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. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). Klinefelter syndrome may affect up to 1 in 500 male births in the world today.2. It is estimated that one in every 500 males are born with one or more extra X chromosomes. There is evidence that indicates women who give birth over the age of 35 are slightly more likely to have a son with Klinefelter syndrome. Surgery - for enlarged male breasts. 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. About Klinefelter Syndrome Klinefelter Syndrome (KS) is a condition that occurs in men who have one or more extra X chromosomes. Read our guide here. 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. One of the most interesting facts about Klinefelter syndrome is that the condition can also occur in wild and domesticated animals. It is important to know that your genes are not your destiny. 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). Men who have enlarged breasts are at an increased risk of getting breast cancer. Testosterone; Educational support - for language difficulties. There is a large community of families with this condition who can provide guidance and support. None of the products or services offered through the website are necessarily safe, suggested, or appropriate for you. People with the condition are sometimes referred to as X chromatin positive males. 1. A recent Danish study indicated that Klinfelter syndrome was present in 153 per 100,000 babies tested.3. Endodontic treatment in three taurodontic teeth associated with 48,XXXY Klinefelter syndrome: A review and case report. Klinefelter Syndrome Treatment. Klinefelter syndrome treatment. Always seek professional medical advice about any treatment or change in treatment plans. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontolog y , 105 (5), 670-677. In addition, the procedure is expensive and is often is not covered by health insurance plans. Klinefelter syndrome is one of the most common chromosomal disorders, affecting 1/500 to 1/1,000 newborn males. In Klinefelter’s syndrome, there are 47 chromosomes present rather than 46 chromosomes found in genetically normal humans. Men with Klinefelter syndrome can now have children, if they want, with new forms of in-vitro fertilisation. Klinefelter syndrome is considered to be a rare disease. Testosterone therapy can help with many of the symptoms of Klinefelter syndrome. We take the information we share seriously. The genetic disorder is neither dominant nor recessive because Klinefelter syndrome is not inherited 1. Variants of … Klinefelter syndrome may affect up to 1 in 500 male births in the world today.2. As the child moves into childhood, other symptoms may arise.1 Individuals with this condition tend to be taller than average, have more fat around their stomach (abdominal adiposity) and might have a curved pinky finger or flat feet. When adult men have breasts, they are at higher risk for breast cancer than other men and need to be checked for this condition regularly. Chromosomes are packages of genes found in every cell in the body. Individuals with this condition might have lower self-esteem than their peers and need additional emotional support. Symptoms are often subtle, and many people do not realize they are affected. During the test, cells are taken from the chorionic villi in the placenta. Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. Assisted reproductive technology (ART) procedures can help some men with Klinefelter syndrome overcome infertility issues. 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 As men, most guys with Klinefelter syndrome can have sex, usually with the help of testosterone treatment. Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. The most common form of Klinefelter syndrome is the single extra X chromosome, XXY chromosomes in most cells in the body. 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. What is Klinefelter syndrome? For these males, supplemental testosterone may not be suitable. Come follow the journey. General practitioners. Individuals with this condition should see endocrinology to discuss testosterone therapy. Klinefelter syndrome is actually the most common chromosomal abnormality among males. Drugs used to treat Klinefelter Syndrome The following list of medications are in some way related to, or used in the treatment … 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. There are also Klinefelter support groups for parents as well. 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. They might be slow to learn to talk, read, and write, and they might have difficulty processing what they hear. Seeing a psychologist or psychiatrist can help alleviate emotional and mental problems associated with having Klinefelter syndrome. The list of treatments mentioned in various sources for Klinefelter syndrome includes the following list. Treatment List for Klinefelter syndrome. Treatment involves the targeted administration of male hormones (androgens), such as testosterone enanthate, cypionate, or androgel. One of the most successful ART procedures is testicular sperm extraction with intracytoplasmic sperm injection. 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. Although the majority of boys with KS grow up to live as males, some develop atypical gender identities. There are genetic tests that can diagnose Klinefelter syndrome. This booklet offers information for expectant parents first learning about Klinefelter syndrome or 47,XXY, which is a chromosome condition. Most commonly, the physician will take a blood sample and send it off for chromosome analysis. All individuals with Klinefelter Syndrome will have a Y chromosome which means they will all be males. These tests are also known as "direct-to-consumer genetic tests". 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. But, because these symptoms may be mild, many XXY males will not be eligible for these services. In this case, if the Klinefelter patient wishes to reduce the social anxiety of having enlarged breasts, the only current treatment is surgery. Because it is a surgical procedure, mastectomy carries a variety of risks. The earlier treatment begins, the better the outcomes. Men with this syndrome tend to have enlarged breast tissues. What are the treatments for symptoms in Klinefelter syndrome (KS)? As with any invasive surgery, there are risks involved with gynecomastia that should be discussed with a qualified surgeon. About one-half of XXY males' chromosomes have low testosterone levels.4 These levels can be raised by taking supplemental testosterone. Advances in assistive reproductive technology (ART) have made it possible for some men with KS to conceive. 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 others, it can be difficult to cope with the side effects, especially during adolescence. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. A recent Danish study indicated that Klinfelter syndrome was present in 153 per 100,000 babies tested.3. They might also have questions about their masculinity or gender identity.9 In these instances, consulting a psychologist, counselor, or psychiatrist may be helpful. HRT Doctors Group has extensive experience with Klinefelter Syndrome Treatment using Testosterone Replacement Therapy. Since that time, doctors and researchers have come to learn it’s the most common chromosomal abnormality affecting newborn males. Treatment may include: Testosterone replacement: About half of people with … But, sperm are found in more than 50% of men with KS.6. 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 An estimated 53-55% of conceptions affected with Klinefelter syndrome are expected to survive to term.4. Treatment One of the hallmarks of Klinefelter syndrome is hypergonadotropic hypogonadism, a condition that results in testosterone deficiency. Early detection and treatment improves your or your child’s ability to lead a productive life. Learn more about Klinefelter syndrome, including how it affects men's hormone health and what treatment options are available. Because these boys can be quiet and cooperative in the classroom, teachers may not notice the need for help. It’s best to begin testosterone replacement therapy at the time of puberty so that boys develop as normally as possible. Klinefelter syndrome is one of the most common chromosome conditions in newborns. And for goodness sake, don't smoke. It is a genetic condition in which males are born with one or more extra X chromosomes. Breast Tissue Removal. Treatment involves the targeted administration of male hormones (androgens), such as testosterone enanthate, cypionate, or androgel. 2. It’s a question that many men ask after being diagnosed. This type of therapy may be needed to build social skills and manage emotions. Living with Klinefelter syndrome is much easier when intervention starts early. It results from an unequal sharing of sex chromosomes soon after fertilization. This treatment should begin at puberty or as soon after as possible. 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. This treatment should begin at puberty or as soon after as possible. L'individu présente alors deux chromosomes X et un chromosome Y, soit 47 chromosomes au lieu de 46. 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. That's why we've done the research. With regard to education, some boys with KS will qualify to receive state-sponsored special needs services to address their developmental and learning symptoms. It’s estimated that 10-39% of men with Klinefelter have type 2 diabetes. 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. There are even fertility treatments available for men with Klinefelter syndrome as most men with this condition have no or very little sperm. Some may develop anxiety, depression, behavioral problems, or experience difficulty with social skills or attention. Let us start by saying, Klinefelter is no one's fault. 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. You can find Klinefelter syndrome support groups through your primary care physician. Drugs used to treat Klinefelter Syndrome The following list of medications are in some way related to, or used in the treatment … Men with Klinefelter syndrome produce little or no sperm production. More research on this is needed before a consensus can be established. One of these is through testosterone treatment. 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. When a male with XXY uses infertility treatments to conceive, their child is at a higher risk of having the condition as well. KS was first described in 1942 as an endocrine disorder.5. Surgery - for enlarged male breasts. Klinefelter syndrome is one of the genetic disorders in males. 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." Mitral valve prolapse tends to occur more commonly in individuals with Klinefelter Syndrome than those without, however this heart condition may pose no medical problems, or it could be severe enough to require surgery. The list of treatments mentioned in various sources for Klinefelter syndrome includes the following list. This syndrome affects the testicular growth, results in smaller testicles and may cause reduced muscle mass, reduced facial and body hair. Men with Klinefelter’s Syndrome also have treatments for enlarged breasts and infertility. … Klinefelter syndrome is a condition that requires a multidisciplinary treatment approach involving one or more of the following specialists: Pediatricians. Boys and men with KS can benefit by visiting therapists who are experts in areas such as coordination, social skills, and coping. 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. Some school districts and health centers might also offer these types of skill-building programs or classes. Sometimes symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less body hair, smaller genitals, breast growth, and less interest in sex. This is one of the most common Klinefelter syndrome treatments since many of the symptoms stem from low testosterone. Specifically, infertility is due to a low sperm count or a complete lack of sperm. While ART procedures have improved in recent years, there’s still no guarantee they will work. Endodontic treatment in three taurodontic teeth associated with 48,XXXY Klinefelter syndrome: A review and case report. One of these is through testosterone treatment. Additionally, up to 1 in 4 children with Klinefelter syndrome are diagnosed with a psychiatric disturbance. It's important to remember that because symptoms can be mild, many males with KS are never diagnosed ore treated. 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. Occupational therapy helps with functioning in social settings, work environments and school. 1. Often, symptoms are subtle and subjects do not realize they are affected. Klinefelter syndrome is the presence of an extra X chromosome in a male. While there is no cure for sex chromosome changes caused by Klinefelter syndrome, treatments can help minimize effects, especially when … Treatment List for Klinefelter syndrome. Males with Klinefelter syndrome (KS) typically have elevated gonadotropins (follicle stimulating hormone [FSH] and luteinizing hormone [LH]), low-normal testosterone, eunuchoid body habitus, small hyalinized testes, gynecomastia, and azoospermia, with the majority having the 47,XXY chromosomal abnormality ().KS is the most common karyotypic anomaly diagnosed in infertile men … Klinefelter syndrome and medical treatment: hypogonadism and beyond ... costs and benefits of such an approach in KS.24 The genetic background of KS is the presence RI H[WUD ; FKURPRVRPH V ZLWK RI DIIHFWHG individuals having the 47,XXY karyotype and the remaining cases presenting with either 47,XXY/46 XY mosaicism or multiple X chromosome aneuploidy, often also with additional Y … Klinefelter syndrome is classed as a disability when a child has learning disabilities. Learn more about Klinefelter syndrome, including how it affects men's hormone health and what treatment options are available. 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. When a child is born with Klinefelter Syndrome, they will likely look just like any newborn baby. Klinefelter syndrome: Is the Diagnosis Correct? Diagnosing Klinefelter syndrome based on symptoms alone can be difficult, and there is no standard guideline for clinical diagnosis. Boys and men with Klinefelter syndrome have a 2-40 fold increased risk of getting a bone fracture. The primary feature is sterility. 1. Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. Even if there were, because most cases aren’t diagnosed until later in life, preventative measures may not help. There's no cure for Klinefelter syndrome, but some of the problems associated with the condition can be treated if necessary. Men with Klinefelter syndrome can now have children, if they want, with new forms of in-vitro fertilisation. Many DNA tests are available as at-home tests. Physical therapy is used to build strength and motor skills. For this procedure, a surgeon removes sperm from the testes and places one sperm into an egg. Fertility Treatment. Chromosome analysis. However, more recent research estimates that life expectancy is shortened by only 2 years 4. The American Society of Plastic Surgeons’ 2018 Plastic Surgery Statistics notes that gynecomastia (breast reduction in men) increased 22% since 2000 with 24,753 procedures being performed in 2018. Parents might need to bring these types of problems to the teacher's attention. Read more about our partner Cure Rare Disease and the fight against Duchenne’s. Individuals with this condition are also at an increased risk to develop autoimmune disorders such as rheumatoid arthritis, systemic lupus, and Sjogren Syndrome. The syndrome can affect boys and men at different stages of life and their physical, language, and social development. 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. Klinefelter syndrome treatment with homeopathy is also prominent for treating secondary symptoms. There is a study that claims that timely and planned support allotted to young men with this condition can restore present poor psychosocial effects. 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. Chromosomes carry all of our genes, and genes give instructions for our bodies to grow and function. No approved drug treatment exists for this condition of over-developed breast tissue, termed gynecomastia. Treating Language and Learning Symptoms Treatment Options for Klinefelter Syndrome . Most individuals with this condition will lead healthy and meaningful lives. Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. Klinefelter syndrome and related XY variant syndromes are not uncommon. Always seek professional medical advice about any treatment or change in treatment plans. However, these symptoms do not occur in everyone with this condition. Some, but not all, children with KS have language development and learning delays. What is a Haplotype? The information on this website is not to be used as a substitute for medical advice, diagnosis, and/or treatment. What treatments are available? 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. METHODS: A Markov model was developed to assess cost-effectiveness of testosterone undecanoate (TU) depot injection treatment compared with no treatment. For instance, it is possible that the resulting child might have the XXY condition. Males with Klinefelter syndrome should be seen by a team of health care providers. Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. Coming soon! Where Can I Find Clinical Care Recommendations and Practice Guidelines? Get the latest research information from NIH: https://www.nih.gov/coronavirus 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. The earlier in life that KS symptoms are recognized and treated, the more likely it is that the symptoms can be reduced or eliminated. Speech therapy should be started as soon as possible to maximize its effectiveness. For this reason, it is important to talk to your doctor about any medical symptoms or genetic tests you are considering. Klinefelter syndrome is the presence of an extra X chromosome in a male. 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. Because these tests come with a small risk of miscarriage, their use is very conservative. However, new studies have found that with the help of assisted reproductive therapy, some individuals with Klinefelter Syndrome can father children. Treatment can help males overcome many of the physical, social, and learning problems that are part of the syndrome. Treatment Options for Klinefelter Syndrome . The only way to verify Klinefelter syndrome is with testing. Klinefelter syndrome is a genetic condition that affects males. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. This type of Klinefelter syndrome is called mosaic Klinefelter syndrome. For males whose testosterone level is low to normal, the benefits of taking testosterone are less clear than for when testosterone is very low. Approximately 5% of Klinefelter syndrome cases detected at amniocentesis r… The exact exercises used will vary. What are the treatments for symptoms in Klinefelter syndrome (KS)? Treating Physical Symptoms What Is Klinefelter Syndrome? How many rare diseases are there? Le syndrome de Klinefelter ou 47,XXY est une aneuploïdie qui se caractérise chez l'homme par un chromosome sexuel X supplémentaire. Puberty is a time of rapid physical and psychological change, and treatment can successfully limit symptoms. Importantly, there is no guarantee the procedure will work. It’s commonly used to treat depression and anxiety. There are various environmental and genetic factors working together to shape you. Individuals with Klinefelter Syndrome will have low levels of testosterone. For instance, boys with KS may need help with social skills and interacting in groups. Additionally,  you are also not alone. Living with XXY became a NonProfit 501(c)(3) Charitable organization on November 6th, 2019. Men with some sperms in their semen, the intracytoplasmic sperm injection (ICSI) can be used to impregnate their partners. Treatment may include: Testosterone replacement: About half of people with … The type of treatment needed depends on the type of symptoms being treated. Testosterone therapy can help with many of the symptoms of Klinefelter syndrome. 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. Treatments for Klinefelter syndrome. Is Klinefelter syndrome dominant or recessive? Luckily, the treatment options noted above can greatly improve quality of life and prevent some complications from occurring. If you are a parent of a child recently diagnosed you might be wondering what the future holds. The primary features are infertility and small poorly functioning testicles. Klinefelter syndrome treatment. 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 Fertility Treatment. Klinefelter syndrome statistics show the health problems associated with the condition that can lead to death include: At this time there is no cure for Klinefelter syndrome because chromosomes cannot be removed from cells. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. We have a new Website. But this type of treatment is not suitable because surgery causes greater pain and also costs higher. 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. Klinefelter's Syndrome Treatment This syndrome is non-curable; however there are available treatments to cure the symptoms brought by Klinefelter's syndrome. 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. The mastectomy lowers the risk of cancer and can reduce the social stress associated with XXY males having enlarged breasts. The therapy will help with the development of hair growth, a deeper voice, increased muscle tone, bone strength and penis growth. Fractures are another regular occurrence due to weakened bones (osteoporosis). En Español. However, treatment can bring benefits at any age. Klinefelter Syndrome- one extra copy of an X chromosome (47,XXY) Other disorders of XY chromosomes (including 48,XXXY, 49,XXXXY, etc.) 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; The emotional impact of male infertility 4th July 2020 For most individuals with Klinefelter Syndrome, the signs and symptoms tend to be mild, often going undiagnosed until puberty or adulthood. We have a new Website. Review our Editorial Policy Here. Can males with Klinefelter syndrome have babies? Some research suggests that Klinefelter syndrome is becoming more common and may be more prevalent in some populations. 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