Klinefelter’s Syndrome: Causes, Symptoms, and Treatments

Your height, your behaviour, your hair colour, and your looks are based on your genes. Your genes are the code that determines how your body looks and how it works.

A group of genes make up chromosomes. One pair of the chromosomes is called the sex chromosomes. The sex chromosome determines whether you end up becoming a male or female.

Typically, females have two X chromosomes (XX). Males have one X and a Y chromosome (XY).
However, there is a rare medical condition where a male is born with an extra X chromosome (XXY). This condition is known as Klinefelter syndrome.

This is condition is called Klinefelter’s or XXY. Most often, most men with this condition don’t know they have Klinefelter’s until they encounter problems when trying to have a child. Although there is no cure, it there is treatment. With the right care, most men with Klinefelter can live a normal, healthy life.

This article will discuss the causes of Klinefelter’s syndrome, the symptoms of Klinefelter’s syndrome , the diagnosis as well as the treatments.

Klinefelter’s Syndrome: Causes

The extra X chromosome that causes Klinefelter’s syndrome is gotten by chance. It could be that either the egg or sperm that came together to make conceive the child happened to have an extra X chromosome. The extra chromosome is gotten because of an event is known as nondisjunction. Nondisjunction occurs during paternal or maternal meiosis I stage (gametogenesis). Nondisjunction event occurs when homologous chromosomes, the X and Y or XX sex chromosomes, do not separate, producing a sperm with an X and a Y chromosome or an egg with two X chromosomes.
Women who have advanced in age have a slightly higher chance of having a boy with Klinefelter.

The extra X chromosome could be present in every cell, which is the most common.
The extra X chromosome could be present in only some cells, called mosaic Klinefelter. Mosaic Klinefelters doesn’t show any symptoms
More than one extra X chromosome is very rare and even more severe.

Klinefelter’s Syndrome: Signs and Symptoms

Symptoms of Klinefelter’s syndrome varies differently with age. All the symptoms do not usually show at once. Some men show symptoms early in life, but most men don’t show the symptoms that they have Klinefelter until puberty or into adulthood. The signs and symptoms of Klinefelter’s syndrome are different for babies, children and adults.

Symptoms in babies

The signs are not usually diagnosed shown at birth, because the baby boy looks healthy and seems unaffected. Nonetheless, there are specific physical symptoms sometimes associated with Klinefelter syndrome may be apparent at birth, they include:

• Small penis
• Undescended testicles
• Hypospadias.

Symptoms in Children

Boys with Klinefelter tend to have lower energy levels or any of the following:

Lack of facial, pubic and underarm hair
Poor muscle development
Breast tissue development (gynecomastia)
Delays in starting to talk or walk
learning difficulties
Unexplained weight gain, especially on the stomach or trunk
Tiredness and fatigue
Shyness and low confidence

Symptoms in Adults

Infertility: they can’t have children because they can’t produce enough sperm.
Low sex drive
Large breasts
Fewer facial and body hair, and it comes in later
Less muscle tone and muscles grow slower than usual
Longer arms and legs, wider hips,
Lower testosterone levels
Difficulty on getting or keeping an erection.

Diagnosis of Klinefelter’s syndrome

The physician runs two main tests to determine if a patient has this condition:

• Chromosome analysis: This test is also called karyotype analysis, this is a blood test that analyses your chromosomes.

• Hormone tests: This hormone test analyses the hormone levels in your blood or urine.

Klinefelter’s Syndrome: Treatment

The treatment should be treated earlier to avoid and alleviate the symptoms.
The most common treatment for Klinefelter’s syndrome is testosterone replacement therapy. When the treatment is applied at puberty, it can cause common physical changes, such as facial hair, muscle development and a deeper voice. This treatment can also help with increasing penis size and building stronger muscles and bones, but it won’t affect testicle size or fertility.
Testosterone replacement therapy throughout your life can also help you avoid some of the long-term problems associated with Klinefelter. Other treatments include physical therapy, mental health therapy, speech and language therapy, and counselling.

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