Klinefelter is a genetic disorder that affects males; this is due to when a male born with an extra copy of X chromosome, which causes infertility, low testosterone and other abnormalities such as breast development. Seeing a psychologist or psychiatrist can help alleviate emotional and mental problems associated with having Klinefelter syndrome. This treatment should begin at puberty or as soon after as possible. In addition to genetic testing, hormone tests can also be used to measure various hormone levels, including testosterone. And for goodness sake, don't smoke. Treatments for Klinefelter syndrome. Analysis of 25 years of studies involving 466 men with Klinefelter syndrome found that patients had a 50% higher mortality rate 3 and their life expectancy was 5 years shorter than average. For example, guys with Klinefelter syndrome may be more likely to get some types of cancer and other diseases, like type 2 diabetes and osteoporosis, a condition where the bones become weaker later in life. Our review of these tests is meant to help explain what you can, and more importantly what you can NOT, expect to learn or decide from their results. Specifically, infertility is due to a low sperm count or a complete lack of sperm. AIM: The aim of this analysis was to evaluate health outcomes and costs associated with life-long TRT in patients suffering from Klinefelter syndrome and late-onset hypogonadism (LOH). Klinefelter syndrome and related XY variant syndromes are not uncommon. Read More...We will do our best to keep our content current, but it's important to know the new research can change our content at any time. METHODS: A Markov model was developed to assess cost-effectiveness of testosterone undecanoate (TU) depot injection treatment compared with no treatment. Treatment Options for Klinefelter Syndrome . When they enter school they might experience some learning disabilities such as mild delays in their speech and language development or difficulty reading. Klinefelter syndrome is actually the most common chromosomal abnormality among males. Treatment may include: Testosterone replacement: About half of people with … But this type of treatment is not suitable because surgery causes greater pain and also costs higher. But this type of treatment is not suitable because surgery causes greater pain and also costs higher. XXY males might benefit from any or all of the following: Parents of XXY males have also mentioned that taking part in physical activities at low-key levels, such as karate, swimming, tennis, and golf, were helpful in improving motor skills, coordination, and confidence. Side effects, although generally mild, can include acne, skin rashes from patches or gels, breathing problems (especially during sleep), and higher risk of an enlarged prostate gland or prostate cancer in older age. Klinefelter syndrome treatment. Some, but not all, children with KS have language development and learning delays. It’s also commonly referred to as XXY syndrome or 47, XXY. KS was first described in 1942 as an endocrine disorder.5. Read our guide here. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. Klinefelter syndrome is the presence of an extra X chromosome in a male. Recent studies suggest that collecting sperm from adolescent XXY males and freezing the sperm until later might result in more pregnancies during subsequent fertility treatments.7,8 This is because although XXY males may make some healthy sperm during puberty, this becomes more difficult as they leave adolescence and enter adulthood. Importantly, there is no guarantee the procedure will work. One type of ART, called testicular sperm extraction with intracytoplasmic (pronounced in-trah-sigh-toe-PLAZ-mick) sperm injection (TESE-ICSI), has shown success for XXY males. Psychologists and/or psychiatrists. Males with the condition may want to join a Klinefelter syndrome support group. Only 50% of males with Klinefelter syndrome have low testosterone so levels should be checked before starting treatments. The exact exercises used will vary. No approved drug treatment exists for this condition of over-developed breast tissue, termed gynecomastia. Always seek professional medical advice about any treatment or change in treatment plans. You can find Klinefelter syndrome support groups through your primary care physician. Having extra X chromosomes can cause a male to have a variety of physical traits. Men who have Klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's syndrome. NIH staff guidance on coronavirus (NIH Only): https://employees.nih.gov/pages/coronavirus/, It's important to remember that because symptoms can be mild, many males with KS are never diagnosed ore treated.1. For others, it can be difficult to cope with the side effects, especially during adolescence. While ART procedures have improved in recent years, there’s still no guarantee they will work. Medical professionals estimate that Klinefelter syndrome affects 150 in every 100,000 males but it could be as many as 1 in every 500 men. In addition, testosterone supplementation will not increase testicular size, decrease breast growth, or correct infertility. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Can males with Klinefelter syndrome have babies? Most boys born with Klinefelter syndrome can lead normal productive lives with proper treatment and support. ; About one of every 500 males has an extra X chromosome, but many don't have any symptoms. Get the latest public health information from CDC: https://www.coronavirus.gov report the findings of a survey of the current practices of fertility care in adolescent males with Klinefelter syndrome (KS) among members of the Society for the Study of Male Reproduction, the Pediatric Endocrine Society, and the Endocrine Society (overall response rates of 4.7%, 5%, and 1%, respectively). The therapy will help with the development of hair growth, a deeper voice, increased muscle tone, bone strength and penis growth. Surgery - for enlarged male breasts. Living with XXY became a NonProfit 501(c)(3) Charitable organization on November 6th, 2019. Men with this condition should be screened for cancer regularly. En Español. Some may develop anxiety, depression, behavioral problems, or experience difficulty with social skills or attention. Testosterone; Educational support - for language difficulties. Klinefelter syndrome is associated with an increased risk for breast cancer, a rare tumor called extragonadal germ cell tumor, lung disease, varicose veins and osteoporosis. Chromosome analysis. Typically, they are only recommended when there is a high risk for another serious chromosomal problem. Drugs used to treat Klinefelter Syndrome The following list of medications are in some way related to, or used in the treatment … These tests are also known as "direct-to-consumer genetic tests". There are treatment options to help men overcome the obstacles of low sperm count, but they are not always successful. Men with Klinefelter syndrome produce little or no sperm production. Infertility specialists. Klinefelter syndrome treatment with homeopathy is also prominent for treating secondary symptoms. … Klinefelter's Syndrome, which affects 1 in 500 to 1 in 1000 live births, is a sex chromosomal genetic disorder where the affected males have an extra X chromosome. This treatment should begin at puberty or as soon after as possible. About one-half of XXY males' chromosomes have low testosterone levels.4 These levels can be raised by taking supplemental testosterone. Research into men’s experience of pregnancy following fertility treatment 20th September 2020 Guy’s Hospital First Klinefelter’s Syndrome (KS/XXY) Adolescent Clinic 27th August 2020 Your views on intersex community platforms – Dublin University survey 23rd August 2020 Physical therapy is used to build strength and motor skills. Often, symptoms are subtle and subjects do not realize they are affected. Klinefelter syndrome is one of the most common chromosomal disorders, affecting 1/500 to 1/1,000 newborn males. Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. Breast reduction surgery can be used to remove excess breast tissue. In some cases, the physical symptoms are so mild the condition isn’t diagnosed until puberty or early adulthood. In about 10% of cases, only some of the cells have an extra X chromosome, this is said to be mosaic Klinefelter Syndrome, and it tends to have milder symptoms. Connect with our licensed genetic counselors now. Patients who are using testosterone replacement therapy should work one-on-one with an endocrinologist. Men with this syndrome tend to have enlarged breast tissues. The only study which shows clear association between gynecomastia and male breast cancer is with Klinefelter syndrome; patients who have gynecomastia and Klinefelter syndrome are at about 50% increased risk of male breast cancer. When we focus on the sex chromosomes, we see that typically women have two X chromosomes and men have an X and a Y chromosome. Klinefelter syndrome or Klinefelter’s syndrome also known as XXY syndrome as the name itself represent is a genetic disorder in which there is the presence of one extra chromosome in the normal karyotype. Families can contact a local school district official or special education coordinator to learn more about whether XXY males can receive the following free services: Many of the professionals and methods for treating learning and language symptoms of the XXY condition are similar to or the same as the ones used to address social and behavioral symptoms. It’s one of the most common types of cosmetic surgery for men. 2. Here at YourDNA.com, if you or a loved one are facing a Klinefelter syndrome diagnosis, we know you have questions and you need answers fast. Between 95% and 99% of XXY men are infertile because they do not produce enough sperm to fertilize an egg naturally. The odds may be improved by freezing sperm in adolescence when the sperm is healthier. Additionally, individuals are at an increased risk for breast cancer, lung disease, and varicose veins. However, numerous clinical studies have failed to show the relationship between breast cancer and gynecomastia. Puberty is a time of rapid physical and psychological change, and treatment can successfully limit symptoms. For most individuals with Klinefelter Syndrome, the signs and symptoms tend to be mild, often going undiagnosed until puberty or adulthood. Prognosis for Klinefelter Syndrome. Treatment can help boys and men with Klinefelter live happy, healthy lives. Klinefelter syndrome is considered to be a rare disease. We’re busy at work revamping the YourDNA app for Apple and Android. Testosterone replacement therapy can be administered by injection, patch, pill or topical cream. Always seek professional medical advice about any treatment or change in treatment plans. Gender identity should be discussed with health care specialists before starting treatment.5. Individuals with Klinefelter Syndrome will have low levels of testosterone. The most common form of Klinefelter syndrome is the single extra X chromosome, XXY chromosomes in most cells in the body. Most males have one Y and one X chromosome. But various interventions, such as speech therapy and educational assistance, can help to reduce and even eliminate these difficulties. Often, symptoms are subtle and subjects do not realize they are affected. Stevens-Johnson Syndrome Genetic Disorder, Duchenne Muscular Dystrophy: Genetic Disorder. Not all males with XXY condition benefit from testosterone therapy. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontolog y , 105 (5), 670-677. Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. Take your time moving through the sections and feel free to read it a few times. Treatment One of the hallmarks of Klinefelter syndrome is hypergonadotropic hypogonadism, a condition that results in testosterone deficiency. Treatment List for Klinefelter syndrome. One of the most interesting facts about Klinefelter syndrome is that the condition can also occur in wild and domesticated animals. Diagnosing Klinefelter syndrome based on symptoms alone can be difficult, and there is no standard guideline for clinical diagnosis. Due poor or no sperm count, the majority of the men with Klinefelter syndrome are found to be infertile. About Klinefelter Syndrome Klinefelter Syndrome (KS) is a condition that occurs in men who have one or more extra X chromosomes. In this issue of the Journal, Zganjar et al. However, new studies have found that with the help of assisted reproductive therapy, some individuals with Klinefelter Syndrome can father children. Contrary to research results released decades ago, current research shows that XXY males are no more likely than other males to have serious psychiatric disorders or to get into trouble with the law.10. Living with XXY became a NonProfit 501(c)(3) Charitable organization on November 6th, 2019. This booklet offers information for expectant parents first learning about Klinefelter syndrome or 47,XXY, which is a chromosome condition. Many males consist of one X and one Y chromosome and an extra chromosome can cost a male with physical traits which are inappropriate for males. The information on this website is not to be used as a substitute for medical advice, diagnosis, and/or treatment. One of the most successful ART procedures is testicular sperm extraction with intracytoplasmic sperm injection. Get the latest research information from NIH: https://www.nih.gov/coronavirus They include: As boys get older they may also find that they have a low or decreased sex drive. In many cases, men with Klinefelter syndrome can’t father a child naturally on their own. Testosterone replacement therapy (TRT) TRT involves testosterone administered as gels, skin patches or injections. Some research suggests that Klinefelter syndrome is becoming more common and may be more prevalent in some populations. Individuals with this condition should see endocrinology to discuss testosterone therapy. However there are treatments available for the problems associated with the condition. There is a large community of families with this condition who can provide guidance and support. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). How many rare diseases are there? Men who have enlarged breasts are at an increased risk of getting breast cancer. Klinefelter Syndrome Definition, Klinefelter Syndrome Causes, Klinefelter Syndrome Symptoms, Klinefelter Syndrome Complications, Klinefelter Syndrome Surgery in India, Klinefelter Syndrome Surgery Cost, Klinefelter Syndrome Treatment in India, Klinefelter Syndrome Hospital in India, Klinefelter Syndrome best Surgeon in India Some health care providers recommend surgery—called mastectomy (pronounced ma-STEK-tuh-mee)—to remove or reduce the breasts of XXY males. Treatment Options for Klinefelter Syndrome . A list of references is also included at the bottom of this article. Individuals with this condition are also at an increased risk to develop autoimmune disorders such as rheumatoid arthritis, systemic lupus, and Sjogren Syndrome. Researchers have estimated that up to 75% of males with Klinefelter syndrome are never diagnosed 2. and the vast majority that are receive a delayed diagnosis that doesn’t occur until puberty or later. Speech therapists . 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