SKlinefelter's syndrome is a genetic disorder caused by the presence of an extra copy of the X chromosome. As a result, males born with this condition will have some female characteristics.
Sex chromosomes will determine a person's gender. Normally, men have 46 chromosomes with an XY sex chromosome, while women have 46 chromosomes with an XX sex chromosome. When you have Klinifelter syndrome, a man can have 47 XXY, 48 XXXY, or 49 XXXXY chromosomes.
Causes of Klinefelter Syndrome
Klinefelter syndrome is caused by the presence of an extra copy of the X sex chromosome. This condition occurs in males, occurs randomly, and is not inherited. Men with classic Klinifelter syndrome will have chromosome 47 XXY, while those with variant Klinifelter syndrome may have chromosomes 48 XXXY, 48 XXYY, or 49 XXXXY.
This abnormality occurs during the development of the fetus in the womb. The more copies of the additional X chromosome, generally the more severe the health problems.
The exact cause of Klinifelter syndrome is not known. However, one of the factors that are thought to increase the risk of this genetic disorder is the age of the mother who is quite old during pregnancy.
Symptoms of Klinefelter Syndrome
Klinifelter syndrome will cause a decrease in testosterone levels. This condition will affect the physical, mental, and intellectual condition of the sufferer. Symptoms of Klinefelter syndrome generally vary widely. Some patients even feel the complaints and symptoms in puberty or adulthood.
If divided by age, the symptoms of Klinifelter syndrome that can appear are:
Baby
Symptoms of Klinefelter syndrome in babies can be:
- muscle weakness (hypotonia)
- Late language development
- Delayed motor development
- Have cryptorchidism or hypospadias
Children and teenagers
Symptoms of Klinefelter syndrome in children and adolescents include:
- Taller compared to other children his age with the ratio of long legs, shorter body, wider hips
- Puberty (the period of development of sexual organs) is late, incomplete, or does not occur. Usually some of the signs are smaller testicles, smaller penis, less pubic hair
- Enlarged breasts (gynecomastia)
- Lack of enthusiasm, difficulty socializing, or shy
- Learning disorders, such as difficulty reading, spelling, or writing
Mature
In adult men, fertility problems or infertility can be the main symptom of Klinefelter syndrome. This condition can be followed by other symptoms, such as:
- Low sperm count or no sperm
- Small testicles and penis
- Sexual dysfunction or low libido (sexual desire)
- Taller than men in general
- Osteoporosis
- Less muscular compared to other men
- Gynecomastia
Klinifelter syndrome is also often associated with an increased risk of several diseases, such as type 2 diabetes, heart and blood vessel disorders, hypothyroidism, autoimmune diseases, anxiety disorders, or breast cancer.
When to go to the doctor
Check with your doctor if you experience the symptoms mentioned above. Especially if you have fertility problems or impaired sexual organ development, such as undescended testicles (cryptocystitis), enlarged breasts, or sexual dysfunction.
Monitor your child's growth and development by regularly checking with the doctor. You also need to take your child to the doctor immediately if he has cryptokismus, hypospadias, or developmental delays.
Klinefelter Syndrome Diagnosis
The doctor will ask the patient's complaints and conduct an examination to assess whether there are abnormalities in the testicles, penis, and breasts. In children, the doctor will also carry out examinations to assess their growth and development.
After that, the doctor will perform the following supporting tests to diagnose Klinefelter syndrome:
- Hormone testUrine and blood samples will be used to check for abnormal hormone levels.
- Chromosome analysisChromosomal analysis or karyotype analysis can be used to determine the shape and number of the patient's chromosomes.
If adults come with fertility problems, the doctor will perform an examination to assess the number and quality of sperm.
If Klinifelter syndrome is suspected in an unborn baby or if the mother is over 35 years of age, the doctor will perform a noninvasive prenatal blood screening followed by an examination of the placenta (amniocentesis) for early detection of Klinefelter syndrome.
Klinefelter Syndrome Treatment
Until now, no specific method or drug has been found to treat Klinefelter syndrome. Treatment aims to relieve the symptoms of Klinefelter syndrome while improving the sufferer's quality of life.
There are several methods used to treat complaints due to Klinefelter syndrome, including:
- Testosterone replacement therapy, to help boys grow normally at puberty, while preventing testosterone deficiency (hypogonadism)
- Physical therapy, to train children who suffer from muscle weakness
- Speech therapy, to help children speak
- Occupational therapy, to improve coordination disorders
- Therapy intracytoplasmic sperm injection (ICSI), to help people with Klinefelter syndrome have children
- Plastic surgery, to remove excess breast tissue
In addition, support from family and closest people is needed to help overcome social difficulties and learning difficulties experienced by people with Klinifelter syndrome. If the patient has an emotional disturbance, consultation with a psychologist can also be done.
Complications of Klinefelter Syndrome
Lack of testosterone levels in the body due to Klinefelter syndrome can increase the risk of the following diseases:
- Mental disorders, such as anxiety or depression
- Emotional or behavioral disturbances, such as low self-esteem or impulsivity
- Infertility or infertility
- Sexual dysfunction
- Osteoporosis
- Breast cancer
- Lung disease
- Heart or blood vessel disease
- Metabolic syndrome diseases, including type 2 diabetes, hypertension, and high cholesterol
- Autoimmune diseases, such as lupus and rheumatoid arthritis
- Tooth decay, such as the appearance of cavities in the teeth
Klinefelter Syndrome Prevention
Klinefelter syndrome is a genetic condition that occurs randomly, so it cannot be prevented. To reduce the risk of this syndrome, you and your partner are advised to do genetic screening and consultation before marriage to find out the possible risk of your child developing this syndrome.
During pregnancy, pregnant women also need to undergo regular checkups to the doctor. Routine examinations are carried out to detect disorders or abnormalities in the fetus from an early age. The following is a recommended pregnancy control schedule:
- 4th to 28th week: once a month
- 28th to 36th week: every 2 weeks
- 36th to 40th week: once a week
When entering puberty, children with Klinefelter syndrome can immediately undergo testosterone replacement therapy to reduce the risk of complications due to low testosterone levels.