Klinefelter Syndrome Clinic Yawkey Center for Outpatient Care 32 Fruit Street Suite 6C Boston, MA 02114 Near Public Transit
Full Answer
Is there a cure for Klinefelter syndrome?
Although there's no way to repair the sex chromosome changes due to Klinefelter syndrome, treatments can help minimize its effects. 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:
What to expect at a Klinefelter syndrome appointment?
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. ...
What is Keith 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.
Can a man with Klinefelter syndrome produce viable sperm?
Men with viable sperm are in a minority, but if they receive treatment for Klinefelter Syndrome early on in their lives (from around age 12) and they respond well to treatment, they are more likely to produce viable sperm. To date, more than 60 children have been born worldwide who have fathers with KS.
What is the most common treatment for Klinefelters?
Treatment of Klinefelter Syndrome 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.
Is there any treatment 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.
How do you get tested for Klinefelters?
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.
Is Klinefelter syndrome survival rate?
We found that Klinefelter syndrome was associated with a significant increase in mortality risk of 40% (hazard ratio, 1.40; 95% confidence interval, 1.13-1.74), corresponding to a significantly reduced median survival of 2.1 yr.
Is Klinefelter syndrome a disability?
Most males with the 47,XXY karyotype have normal intelligence. Intellectual disability occurs in males with Klinefelter syndrome variants, who have a higher number of X chromosomes. About 70% of patients have minor developmental and learning disabilities.
Which parent does Klinefelter's syndrome originate from?
Klinefelter syndrome stems from a random genetic event. The risk of Klinefelter syndrome isn't increased by anything a parent does or doesn't do. For older mothers, the risk is higher but only slightly.
Can Klinefelter be misdiagnosed?
“My child has Klinefelter Syndrome, a genetic condition in which boys have an extra 'X' chromosome — 47,XXY,” the cards say. “Although it affects 1 in 600 males, it is typically underdiagnosed because its symptoms often mirror other diagnoses.”
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).
Does Klinefelter syndrome run in families?
Klinefelter syndrome isn't passed down through families like some genetic diseases. Instead, it happens randomly from an error in cell division when a parent's reproductive cells are being formed. If one of these cells is part of a successful pregnancy, a baby boy will have the XXY condition.
What is the life expectancy with someone with Klinefelters?
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 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.
What age is Klinefelter syndrome diagnosed?
Records from 98 patients with Klinefelter's syndrome were analyzed: 44 of them were under 18 yr old at referral (18 were under 10 yr old and 26 were between 10 and 17.9 yr old), and 54 were aged 18 yr or older. The most prevalent age range at diagnosis was 11–20 yr (Figure 1).
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.
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.
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.
Does low testosterone cause osteoporosis in KS?
For KS patients, other than the risks of low testosterone, patients also have an increased risk of diabetes and osteoporosis (weak bones). There is also evidence that thrombo-embolic (abnormal blood clotting) events like deep vein thrombosis (DVT) are more common in KS.
What kind of doctor treats Klinefelter syndrome?
Males with Klinefelter syndrome should be seen by a team of health care providers. The team may include endocrinologists, general practitioners, pediatricians, urologists, speech therapists, genetic counselors, and psychologists. Surgery may be needed to reduce breast size.
What are the health problems associated with Klinefelter syndrome?
Klinefelter syndrome can lead to weak bones (osteoporosis), varicose veins, and autoimmune diseases (when the immune system acts against the body), such as lupus or rheumatoid arthritis.
How many chromosomes does Klinefelter syndrome have?
Most males with Klinefelter syndrome, also called XXY males, have two X chromosomes instead of one. The extra X usually occurs in all body cells. Sometimes the extra X only occurs in some cells, resulting in a less severe form of the syndrome. This is called a mosaicism, and is very common.
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.
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Overview
The MassGeneral Hospital Klinefelter Syndrome Clinic takes a multidisciplinary approach to providing quality, coordinated care to individuals of all ages living with Klinefelter syndrome.
About This Program
In order to provide up-to-date care for people with Klinefelter syndrome, we take an evidence-based approach to care, informed by clinical and scientific research publications.
Age-appropriate Care
We work as a team to help those with Klinefelter syndrome and their families transition from prenatal consultation to infancy to adolescence, and through adulthood and their senior years. Our approach is customized to the age of the patient and their specific needs.
Our Multidisciplinary Team
With joint leadership between Medical Genetics and Reproductive Endocrinology, we have assembled a multidisciplinary team of medical, surgical, and neuropsychological specialists. Additional providers may be seen by referral through our program.
Research
At Mass General Hospital, we integrate clinical practice and scientific innovation to provide cutting edge care for our patients.
Patient Education and Resources
Klinefelter syndrome is a genetic condition in which boys are born with an extra copy of the X chromosome (XXY). This condition may lead to various medical problems, which may include small testes, infertility, and learning and mental health challenges. However, not everyone experiences the same problems.