Procedures
The earlier a diagnosis is made and treatment is started, the greater the benefits. But it's never too late to get help. Treatment for Klinefelter syndrome is based on signs and symptoms and may include: Testosterone replacement therapy.
Therapy
Klinefelter syndrome 1 Diagnosis. Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. 2 Treatment. ... 3 Coping and support. ... 4 Preparing for your appointment. ...
Nutrition
It's important to remember that because symptoms can be mild, many males with KS are never diagnosed ore treated.1 What are the treatments for symptoms in Klinefelter syndrome (KS)? | NICHD - Eunice Kennedy Shriver National Institute of Child Health and Human Development
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Breast tissue removal. In males who develop enlarged breasts, excess breast tissue can be removed by a plastic surgeon, leaving a more typical-looking chest. Speech and physical therapy. These treatments can help boys with Klinefelter syndrome who have problems with speech, language and muscle weakness.
Is it too late to get help for Klinefelter syndrome?
What to expect at a Klinefelter syndrome appointment?
Is Klinefelter syndrome (KS) treatable?
How do you treat Klinefelter syndrome in males?
At what age is Klinefelter syndrome usually diagnosed?
Klinefelter syndrome (KS) is the most common (1/500–1/1000) chromosomal disorder in humans (1). Men with KS are often diagnosed late in life, usually during investigation for infertility and the mean age of diagnosis is commonly in the mid-30s (1,2).
Can Klinefelter syndrome be treated?
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.
What is the most common treatment for Klinefelter's?
It's never too late to treat Klinefelter, but the earlier you start, the better. One common treatment is testosterone replacement therapy. It can start at puberty and can spur typical body changes, such as facial hair and a deeper voice.
Can Klinefelter go undiagnosed?
Signs and symptoms of Klinefelter syndrome vary widely among males with the disorder. Many boys with Klinefelter syndrome show few or only mild signs. The condition may go undiagnosed until adulthood or it may never be diagnosed. For others, the condition has a noticeable effect on growth or appearance.
Can you build muscle with Klinefelter syndrome?
Physical therapy, occupational therapy, and speech therapy can build muscle strength and coordination as well as help guys improve their speaking, reading, and writing skills.
What is the quality of life with Klinefelter syndrome?
Quality of life is significantly impaired in men with Klinefelter Syndrome, most likely due to discrimination and the presence of somatic and mental health problems. A multidisciplinary approach of healthcare providers might help to provide adequate counselling and treatment to improve quality of life.
Does Klinefelter's affect lifespan?
What Is the Life Expectancy for Klinefelter Syndrome? Life expectancy for patients with Klinefelter syndrome is reduced by five to six years. Patients diagnosed at a younger age seem to have a shorter lifespan, possibly because diagnosis at an earlier age is associated with a more severe phenotype.
What is the survival rate of Klinefelter syndrome?
The mortality among KS men was 40% higher than that among population controls (hazard ratio, 1.40; 95% CI, 1.13–1.74; P = 0.002). The median survival age among KS subjects was 71.4 yr compared with 73.5 yr in controls, a difference of 2.1 yr (95% CI, 0.3–3.9; Fig. 1).
Do Klinefelters low testosterone?
In patients with Klinefelter's syndrome, blood tests characteristically show a low testosterone level, high sex hormone binding globulin (SHBG) and raised gonadotrophins. The diagnosis of Klinefelter's syndrome is confirmed by chromosomal analysis (karyotyping), which involves a blood test.
Can Klinefelter have normal sperm count?
This is known as Klinefelter Syndrome and is the most common genetic variation which impacts a man's fertility. Men with pure Klinefelter Syndrome are nearly universally azoospermic with a sperm count of zero in the semen due to a lack of adequate sperm production in the testicles.
How do you deal with Klinefelter syndrome?
Coping and supportLearn about Klinefelter syndrome. ... Monitor your son's development carefully. ... Keep regular follow-up appointments with medical professionals. ... Encourage participation in sports and physical activities. ... Encourage social opportunities and participation in group activities.More items...•
Are people with Klinefelter syndrome tall?
Adults with Klinefelter syndrome are usually taller than nonaffected adult males, reaching a mean final height of about 185 cm (73 in). XXY males (see the image below) also have disproportionately long arms and legs. About 25% of patients have fifth-finger clinodactyly.
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 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.
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.
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.
What are the conditions that are associated with Klinefelter syndrome?
These conditions include: Hypertension (high blood pressure).
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 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.
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 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.
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.
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.
Who can treat KS?
Ideally, treatment will include pediatricians, speech therapists, general practitioners, psychologists, infertility specialists, urologists, and endocrinologists.
How to treat testosterone loss?
Treatment is usually in the form of an injection, pills, gel, or a patch. Testosterone replacement therapy improves, strength, body hair growth, energy, and concentration. Starting treatment early, usually at the onset of puberty, can prevent the long-term effects of reduced testosterone production.
Is it too late to treat a chromosomal abnormality?
However, treatment can be effective in reducing symptoms. While early diagnosis will help manage some of the chronic aspects of KS, it is never too late to start treatment for KS.
What is KS?
The term "Klinefelter (pronounced KLAHYN-fel-ter) syndrome," or KS, describes a set of features that can occur in a male who is born with an extra X chromosome (pronounced KROH-muh-sohm) in his cells. It is named after Dr. Henry Klinefelter, who identified the condition in the 1940s. 1
Citations
Klinefelter, H.F., Reifenstein, E.C., & Albright, F. (1942). Syndrome characterized by gynecomastia aspermatogenesis without A-Leydigism and increased excretion of follicle stimulating hormone. Journal of Clinical Endocrinology & Metabolism, 2, 615–627.
Citations
Because XXY males do not really appear different from other males and because they may not have any or have mild symptoms, XXY males often don't know they have KS. 1, 2
Physical Symptoms
Many physical symptoms of KS result from low testosterone levels in the body. The degree of symptoms differs based on the amount of testosterone needed for a specific age or developmental stage and the amount of testosterone the body makes or has available.
Language and Learning Symptoms
Most males with KS have normal intelligence quotients (IQs) 7, 8 and successfully complete education at all levels.
Social and Behavioral Symptoms
Many of the social and behavioral symptoms in KS may result from the language and learning difficulties. For instance, boys with KS who have language difficulties might hold back socially and could use help building social relationships.
Symptoms of Poly-X KS 11
Males with poly-X Klinefelter syndrome have more than one extra X chromosome, so their symptoms might be more pronounced than in males with KS. In childhood, they may also have seizures, crossed eyes, constipation, and recurrent ear infections. Poly-KS males might also show slight differences in other physical features.
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.
When should I start testosterone replacement therapy?
No consensus on the best timing of starting testosterone therapy in adolescents has been reached to date. However, if pubertal development is not evident by age 14, initiation of testosterone replacement therapy should be recommended.
How often should I inject testosterone?
Intramuscular injections of testosterone enantate every 2–3 weeks is the simplest and most common means of testosterone administration. A new injectable form, testosterone undecanoate, is available in many countries and can be administered every 10–12 weeks to treat testosterone deficiency.
