Approximately 5% of Klinefelter syndrome cases detected at amniocentesis r… In this issue of the Journal, Zganjar et al. 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. Klinefelter syndrome is a condition that requires a multidisciplinary treatment approach involving one or more of the following specialists: Mild cases of Klinefelter syndrome may require no treatment. For instance, boys with KS may need help with social skills and interacting in groups. It’s believed that half the time the error originates in the mother’s egg and the other half is due to the father’s sperm. Individuals with this condition might have lower self-esteem than their peers and need additional emotional support. An estimated 53-55% of conceptions affected with Klinefelter syndrome are expected to survive to term.4. Klinefelter syndrome may affect up to 1 in 500 male births in the world today.2. As with any invasive surgery, there are risks involved with gynecomastia that should be discussed with a qualified surgeon. That's why we've done the research. Some XXY males will qualify for programs like the early intervention program for infants and toddlers with disabilities, which can have a huge impact on their education and social skills in the future. No matter your genetic makeup, maintain ideal blood pressure and glucose levels, avoid harmful alcohol intake, exercise regularly, get regular sleep. The information on this website is not to be used as a substitute for medical advice, diagnosis, and/or treatment. Klinefelter syndrome, also known as the XXY condition, is a term used to describe males who have an extra X chromosome in most of their cells. When a diagnosis is made, treatment is based on the signs and symptoms present in each person, especially the problems related to hypogonadism, gynecomastia, and psychosocial problems. Boys and men with Klinefelter syndrome have a 2-40 fold increased risk of getting a bone fracture. Get the latest research information from NIH: https://www.nih.gov/coronavirus Fractures are another regular occurrence due to weakened bones (osteoporosis). Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Il s'agit d'un des cas d'intersexuation1. In adolescence, symptoms such as lack of body hair could make XXY males uncomfortable in school or other social settings, and this discomfort can lead to depression, substance abuse, and behavioral problems or "acting out." Between 95% and 99% of XXY men are infertile because they do not produce enough sperm to fertilize an egg naturally. Parents might need to bring these types of problems to the teacher's attention. Testosterone treatment can: There are various ways to take testosterone: Males taking testosterone treatment should work closely with an endocrinologist (pronounced en-doe-kren-AWL-oh-jist), a doctor who specializes in hormones and their functions, to ensure the best outcome from testosterone therapy. However there are treatments available for the problems associated with the condition. What Is Klinefelter Syndrome? Klinefelter syndrome is a genetic condition that affects males. While ART procedures have improved in recent years, there’s still no guarantee they will work. This could mean their sex chromosomes could be XXY, XXXY, XXXXY, or something along those lines. It's important to remember that because symptoms can be mild, many males with KS are never diagnosed ore treated. If you are a parent of a child recently diagnosed you might be wondering what the future holds. The list of treatments mentioned in various sources for Klinefelter syndrome includes the following list. Occupational therapy helps with functioning in social settings, work environments and school. 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 But, sperm are found in more than 50% of men with KS.6. Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. Some school districts and health centers might also offer these types of skill-building programs or classes. Often, symptoms are subtle and subjects do not realize they are affected. Klinefelter syndrome is classed as a disability when a child has learning disabilities. Seeing a psychologist or psychiatrist can help alleviate emotional and mental problems associated with having Klinefelter syndrome. Treatment may include: Testosterone replacement: About half of people with … Men with Klinefelter syndrome can now have children, if they want, with new forms of in-vitro fertilisation. If a child’s speech is impacted by Klinefelter syndrome therapy may be needed. Men who have Klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's syndrome. 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. 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. It’s a question that many men ask after being diagnosed. hrt doctors group has created a specific lower-cost klinefelter syndrome treatment protocol: Initial Hormone Blood Test + Doctor Consultation: $79.95 (Note: This is a one-time fee) Monthly Medical Rx Protocol: $155.95 Infertility specialists. Where Can I Find Clinical Care Recommendations and Practice Guidelines? Breast Tissue Removal. The type of treatment needed depends on the type of symptoms being treated. A recent Danish study indicated that Klinfelter syndrome was present in 153 per 100,000 babies tested.3. The syndrome can affect boys and men at different stages of life and their physical, language, and social development. For these males, supplemental testosterone may not be suitable. Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood.Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. However, new studies have found that with the help of assisted reproductive therapy, some individuals with Klinefelter Syndrome can father children. Learn more about Klinefelter syndrome, including how it affects men's hormone health and what treatment options are available. In many cases, men with Klinefelter syndrome can’t father a child naturally on their own. L'individu est alors de caractère masculin, mais infertile. Patients who are using testosterone replacement therapy should work one-on-one with an endocrinologist. We take the information we share seriously. It occurs when a male baby is born with more than required or extra X chromosomes. Androgen therapy (types of testosterone) is the most common form of treatment for Klinefelter syndrome and can have a number of positive effects, including improving sex drive, promoting hair growth, increasing muscle strength and energy levels, and reducing the likelihood of osteoporosis. Stevens-Johnson Syndrome Genetic Disorder, Duchenne Muscular Dystrophy: Genetic Disorder. Diagnosing Klinefelter syndrome based on symptoms alone can be difficult, and there is no standard guideline for clinical diagnosis. 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). While there is no cure for sex chromosome changes caused by Klinefelter syndrome, treatments can help minimize effects, especially when … Fertility Treatment. What is a Haplotype? This type of Klinefelter syndrome is called mosaic Klinefelter syndrome. 2. Genetic counselors play a vital role in the process of understanding your test results. Men with this syndrome tend to have enlarged breast tissues. Early detection and treatment improves your or your child’s ability to lead a productive life. Men with this syndrome tend to have enlarged breast tissues. This can be managed by assisted reproductive procedure and may make possible to … For this procedure, a surgeon removes sperm from the testes and places one sperm into an egg. The primary features are infertility and small poorly functioning testicles. Boys with Klinefelter syndrome may also have difficulty fitting in socially and interacting with their peers as personality traits often include being shy and quiet. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Some may develop anxiety, depression, behavioral problems, or experience difficulty with social skills or attention. The earlier treatment begins, the better the outcomes. About Klinefelter Syndrome Klinefelter Syndrome (KS) is a condition that occurs in men who have one or more extra X chromosomes. Talking with others who have the condition or a child with the condition can provide a sense of relief and understanding. This is because the most common symptom associated with this condition is infertility, occuring in 90% of cases. One of the most interesting facts about Klinefelter syndrome is that the condition can also occur in wild and domesticated animals. Individuals with Klinefelter Syndrome will have low levels of testosterone. There are also Klinefelter support groups for parents as well. Variants of … We have a new Website. During the test, cells are taken from the chorionic villi in the placenta. These tests are not typically medically verified and should not be used to make medical decisions. Is testosterone therapy right for every XXY male? Chromosomes are tiny, but very important, structures in every cell. This treatment should begin at puberty or as soon after as possible. When they enter school they might experience some learning disabilities such as mild delays in their speech and language development or difficulty reading. Treatment List for Klinefelter syndrome. Approximately 50% of men with Klinefelter syndrome produce sperm but not in quantities large enough to fertilize an egg naturally. NICHD Policies for Data & Safety Monitoring, Clinician-Scientist Investigator (CSI) Curriculum, Office of Administrative Management (OAM), Office of Legislation and Public Policy (OLPP), Office of Science Policy, Reporting, and Program Analysis (OSPRA), NCMRR Funding Opportunity Announcements (FOAs), Snapshot of Pregnancy & Infant Development Advances, Snapshot of Adult & Family Health Advances, National Advisory Child Health and Human Development (NACHHD) Council, National Advisory Board on Medical Rehabilitation Research (NABMRR), Task Force on Research Specific to Pregnant Women and Lactating Women (PRGLAC), For Researchers and Health Care Providers, https://employees.nih.gov/pages/coronavirus/, Early Intervention Program for Infants and Toddlers with Disabilities, https://www.hormone.org/diseases-and-conditions/low-testosterone, March is Trisomy Awareness Month: Time to Get "DS Connected", Picture This: NICHD Support for Neuroscience Research, National Child & Maternal Health Education Program, Build and maintain bone strength and help prevent osteoporosis in later years, Produce a more masculine appearance, which can also help relieve anxiety and depression, Through the skin, also called transdermal (pronounced. 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. How many rare diseases are there? L'individu présente alors deux chromosomes X et un chromosome Y, soit 47 chromosomes au lieu de 46. Occupational or behavioral therapists might be able to assist with these skills. Prognosis for Klinefelter Syndrome. Although the majority of boys with KS grow up to live as males, some develop atypical gender identities. When a diagnosis is made, treatment is based on the signs and symptoms present in each person, especially the problems related to hypogonadism, gynecomastia, and psychosocial problems. While life expectancy isn’t believed to be heavily impacted by Klinefelter syndrome, living with the condition can be difficult. As men, most guys with Klinefelter syndrome can have sex, usually with the help of testosterone treatment. Le syndrome de Klinefelter ou 47,XXY est une aneuploïdie qui se caractérise chez l'homme par un chromosome sexuel X supplémentaire. This type of therapy may be needed to build social skills and manage emotions. Klinefelter syndrome is one of the most common chromosomal disorders, affecting 1/500 to 1/1,000 newborn males. If you are an adult receiving this diagnosis you might wonder how you did not know. They include: As boys get older they may also find that they have a low or decreased sex drive. There is no way to prevent Klinefelter syndrome. Once the child reaches puberty other physical signs can appear often due to low levels of testosterone. Treatment One of the hallmarks of Klinefelter syndrome is hypergonadotropic hypogonadism, a condition that results in testosterone deficiency. Additionally, up to 1 in 4 children with Klinefelter syndrome are diagnosed with a psychiatric disturbance. Receiving a diagnosis of Klinefelter Syndrome might be surprising. Approximately 50% of individuals with Klinefelter Syndrome will develop metabolic syndrome which is a combination of at least three of the following: Type 2 diabetes, high blood pressure, increased belly fat, high cholesterol and triglycerides. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. There’s also an increased frequency of other diseases and medical conditions associated with Klinefelter syndrome. Because these tests come with a small risk of miscarriage, their use is very conservative. Management of Klinefelter Syndrome: The management of Klinefelter syndrome in the Allopathy medicine system is done with Psychological counseling, Fertility treatment, Breast tissue removal, and Testosterone replacement therapy. About one-half of XXY males' chromosomes have low testosterone levels.4 These levels can be raised by taking supplemental testosterone. The odds may be improved by freezing sperm in adolescence when the sperm is healthier. The list of treatments mentioned in various sources for Klinefelter syndrome includes the following list. One of these is through testosterone treatment. Klinefelter syndrome is actually the most common chromosomal abnormality among males. For most individuals with Klinefelter Syndrome, the signs and symptoms tend to be mild, often going undiagnosed until puberty or adulthood. En Español. Testosterone replacement therapy can be administered by injection, patch, pill or topical cream. This is one of the most common Klinefelter syndrome treatments since many of the symptoms stem from low testosterone. Many boys with Klinefelter syndrome — also known as XXY syndrome — have no signs or symptoms, and some don't even know they have it until later in life.. Always seek professional medical advice about any treatment or change in treatment plans. Speech therapists . Klinefelter syndrome: Is the Diagnosis Correct? Klinefelter Syndrome Treatment. There are genetic tests that can diagnose Klinefelter syndrome. It’s commonly used to treat depression and anxiety. Testosterone therapy can help with many of the symptoms of Klinefelter syndrome. For this reason, it is important to talk to your doctor about any medical symptoms or genetic tests you are considering. Amniocentesis - Amniocentesis testing involves a syringe being inserted into the placenta to extract a small amount of amniotic fluid that’s tested for chromosomal abnormalities. It’s also commonly referred to as XXY syndrome or 47, XXY. Come follow the journey. 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. The genetic disorder is neither dominant nor recessive because Klinefelter syndrome is not inherited 1. Klinefelter syndrome treatment. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Many DNA tests are available as at-home tests. KS was first described in 1942 as an endocrine disorder.5. For instance, it is possible that the resulting child might have the XXY condition. 1. Gender identity should be discussed with health care specialists before starting treatment.5. Boys and men with KS can benefit by visiting therapists who are experts in areas such as coordination, social skills, and coping. In addition to genetic testing, hormone tests can also be used to measure various hormone levels, including testosterone. Luckily, the treatment options noted above can greatly improve quality of life and prevent some complications from occurring. Compared to many other chromosomal disorders, the prognosis of Klinefelter syndrome is generally good. Even if there were, because most cases aren’t diagnosed until later in life, preventative measures may not help. Individuals with this condition should see endocrinology to discuss testosterone therapy. 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. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. And for goodness sake, don't smoke. However, numerous clinical studies have failed to show the relationship between breast cancer and gynecomastia. 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. Fertility Treatment. Additionally, individuals with Klinefelter Syndrome may struggle with mental health. It’s best to begin testosterone replacement therapy at the time of puberty so that boys develop as normally as possible. Treating Language and Learning Symptoms Surgery - for enlarged male breasts. What is the treatment for Klinefelter syndrome? Puberty is a time of rapid physical and psychological change, and treatment can successfully limit symptoms. Physical therapy is used to build strength and motor skills. Additionally, individuals are at an increased risk for breast cancer, lung disease, and varicose veins. If treatment is needed, it’s recommended that they begin as early as possible, preferably during puberty or childhood. General practitioners. Always seek professional medical advice about any treatment or change in treatment plans. This article was scientifically reviewed by Brenna Bentley. A recent Danish study indicated that Klinfelter syndrome was present in 153 per 100,000 babies tested.3. Sometimes the child might have a small penis, small testicles (hypogonadism), undescended testicles, or a small opening on the underside of the penis. For information on how to find an endocrinologist, see the Resources and Publications section. Due poor or no sperm count, the majority of the men with Klinefelter syndrome are found to be infertile. XXY males who are thinking about mastectomy should discuss all the risks and benefits with their health care provider. But this type of treatment is not suitable because surgery causes greater pain and also costs higher. More research on this is needed before a consensus can be established. In addition, testosterone supplementation will not increase testicular size, decrease breast growth, or correct infertility. , more recent research estimates that life expectancy is shortened by only klinefelter syndrome treatment costs years 4 treated necessary. 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