Definition

Klinefelter syndrome is a genetic condition in which a boy is born with an extra X chromosome. Normally, everyone has 46 chromosomes or 23 pairs, with males having 46XY chromosomes and females having 46XX chromosomes.

However, in Klinefelter syndrome, if a chromosome examination is performed, the boy's chromosomes will be XXY, so that the chromosomes become 47XXY. Klinefelter syndrome is often not detected until adulthood.

This disease is the most common sex chromosome disorder in humans. Cases of Klinefelter syndrome occur in 1 in 500-650 men. The effects of Klinefelter syndrome vary from patient to patient, not all individuals show the same signs and symptoms.

Generally, physically their bodies are taller than average and patients have fertility problems. In some cases, Klinefelter syndrome is often not detected until puberty or adulthood because the symptoms felt are very mild. This disease cannot be completely cured, but it can be treated to prevent worsening of the condition.

Causes

Although this disease is classified as a genetic disorder, Klinefelter syndrome is not passed from parent to child. An extra X chromosome can be acquired when a genetic error occurs during the formation of egg or sperm cells in one parent. The error occurs so that the X chromosome is not divided normally between the egg or sperm cells. Normally, each time a cell divides, each egg cell will get one X chromosome and the sperm will get one X or Y chromosome. Because of an error, one egg or sperm cell can have two X chromosomes.

This disease can also occur after fertilization when sperm meets an egg cell. For example, if an egg cell that has an extra X chromosome (XX) is fertilized by a sperm cell with a Y chromosome, the child can be born with Klinefelter syndrome. Likewise, the same thing can happen if a sperm cell has two XY chromosomes and fertilizes an egg cell with an X chromosome.

Risk Factor

Since Klinefelter syndrome is a genetic phenomenon, there are no specific factors that can increase the risk of developing Klinefelter syndrome. Some journals say that the risk of developing Klinefelter syndrome increases in mothers who are pregnant at the age of over 35 years, but this incident occurs very rarely.

Symptoms

The X chromosome carries genes that play a role in many organ systems, such as growth, brain development or testicular function. Therefore, the extra X chromosome in Klinefelter syndrome can disrupt many aspects of a person's development and cause abnormalities in physical body, sexual development, cognitive function and decision-making ability (mental capacity). Signs and symptoms of Klinefelter syndrome vary, depending on the age and circumstances of each person.

Infants

Symptoms of Klinefelter syndrome in infants include muscle weakness and slower muscle and motor nerve development. For example, babies take longer to sit, crawl and walk. In addition, babies can also experience delays in speech, and there are birth problems such as undescended testicles into the scrotum.

Children and Adolescents

In boys and adolescents, signs and symptoms of Klinefelter syndrome include:

• A taller than average height on the growth curve.
• Longer legs with a shorter and wider waist compared to boys of the same age.
• Puberty may not occur, may occur late, or may not have typical puberty characteristics.
• After puberty, less muscle, facial hair, and body hair may appear than in other adolescents of the same age.
• Small testicles and penis.
• Enlarged breast tissue (gynecomastia).
• Weak bones.
• Excessive fatigue.
• Tendency to be more shy and sensitive.
• Difficulty expressing thoughts, feelings, and socializing.
• Problems with reading, writing, spelling, or arithmetic.

Adults

Men with Klinefelter syndrome are unable to produce enough sperm and the hormone testosterone. Testosterone is a hormone that affects male sexual development before birth and during puberty. Without proper treatment, low and inadequate testosterone levels can cause delayed puberty, breast enlargement (gynecomastia), decreased muscle mass, decreased bone mass, and decreased facial and body hair.

In addition, as a result of small testicles and decreased hormone production, some men also have problems with infertility. The penis may also be smaller than it should be. Adult men may complain of low sexual desire or difficulty conceiving.

Diagnosis

To diagnose Klinefelter syndrome, the doctor will conduct an anamnesis or interview between the doctor and the patient, a physical examination, and supporting examinations.

Medical Interview

The doctor can ask the patient about:

• The patient's main complaint and accompanying complaints.

• Since when the complaint was experienced.

• What is the history of childbirth and pregnancy from the mother.

• Previous medical history and treatment undergone.

• Family history of disease.

Physical Examination

Next, the doctor will conduct a physical examination. The doctor will see whether the patient has passed puberty or not, whether the signs of puberty appear normally or not. The body will be examined from head to toe to see things that are abnormal when compared to men of the same age.

Diagnostic Tests

Then the doctor can conduct supporting examinations in the form of blood tests to analyze hormones in the body such as examining hormone levels in the body, chromosome analysis and bone density examination.

Management

If you or your child are diagnosed with Klinefelter syndrome, the doctor in charge is generally a doctor with special competence. Therapy will be given comprehensively in collaboration with specialist doctors and other medical personnel.

Although there is no way to repair sex chromosomes due to Klinefelter syndrome, the management carried out can minimize the symptoms of Klinefelter syndrome, namely:

• Hormone therapy
• Removal of excess breast tissue in gynecomastia
• Speech therapy and physical therapy
• Emotional support and education about Klinefelter syndrome
• Fertility-related therapy
• Counseling with a psychologist

Complications

Complications that can arise related to Klinefelter syndrome are:

• Anxiety disorders and depression
• Problems related to social and emotional relationships such as:
  • Low self-confidence
  • Acting impulsively
  • Emotionally immature
• Infertility
• Problems with sexual function
• Osteoporosis
• Breast cancer and increased risk of other types of cancer
• Risk of metabolic syndrome, etc.

Many of the complications of Klinefelter syndrome are related to low levels of testosterone in the body or hypogonadism. Therapy to increase the amount of testosterone hormone can reduce the risk of developing these complications, especially if done at the beginning of puberty.

Prevention

There is no specific way to prevent Klinefelter syndrome, prenatal education and screening can be done during pregnancy.

When to See a Doctor?

See a doctor immediately if your child experiences slow development during childhood, such as delayed growth and development compared to children of the same age.

You can consult a pediatrician first, or an internist if signs of illness are found in adulthood.

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