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.
Klinefelter Syndrome Symptoms
Klinefelter syndrome develops in a variety of ways in males. The indications and symptoms of Klinefelter syndrome change with age.
The klinefelter syndrome symptoms 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.
Klinefelter Syndrome Causes
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).
Klinefelter Syndrome Chromosome Pattern :
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.
Klinefelter Syndrome Treatments
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.
FAQs
1.What is the Klinefelter Syndrome karyotype?
The karyotype of Klinefelter syndrome is 47, XXY, which means that people with Klinefelter syndrome have an extra X chromosome in addition to the normal male karyotype of 46, XY.
2. What are the Klinefelter syndrome clinical features?
Typical Klinefelter syndrome clinical features are tall stature with long extremities, small testes, and learning disabilities.
