapy is given to children who face difficulty in speaking. This therapy helps to cure the speaking troubles of the children.

Diagnosis of Klinefelter syndrome

One of the following methods is commonly used to diagnose Klinefelter syndrome:

Prenatal screening test

A prenatal screening test is done before the baby is born to priorly detect the presence of Klinefelter syndrome.

Hormone testing

This test involves examining the samples of blood or urine to detect the presence of abnormal hormones, which are a sign of Klinefelter syndrome.

Chromosome analysis

Chromosome analysis is a laboratory test which involves sending blood samples to the lab to analyse the size and shape of chromosomes to detect Klinefelter syndrome.

Summing up

The severity of Klinefelter syndrome varies greatly. People with mild cases of Klinefelter syndrome may be unaware that they have it. Klinefelter syndrome is discovered in some males with mild instances during infertility testing.

Symptoms may appear early in life for some people, and treatment may be required throughout their lives. Other guys may not show any symptoms and may never be aware that they have the disease.