Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. Due poor or no sperm count, the majority of the men with Klinefelter syndrome are found to be infertile. Stevens-Johnson Syndrome Genetic Disorder, Duchenne Muscular Dystrophy: Genetic Disorder. There is no cure for KS (Klinfelter Syndrome). Diagnosing Klinefelter syndrome in utero or at birth is rare. 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. Klinefelter syndrome is a condition that requires a multidisciplinary treatment approach involving one or more of the following specialists: Pediatricians. This booklet offers information for expectant parents first learning about Klinefelter syndrome or 47,XXY, which is a chromosome condition. Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. Because these boys can be quiet and cooperative in the classroom, teachers may not notice the need for help. As men, most guys with Klinefelter syndrome can have sex, usually with the help of testosterone treatment. Come follow the journey. Additionally,  you are also not alone. KS was first described in 1942 as an endocrine disorder.5. Men who have enlarged breasts are at an increased risk of getting breast cancer. Klinefelter Syndrome- one extra copy of an X chromosome (47,XXY) Other disorders of XY chromosomes (including 48,XXXY, 49,XXXXY, etc.) Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. What treatments are available? 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. 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. There is not anything someone did or did not do to cause this. For this procedure, a surgeon removes sperm from the testes and places one sperm into an egg. 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. They might be slow to learn to talk, read, and write, and they might have difficulty processing what they hear. However, new studies have found that with the help of assisted reproductive therapy, some individuals with Klinefelter Syndrome can father children. Treating Social and Behavioral Symptoms. The syndrome can affect boys and men at different stages of life and their physical, language, and social development. But various interventions, such as speech therapy and educational assistance, can help to reduce and even eliminate these difficulties. Some health care providers recommend surgery—called mastectomy (pronounced ma-STEK-tuh-mee)—to remove or reduce the breasts of XXY males. Treatment involves the targeted administration of male hormones (androgens), such as testosterone enanthate, cypionate, or androgel. 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. And for goodness sake, don't smoke. Klinefelter's Syndrome Treatment This syndrome is non-curable; however there are available treatments to cure the symptoms brought by Klinefelter's syndrome. 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. Where Can I Find Clinical Care Recommendations and Practice Guidelines? Speech therapy should be started as soon as possible to maximize its effectiveness. Individuals with Klinefelter Syndrome will have low levels of testosterone. Testosterone replacement therapy (TRT) TRT involves testosterone administered as gels, skin patches or injections. Klinefelter syndrome treatment costs can run into the thousands if surgery or repeated treatments are needed. Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. Treatments for Klinefelter syndrome. It’s one of the most common types of cosmetic surgery for men. 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. Can males with Klinefelter syndrome have babies? How many rare diseases are there? Most individuals with this condition live their whole lives without receiving a diagnosis. Testosterone therapy can help with many of the symptoms of Klinefelter syndrome. The mastectomy lowers the risk of cancer and can reduce the social stress associated with XXY males having enlarged breasts. For information on how to find an endocrinologist, see the Resources and Publications section. 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. Men who have Klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's syndrome. They might also have questions about their masculinity or gender identity.9 In these instances, consulting a psychologist, counselor, or psychiatrist may be helpful. Parents might need to bring these types of problems to the teacher's attention. It's important to remember that because symptoms can be mild, many males with KS are never diagnosed ore treated. Causes of death in X chromatin positive males (Klinefelter's syndrome). Most boys born with Klinefelter syndrome can lead normal productive lives with proper treatment and support. 1. Treating Language and Learning Symptoms Due poor or no sperm count, the majority of the men with Klinefelter syndrome are found to be infertile. Early detection and treatment improves your or your child’s ability to lead a productive life. 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. Get the latest research information from NIH: https://www.nih.gov/coronavirus Infertility specialists. Breast reduction surgery can be used to remove excess breast tissue. A recent Danish study indicated that Klinfelter syndrome was present in 153 per 100,000 babies tested.3. Men with Klinefelter’s Syndrome also have treatments for enlarged breasts and infertility. In this issue of the Journal, Zganjar et al. Patients who are using testosterone replacement therapy should work one-on-one with an endocrinologist. For this reason, it is important to talk to your doctor about any medical symptoms or genetic tests you are considering. But, sperm are found in more than 50% of men with KS.6. In addition, the procedure is expensive and is often is not covered by health insurance plans. Speech therapists . If a child’s speech is impacted by Klinefelter syndrome therapy may be needed. None of the products or services offered through the website are necessarily safe, suggested, or appropriate for you. 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. 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. Cases where three or more X chromosomes are present are much less common, affecting just 1 in 50,000 newborn males. No approved drug treatment exists for this condition of over-developed breast tissue, termed gynecomastia. 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). Let us start by saying, Klinefelter is no one's fault. Men with Klinefelter syndrome can now have children, if they want, with new forms of in-vitro fertilisation. If the condition is suspected, then someone with medical genetics knowledge can order testing. One of the most successful ART procedures is testicular sperm extraction with intracytoplasmic sperm injection. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontolog y , 105 (5), 670-677. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. They include: As boys get older they may also find that they have a low or decreased sex drive. Klinefelter syndrome and related XY variant syndromes are not uncommon. Boys and men with Klinefelter syndrome have a 2-40 fold increased risk of getting a bone fracture. 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. Some research suggests that Klinefelter syndrome is becoming more common and may be more prevalent in some populations. Men with Klinefelter syndrome produce little or no sperm production. Learn more about Klinefelter syndrome, including how it affects men's hormone health and what treatment options are available. Hormone testing. Always seek professional medical advice about any treatment or change in treatment plans. Approximately 5% of Klinefelter syndrome cases detected at amniocentesis r… Some children experience the under development of their skeletal muscle which could lead to a delay in their motor development. 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. Treatment involves the targeted administration of male hormones (androgens), such as testosterone enanthate, cypionate, or androgel. Living with XXY became a NonProfit 501(c)(3) Charitable organization on November 6th, 2019. An estimated 53-55% of conceptions affected with Klinefelter syndrome are expected to survive to term.4. Connect with our licensed genetic counselors now. Once the child reaches puberty other physical signs can appear often due to low levels of testosterone. What are the treatments for symptoms in Klinefelter syndrome (KS)? Luckily, the treatment options noted above can greatly improve quality of life and prevent some complications from occurring. Is Klinefelter syndrome dominant or recessive? Come follow the journey. Since that time, doctors and researchers have come to learn it’s the most common chromosomal abnormality affecting newborn males. 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 may include examining the genital area and chest, performing tests to check reflexes, and assessing development and functioning.The main tests used to diagnose Klinefelter syndrome are: 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. Treatment List for Klinefelter syndrome. 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 In this case, if the Klinefelter patient wishes to reduce the social anxiety of having enlarged breasts, the only current treatment is surgery. Klinefelter syndrome treatment. Klinefelter syndrome is actually the most common chromosomal abnormality among males. In some cases, the physical symptoms are so mild the condition isn’t diagnosed until puberty or early adulthood. While life expectancy isn’t believed to be heavily impacted by Klinefelter syndrome, living with the condition can be difficult. METHODS: A Markov model was developed to assess cost-effectiveness of testosterone undecanoate (TU) depot injection treatment compared with no treatment. 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. There are various environmental and genetic factors working together to shape you. The only way to verify Klinefelter syndrome is with testing. A fertility specialist will remove sperm from the testes and insert one sperm into an egg. What Is Klinefelter Syndrome? XXY males who are thinking about mastectomy should discuss all the risks and benefits with their health care provider. Not all males with XXY condition benefit from testosterone therapy. It’s commonly used to treat depression and anxiety. But this type of treatment is not suitable because surgery causes greater pain and also costs higher. Even if there were, because most cases aren’t diagnosed until later in life, preventative measures may not help. Puberty is a time of rapid physical and psychological change, and treatment can successfully limit symptoms. It’s a question that many men ask after being diagnosed. For others, it can be difficult to cope with the side effects, especially during adolescence. This treatment should begin at puberty or as soon after as possible. 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. These tests are also known as "direct-to-consumer genetic tests". 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. This is because the most common symptom associated with this condition is infertility, occuring in 90% of cases. Klinefelter syndrome is the presence of an extra X chromosome in a male. Between 95% and 99% of XXY men are infertile because they do not produce enough sperm to fertilize an egg naturally. For instance, it is possible that the resulting child might have the XXY condition. 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 Klinefelter syndrome is the presence of an extra X chromosome in a male. Although the majority of boys with KS grow up to live as males, some develop atypical gender identities. When a child is born with Klinefelter Syndrome, they will likely look just like any newborn baby. Typically, they are only recommended when there is a high risk for another serious chromosomal problem. 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." Il s'agit d'un des cas d'intersexuation1. 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. Advances in assistive reproductive technology (ART) have made it possible for some men with KS to conceive. Seeing a psychologist or psychiatrist can help alleviate emotional and mental problems associated with having Klinefelter syndrome. However, more recent research estimates that life expectancy is shortened by only 2 years 4. 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 syndrome affects the testicular growth, results in smaller testicles and may cause reduced muscle mass, reduced facial and body hair. Boys and men with KS can benefit by visiting therapists who are experts in areas such as coordination, social skills, and coping. Often, symptoms are subtle and subjects do not realize they are affected. Klinefelter syndrome treatment. With regard to education, some boys with KS will qualify to receive state-sponsored special needs services to address their developmental and learning symptoms. Occupational therapy helps with functioning in social settings, work environments and school. About Klinefelter Syndrome Klinefelter Syndrome (KS) is a condition that occurs in men who have one or more extra X chromosomes. Often, symptoms are subtle and subjects do not realize they are affected. One of these is through testosterone treatment. When they enter school they might experience some learning disabilities such as mild delays in their speech and language development or difficulty reading. It affects between 1 in 500 and 1 in 1,000 newborn males. It is important to know that your genes are not your destiny. This type of therapy may be needed to build social skills and manage emotions. This is one of the most common Klinefelter syndrome treatments since many of the symptoms stem from low testosterone. Learn more about the causes, symptoms, and treatment of Klinefelter syndrome. There's no cure for Klinefelter syndrome, but some of the problems associated with the condition can be treated if necessary. Individuals with this condition are also at an increased risk to develop autoimmune disorders such as rheumatoid arthritis, systemic lupus, and Sjogren 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 … One of the most interesting facts about Klinefelter syndrome is that the condition can also occur in wild and domesticated animals. L'individu présente alors deux chromosomes X et un chromosome Y, soit 47 chromosomes au lieu de 46. The only time it occurs is when one of two tests are done, usually for another reason. What are the treatments for symptoms in Klinefelter syndrome (KS)? Men with this syndrome tend to have enlarged breast tissues. Most individuals with this condition will lead healthy and meaningful lives. Testosterone replacement therapy can be administered by injection, patch, pill or topical cream. Because it is a surgical procedure, mastectomy carries a variety of risks. The information on this website is not to be used as a substitute for medical advice, diagnosis, and/or treatment. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. 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. Coming soon! Occupational or behavioral therapists might be able to assist with these skills. Assisted reproductive technology (ART) procedures can help some men with Klinefelter syndrome overcome infertility issues. 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. About one-half of XXY males' chromosomes have low testosterone levels.4 These levels can be raised by taking supplemental testosterone. In many cases, men with Klinefelter syndrome can’t father a child naturally on their own. 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. The primary feature is sterility. A boy can also be born with and extra X chromosome in some of their cells while the others have the normal XY chromosome. The earlier treatment begins, the better the outcomes. Endodontic treatment in three taurodontic teeth associated with 48,XXXY Klinefelter syndrome: A review and case report. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. 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). 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.. Psychologists and/or psychiatrists. 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. Overview of Klinefelter Syndrome, 47,XXY. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. You can find Klinefelter syndrome support groups through your primary care physician. Treatment can help boys and men with Klinefelter live happy, healthy lives. Treatment can help males overcome many of the physical, social, and learning problems that are part of the syndrome. HRT Doctors Group has extensive experience with Klinefelter Syndrome Treatment using Testosterone Replacement Therapy. For this reason, it is important to talk to your doctor about any medical symptoms or genetic tests you are considering. It’s also commonly referred to as XXY syndrome or 47, XXY. Living with XXY became a NonProfit 501(c)(3) Charitable organization on November 6th, 2019. Drugs used to treat Klinefelter Syndrome The following list of medications are in some way related to, or used in the treatment … This could mean their sex chromosomes could be XXY, XXXY, XXXXY, or something along those lines. In addition to genetic testing, hormone tests can also be used to measure various hormone levels, including testosterone. 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