Chromosome XXY What is Klein-Felter Syndrome?

Chromosomal configuration is normal for XY male. The configuration of women is XX.The extra X chromosome in a man, doctors usually designate as XXY, indicates secondary sexual characteristics. Men with Klein-Felter syndrome do not produce sperm and are therefore infertile.

As you know, the number of chromosomes in each human cell is 46, which decreases and increases the number of chromosomal abnormalities.

One of the most common genetic diseases in men is Klein-Felter syndrome.

The healthy human chromosome formula is xy in men and xx in women, but men with this syndrome have a chromosomal formula (xxy).

Out of every 1000 baby boys, only one boy gets this syndrome.

The incidence of this syndrome increases when a woman is 35 years of age or older during pregnancy.

Symptoms of Klein-Felter syndrome

Unfortunately, the disease is not definitively diagnosed in boys until puberty.

Symptoms in infants

Weak muscles

– Delay in speaking

– Calm and obedient personality

Behaviors such as walking on all fours and sitting and walking of these children are later than normal. After birth, the testicles do not enter the scrotum. This syndrome has a negative effect on the growth of the baby boy’s testicles, so the testicles are smaller than normal in infected people.

Research has shown that women over the age of 35 are more likely to give birth to babies with this syndrome

Symptoms in adolescents

– They are taller than usual in their ages

– Long legs, shorter upper torso, wider buttocks compared to other boys

Delay in puberty or sometimes immaturity

Weak bones

After puberty, their bodies become less muscular and their facial and body hair is shorter than their peers.

– Small and stiff testicles

Abnormal breast enlargement

– They have difficulty expressing their feelings and show less social interactions

– Attention problems

– Shyness

– Have difficulty reading, writing and solving math problems

Symptoms in youth

Infertility – The testicles and penis are smaller than normal

– Height taller than usual

Weak bones

– Reduction of facial and body hair

– Decreased sexual desire

Breast tissue larger than normal

Causes of Klein-Felter syndrome

Klein-Felter is not an inherited disease, but a chromosomal abnormality, meaning that when a sex cell (egg or sperm) is formed, an error in the number of chromosomes occurs and an extra chromosome enters the egg cell that makes the embryo. .

Risk factors for Klein-Felter syndrome

Klein filter is caused by a random genetic error. Research has shown that women over the age of 35 are more likely to give birth to babies with this syndrome.

Therefore, women over the age of 35 who want to become pregnant should be more aware of this syndrome and receive more medical care.

Diagnosis of Klein-Felter syndrome

Klein-Felter syndrome may be diagnosed when a man notices his infertility.

For a more definitive diagnosis, the following tests are performed:

Karyotype test (count of individual chromosomes)

– Counting sperm count

– A blood test in which the following hormones are measured:

FSH (follicle-stimulating hormone), testosterone, estradiol (a type of estrogen) and LH hormone from the corpus luteum.

Klein-Felter syndrome is not an inherited disease, but a chromosomal abnormality

Treatment of Klein-Felter syndrome

If you have a child who has just been diagnosed with the disease, you can minimize their problems by taking treatment measures. You should work with a team of medical staff, including an endocrinologist, speech therapist, pediatrician, physiotherapist, genetic counselor, infertility specialist, and psychologist.

Although there is still no way to change and repair the Klein-Filter sex chromosome, the following treatments can reduce its effects.

Testosterone Injection (TRT) Treatment: Men with this syndrome do not secrete enough of this hormone in their bodies, and failure to secrete this hormone during puberty can have irreversible and lifelong effects on them.

Starting this type of treatment at the beginning of puberty can greatly reduce their problems.

Using this treatment allows boys with Klein-Felter syndrome to have normal body changes during puberty. Facial and body hair growth, increase in muscle mass, testicular enlargement, reduction of breast growth and improvement of bone density are among the beneficial effects of using this method.

Unfortunately, using this method may not have a positive effect on improving a person’s fertility. Therefore, the sufferer must perform therapeutic procedures.

Testosterone enters the body both by injection and in the form of a gel through the skin.

* Note

Excessive and unauthorized use of this hormone by a specialist can lead to many disadvantages, the most important of which is breast cancer in men.

Source – Explanation

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