Procedures
Klinefelter syndrome is treated by giving teens and adults hormones. Testosterone will help to develop more male characteristics and estrogen will help to develop more female characteristics. Individuals with Klinefelter syndrome can also choose to remove breast tissue. How is the disease treated?
Therapy
Men with Klinefelter Syndrome are usually infertile and infertility is one of the leading reasons why patients with KS first attend a doctor.
Nutrition
Looking at someone’s chromosomes is done by a blood test called karyotype. This test can confirm a diagnosis of Klinefelter syndrome because there are 47 chromosomes, including two X chromosomes and a Y. This can be done in children, adults and even in a baby before birth.
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Klinefelter syndrome appears to occur more frequently with both older maternal and paternal age (over the age of 35.) A mother who gives birth over the age of 40 is two to three times more likely to have a baby with Klinefelter syndrome than a mother who is age 30 at birth.
What is the treatment for Klinefelter syndrome?
Why do men with Klinefelter Syndrome go to the Doctor first?
How do you test for Klinefelter syndrome?
Is Klinefelter syndrome more common in older mothers?
What is the most common treatment for Klinefelters quizlet?
This condition can be managed by treating the symptoms — often including hormone replacement, physical therapy and behavioral therapy.
Are there any cures or treatments for Klinefelter syndrome?
Currently, there is no way to remove chromosomes from cells to "cure" the XXY condition. But many symptoms can be successfully treated, minimizing the impact the condition has on length and quality of life. Most adult XXY men have full independence and have friends, families, and normal social relationships.
Is Klinefelter syndrome severe?
Differences in boys with Klinefelter syndrome can range from mild to severe. Some guys have few or no obvious signs. Other times, Klinefelter syndrome interferes with speech, learning, and development.
How common is Klinefelters?
Frequency. Klinefelter syndrome affects about 1 in 650 newborn boys. It is among the most common sex chromosome disorders, which are conditions caused by changes in the number of sex chromosomes (the X chromosome and the Y chromosome).
Can you reverse Klinefelter syndrome?
There's no cure for Klinefelter syndrome, but some of the problems associated with the condition can be treated if necessary. Possible treatments include: testosterone replacement therapy. speech and language therapy during childhood to help with speech development.
Is Klinefelter syndrome fatal?
Prognosis for Klinefelter Syndrome In general, life expectancy is normal. Some research has found that life expectancy for men with the condition may be a year or two less than those without it because of other health problems linked to Klinefelter.
Why is Klinefelter so tall?
From early school age, boys with Klinefelter's syndrome tend to be taller (increased leg length) because testosterone normally stops boys growing after puberty. This increase in height is maintained throughout life. Patients with Klinefelter's syndrome may have reduced coordination compared with other boys.
How does Klinefelter syndrome affect a person's life?
Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue.
What can a counselor do for a boy with KS?
Mental health therapists or counselors help males with KS find ways to cope with feelings of sadness, depression, self-doubt, and low self-esteem. They can also help with substance abuse problems. These professionals can also help families deal with the emotions of having a son with KS.
Can KS be treated?
En Español. It's important to remember that because symptoms can be mild, many males with KS are never diagnosed ore treated. 1. The earlier in life that KS symptoms are recognized and treated, the more likely it is that the symptoms can be reduced or eliminated. 2 It is especially helpful to begin treatment by early puberty.
What tests are used to diagnose Klinefelter syndrome?
Two types of tests are used to diagnose Klinefelter syndrome: Chromosome analysis: Also called karyotyping, this blood test checks for abnormal chromosomes, such as an extra X chromosome. Hormone testing: Blood or urine tests can show low testosterone levels, which are a sign of Klinefelter syndrome.
How often can you get Klinefelter syndrome?
Or you can get it by injection every two to three weeks. Other treatments for Klinefelter syndrome include: speech and language therapy. physical therapy to improve muscle strength. occupational therapy to help you function day to day at school, work, and in your social life.
Why is Klinefelter syndrome not discovered?
Because these tests can increase the risk for a miscarriage, they usually aren’t done unless the baby is at risk for a chromosome problem. Often Klinefelter syndrome isn’t discovered until a boy reaches puberty or later. If your child is slow to develop, see an endocrinologist.
How many babies does Klinefelter affect?
It affects between 1 in 500 and 1 in 1,000 newborn males. Variants of the disease with three, four, or more extra X chromosomes are less common. These variants affect 1 in 50,000 or fewer newborns. It’s possible that Klinefelter syndrome affects even more boys and men than statistics suggest.
What is the best treatment for gynaecomastia?
For those with excess breast tissue (gynaecomastia), breast reduction surgery may be offered if this does not resolve with optimised testosterone therapy .
Is there a cure for Klinefelter syndrome?
There is no cure for Klinefelter Syndrome (KS). However there are treatments available for the problems associated with the condition.
What kind of therapists can help with Klinefelter syndrome?
Those with Klinefelter syndrome may need help from a number of different therapists, including: Speech and language therapists. Physical and/or occupational therapists. Emotional, behavioral and family therapists. Therapy can really help limit the impact of certain symptoms of Klinefelter syndrome.
What are the conditions that are associated with Klinefelter syndrome?
These conditions include: Hypertension (high blood pressure).
Why do testicles fail in Klinefelter syndrome?
This happens because the testicles usually “fail” in Klinefelter syndrome, which makes them unable to make testosterone and sperm. Replacing the testosterone hormone can help minimize some of the symptoms of the condition. In children and teens testosterone is usually replaced via injection.
How many people with Klinefelter syndrome know about their diagnosis?
Some people believe that only 20 to 30% of all people with Klinefelter syndrome ever know about their diagnosis. For others, it’s only discovered when the man is tested for infertility. Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission.
What are the physical symptoms of Klinefelter syndrome?
Physical symptoms of Klinefelter syndrome include: Being born with a smaller penis, and/or undescended testicle (s). Having abnormal body proportions. (This can include being too tall, having long legs and a short trunk and the shoulders being equal to hips in size rather than wider, which is more typical in a male.)
Can Klinefelter syndrome cause infertility?
People with Klinefelter syndrome often experience infertility. Whenever possible, these patients should be seen by a fertility specialist at the time of diagnosis (preferably before starting testosterone) for discussion of possible fertility preservation methods (or to confirm that this is not possible).
Is Klinefelter syndrome a congenital condition?
Klinefelter syndrome is a congenital condition, which means it’s present from the time of birth. There are certain tests that can be done during the mother’s pregnancy that can diagnose it before birth, however more often it’s diagnosed later in life.
How often does Klinefelter syndrome occur?
Klinefelter syndrome appears to occur more frequently with both older maternal and paternal age (over the age of 35.) A mother who gives birth over the age of 40 is two to three times more likely to have a baby with Klinefelter syndrome than a mother who is age 30 at birth. We currently do not know of any risk factors for Klinefelter's syndrome which occurs due to errors in division after fertilization. 1
What is the cause of Klinefelter syndrome?
Klinefelter syndrome is caused by a random genetic error that occurs during the formation of the egg or sperm, or after conception. Most commonly, Klinefelter syndrome occurs due to a process referred to as nondisjunction in the egg or the sperm during meiosis.
How many chromosomes are in Klinefelter's syndrome?
Klinefelter syndrome is characterized by an abnormality in the chromosomes or genetic material which make up our DNA. Ordinarily we have 46 chromosomes , 23 from our mothers and 23 from our father. Of these, 44 are autosomes and 2 are sex chromosomes.
Can you get Klinefelter from genetics?
As noted, many men do not realize they have Klinefelter until they are trying to start a family of their own, as men with the condition do not produce sperm and are therefore infertile. Genetic tests will show the presence of an extra X chromosome and are the most effective way to diagnose Klinefelter.
Is Klinefelter's syndrome inherited?
1 . It's important to note again that while Klinefelter is a genetic syndrome, it is not usually "inherited" and therefore does not "run in families.".
Is mosaic Klinefelter syndrome mild?
With mosaic Klinefelter syndrome, the signs and symptoms may be milder, whereas other combinations, such as 49XXXXY usually result in more profound symptoms. In addition to Klinefelter syndrome and Down syndrome there are other human trisomies .
Treatment for Klinefelter Syndrome
Klinefelter Syndrome is a spontaneous genetic disorder of males caused by the attainment of an extra X chromosome at conception (genotype XXY instead of the usual XY). It occurs in one in every 500-1000 male births but the rate is up to 20 times higher in newborns with mental retardation, compared with neuro-typical newborns.
Symptoms of Klinefelter Syndrome
Having the extra sex chromosome can result in behavioral problems, dyspraxia (balance and coordination issues), learning difficulties, and speech disorders in affected boys. As they reach puberty, the KS boy’s testes may fail to grow to normal size and they might develop breasts (known as gynecomastia).
Infertility and Klinefelter Syndrome
Sometimes, however, there are no outward physical or psychological symptoms or signs and it is only discovered by chance when the person is being investigated for infertility. Men with Klinefelter Syndrome are usually infertile and infertility is one of the leading reasons why patients with KS first attend a doctor.
What Treatment is Available?
Hormone replacement therapy with the hormones testosterone, estradiol, follicle-stimulating hormone (FSH), and luteinizing hormone (LH) is the mainstay of medical treatment. Medication is usually given by injection as the tablet form is often not effective enough.
