Klinefelter syndrome

Klinefelter syndrome's disease overview

Klinefelter syndrome is a genetic disorder in men, the patient has a pair of X chromosomes instead of only one X chromosome. The development stages vary as physically, language and society. Normal sex characteristics in men during puberty will not develop, such as the growth of testes or producing testosterone sex hormones lower than usual.

Klinefelter syndrome is a common genetic condition affecting men and it is often not diagnosed until adulthood. About 1,000 people have 1 person with this syndrome.

Klinefelter syndrome may adversely affect the development of testes, leading to smaller testiculars, which can lead to lower testosterone production. The syndrome can also reduce muscle mass, reduce body and facial hair and breast tissue. The effects of Klinefelter syndrome are different, and not everyone has the same signs and symptoms.

Klinefelter syndrome can be children?

Most men with Klinefelter syndrome produce little or no sperm, but reproductive support procedures can help some men with Klinefelter syndrome can give birth. >

Klinefelter syndrome mechanism

The added of one or more X chromosomes or Y on the type of male causes different physical abnormalities and perceptions. The number of X chromosomes increases above the normal level that affects physical and awareness development. Bone and cardiovascular abnormalities are also more severe and increased. Genital development is particularly sensitive to each X chromosome, causing disorders of sperm tube and infertility, as well as deformities and minority of genitalia in Nam Da infection X. Moreover, the possibility of the ability Psychiatric decreases with chromosomes X added. The intellectual index (IQ) decreased by about 15 points for each X chromosome exceeded the normal level. In addition, it also affects the language and coordination, absorption is also affected.

Klinefelter syndrome may increase the risk:

  • Anxiety and depression
    • infertility and problems with sexual function
  • Weak bones (osteoporosis)

    • Heart disease and blood vessels

  • Breast cancer and some other cancers
  • Lung disease
  • Endocrine status such as diabetes and hypothyroidism
  • Auto immunity disorders such as lupus and rheumatoid arthritis
  • Tooth decay problems

    • Some complications caused by Klinefelter syndrome are related to low testosterone (hypogonadism). Testosterone replacement therapy reduces the risk of certain health problems, especially when starting treatment when starting puberty.

    Causes of Klinefelter syndrome's disease

    Causes of Klinefelter syndrome

    The cause of Klinefelter syndrome is due to a chromosomal defect. Typically, women with chromosomes are 46, XX and men with chromosomes are 46, xy. In this syndrome, men will carry chromosomes of 47, xxy. Excess X chromosome intervenes in the normal development of men in the fetus and at puberty.

    Klinefelter syndrome occurs due to a random error that causes men to have a secondary sex chromosome. It is not a genetic condition.

    Humans have 46 chromosomes, including two sex chromosomes that determine a person's sex. Children have two sex chromosomes x (xx). Males have sex chromosomes x and y (xy).

    Klinefelter syndrome can be caused by:

  • Add a copy of the X chromosome in each cell (xxy), the most common cause
  • A added chromosome in some cells (Klinefelter mosaic syndrome), with fewer symptoms
  • More than one copy of the X chromosome, very rare and leads to a serious form

    • A additional copy of genes on chromosomes X can hinder the growth and fertility of men.

    Transmission route of Klinefelter syndrome's diseaseKlinefelter syndrome

    Klinefelter syndrome originates from a random genetic event. The risk of Klinefelter syndrome does not increase by anything parents do or do not do. For older mothers, higher risk but only a little.

    People at risk for Klinefelter syndrome's disease

    Most men have little or no sperm male syndrome.

    There are problems with erectile, small penis, poorly developed beard, hair or small hair hair.

    Most adults and men have long hands and legs compared to the body axis. This syndrome can lead to osteoporosis (low bone density), increase the risk of breast cancer, and sometimes suffer from personality disorders.

    Signs and symptoms of Klinefelter syndrome are very different among men with this disorder. Many boys with Klinefelter syndrome have some notable signs and this condition may not be diagnosed until adulthood. For others, conditions have a noticeable effect on growth or appearance.

    Signs and symptoms of Klinefelter syndrome also vary with age.

    children

    Signs and symptoms may include:

  • Weak muscles
  • Slow engine development - takes more time to sit up, crawl and walk
  • Slow speaking
  • Quiet, docile personality
  • Problems at birth, such as the testicles do not go down the scrotum
    • Youth

    signs and symptoms may include:

  • higher than the average stature
  • longer legs, shorter body and wider hips than other boys
  • Absent, delayed or not completed puberty
  • After puberty, less muscle and less facial and body than other teenagers
    • small testicles, sure
  • Small penis
  • Gynecomastia (Gynecomastia)

    • Weak bones

    Low energy level

  • tends to be shy and sensitive
  • It is difficult to express thoughts and emotions or social communication
  • Issues about reading, writing, spelling or math
    • Men
  • Low sperm or no sperm
  • Small testes and penis
  • Low sexual desire

    • higher than the average height

    Weak bones

  • Reducing facial and body hair

    • Muscle less than usual

  • Expanded breast tissue
  • Increase belly fat
    • When to see a doctor? The delay in growth and development may be the first sign of some conditions to be treated - including Klinefelter syndrome. Although some changes in physical and mental development are normal, it is best to check with your doctor if you have any concerns.
  • Infertility male. Many men with Klinefelter syndrome are not diagnosed with infertility until they realize that they cannot be a father.

    • Diagnostic measures for Klinefelter syndrome's disease

    The doctor may take a thorough physical test and ask detailed questions about symptoms and health. This may include checking the genital and chest area, performing tests to check reflexes and evaluate development and function.

    The main tests used to diagnose Klinefelter syndrome are:

  • Endocrine tests . Blood or urine samples can reveal abnormal hormones that are signs of Klinefelter syndrome.
  • Chromosomal analysis. A blood sample is sent to the laboratory to check the shape and number of chromosomes.

    • Klinefelter detection method in the fetus

    A small percentage of men with Klinefelter syndrome is diagnosed before birth. This can be determined after a pregnant woman has a process of checking the fetal cells taken from amniotic fluid (amniotic fluid) or placenta for another reason, such as greater than 35 years old or age. have a family history of genetics.

    Klinefelter syndrome's disease treatments

    If diagnosed with Klinefelter syndrome, health care may include a doctor specializing in diagnosing and treating disorders related to the gland and hormones of the body (endocrinologist). , language therapist, pediatrician, physical therapist, genetic consultant, a reproductive drug or infertility expert, and a mentor or psychologist. P> Although there is no way to fix sex chromosomes due to Klinefelter syndrome, treatments can help minimize its effects. The sooner the diagnosis is done and the more treatment is started, the greater the benefits. But it is never too late to get help.

    Klinefelter syndrome treatment may include:

  • Testosterone replacement therapy. Puberty, like a deeper voice, face and body hair, and increases muscle mass and penis size. Testosterone therapy can also improve bone density and reduce the risk of fractures. It will not lead to the expansion of the testes or improving infertility.
  • Breast tissue removal. , leaving a more normal breast.
  • Speaking and physical therapy. Language and weakness.
  • Evaluation and support for education . Some boys with Klinefelter syndrome have difficulty learning and social communication and can benefit from further assistance. Talk to your child's teacher, school advisor or school nurse about what kind of support can help.
  • Infertility treatment . Most men with Klinefelter syndrome cannot be a father because they do not or have no sperm produced in the testes. For some men with minimum sperm production, a process called sperm injection in test tubes (ICSI) can be helpful. In the process of ICSI, sperm is removed from the biopsy testicle and injected directly into the egg.
  • Psychological advice. For men who have this disease, coping with infertility may be difficult. A family therapist, consultant or psychologist can help solve emotional problems.

    • The living habits can help limit the progress of the following Klinefelter syndrome:

  • Re -examination on schedule to monitor the progress of symptoms as well as health status
  • Listen to the doctor's instructions, do not arbitrarily take the drug without being indicated or arbitrarily quit
  • During treatment, if you have any serious mood changes when using testosterone instead or sudden pain in the back, hips, wrists or ribs, please contact. with a treating doctor;
  • Do not paste testosterone stickers at the same position each time to avoid skin irritation.

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