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. Treatment Options for Klinefelter Syndrome. What are the treatments for symptoms in Klinefelter syndrome (KS)? However, numerous clinical studies have failed to show the relationship between breast cancer and gynecomastia. Although the majority of boys with KS grow up to live as males, some develop atypical gender identities. Endodontic treatment in three taurodontic teeth associated with 48,XXXY Klinefelter syndrome: A review and case report. When they enter school they might experience some learning disabilities such as mild delays in their speech and language development or difficulty reading. Physical therapy is used to build strength and motor skills. What is the treatment for Klinefelter syndrome? For most individuals with Klinefelter Syndrome, the signs and symptoms tend to be mild, often going undiagnosed until puberty or adulthood. However, more recent research estimates that life expectancy is shortened by only 2 years 4. Treatment may include: Testosterone replacement: About half of people with … Treating Language and Learning Symptoms Individuals with this condition should see endocrinology to discuss testosterone therapy. Klinefelter syndrome treatment costs can run into the thousands if surgery or repeated treatments are needed. None of the products or services offered through the website are necessarily safe, suggested, or appropriate for you. Some children experience the under development of their skeletal muscle which could lead to a delay in their motor development. An estimated 53-55% of conceptions affected with Klinefelter syndrome are expected to survive to term.4. Puberty is a time of rapid physical and psychological change, and treatment can successfully limit symptoms. But this type of treatment is not suitable because surgery causes greater pain and also costs higher. 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 mastectomy lowers the risk of cancer and can reduce the social stress associated with XXY males having enlarged breasts. 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 KS was first described in 1942 as an endocrine disorder.5. There is no drug that can currently reduce the size of breast tissue. It’s best to begin testosterone replacement therapy at the time of puberty so that boys develop as normally as possible. Speech therapy should be started as soon as possible to maximize its effectiveness. Learn more about Klinefelter syndrome, including how it affects men's hormone health and what treatment options are available. Is testosterone therapy right for every XXY male? Importantly, there is no guarantee the procedure will work. Always seek professional medical advice about any treatment or change in treatment plans. For this procedure, a surgeon removes sperm from the testes and places one sperm into an egg. Testosterone replacement therapy can be administered by injection, patch, pill or topical cream. With regard to education, some boys with KS will qualify to receive state-sponsored special needs services to address their developmental and learning symptoms. There are various environmental and genetic factors working together to shape you. We have a new Website. Treatment involves the targeted administration of male hormones (androgens), such as testosterone enanthate, cypionate, or androgel. Klinefelter syndrome is one of the most common chromosomal disorders, affecting 1/500 to 1/1,000 newborn males. 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. Klinefelter syndrome may affect up to 1 in 500 male births in the world today.2. These tests are not typically medically verified and should not be used to make medical decisions. If you are an adult receiving this diagnosis you might wonder how you did not know. More research on this is needed before a consensus can be established. Men with Klinefelter syndrome can now have children, if they want, with new forms of in-vitro fertilisation. Treatments for Klinefelter syndrome. Treatment Options for Klinefelter Syndrome . 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. Can males with Klinefelter syndrome have babies? There are also Klinefelter support groups for parents as well. Fertility Treatment. It is a genetic condition in which males are born with one or more extra X chromosomes. Men with this syndrome tend to have enlarged breast tissues. It’s commonly used to treat depression and anxiety. Individuals with this condition might have lower self-esteem than their peers and need additional emotional support. There are treatment options to help men overcome the obstacles of low sperm count, but they are not always successful. Men with this condition should be screened for cancer regularly. Breast Tissue Removal. 1. This treatment should begin at puberty or as soon after as possible. 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 Early intervention can prevent some symptoms from occurring. 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. 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. XXY males who are thinking about mastectomy should discuss all the risks and benefits with their health care provider. It results from an unequal sharing of sex chromosomes soon after fertilization. This treatment should begin at puberty or as soon after as possible. If you are a parent of a child recently diagnosed you might be wondering what the future holds. Living with Klinefelter syndrome is much easier when intervention starts early. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. A fertility specialist will remove sperm from the testes and insert one sperm into an egg. Living with XXY became a NonProfit 501(c)(3) Charitable organization on November 6th, 2019. Treatment may include: Testosterone replacement: About half of people with … However, these symptoms do not occur in everyone with this condition. However, treatment can bring benefits at any age. 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. 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). 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." However, new studies have found that with the help of assisted reproductive therapy, some individuals with Klinefelter Syndrome can father children. But, sperm are found in more than 50% of men with KS.6. Only 50% of males with Klinefelter syndrome have low testosterone so levels should be checked before starting treatments. They might be slow to learn to talk, read, and write, and they might have difficulty processing what they hear. Drugs used to treat Klinefelter Syndrome The following list of medications are in some way related to, or used in the treatment … As men, most guys with Klinefelter syndrome can have sex, usually with the help of testosterone treatment. For instance, it is possible that the resulting child might have the XXY condition. 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.. There is no cure for KS (Klinfelter Syndrome). Upwards of 75% of children with it have a learning disability. Hormone testing. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. 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. If the condition is suspected, then someone with medical genetics knowledge can order testing. What Is Klinefelter Syndrome? Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). En Español. Because these boys can be quiet and cooperative in the classroom, teachers may not notice the need for help. Klinefelter syndrome is classed as a disability when a child has learning disabilities. 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. Learn more about the causes, symptoms, and treatment of Klinefelter syndrome. However there are treatments available for the problems associated with the condition. The only way to verify Klinefelter syndrome is with testing. The list of treatments mentioned in various sources for Klinefelter syndrome includes the following list. In many cases, men with Klinefelter syndrome can’t father a child naturally on their own. Klinefelter syndrome is a fairly common genetic condition found in males only.. Most males have one Y and one X chromosome. Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. 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. Le syndrome de Klinefelter ou 47,XXY est une aneuploïdie qui se caractérise chez l'homme par un chromosome sexuel X supplémentaire. For this reason, it is important to talk to your doctor about any medical symptoms or genetic tests you are considering. Treatment One of the hallmarks of Klinefelter syndrome is hypergonadotropic hypogonadism, a condition that results in testosterone deficiency. Surgery - for enlarged male breasts. 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). Males with Klinefelter syndrome should be seen by a team of health care providers. Having extra X chromosomes can cause a male to have a variety of physical traits. Surgery - for enlarged male breasts. One of these is through testosterone treatment. The most common form of Klinefelter syndrome is the single extra X chromosome, XXY chromosomes in most cells in the body. People with the condition are sometimes referred to as X chromatin positive males. They are able to lead normal lives that are fulfilling and well adjusted with few symptoms. 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. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. If a child’s speech is impacted by Klinefelter syndrome therapy may be needed. It's important to remember that because symptoms can be mild, many males with KS are never diagnosed ore treated. An estimated 53-55% of conceptions affected with Klinefelter syndrome are expected to survive to term.4. 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. The primary feature is sterility. The first medical description of Klinefelter syndrome was in 1942. General practitioners. Overview of Klinefelter Syndrome, 47,XXY. Approximately 5% of Klinefelter syndrome cases detected at amniocentesis r… For these males, supplemental testosterone may not be suitable. Stevens-Johnson Syndrome Genetic Disorder, Duchenne Muscular Dystrophy: Genetic Disorder. Treating Physical Symptoms This syndrome is non-curable; however there are available treatments to cure the symptoms brought by Klinefelter's syndrome. Between 95% and 99% of XXY men are infertile because they do not produce enough sperm to fertilize an egg naturally. A boy can also be born with and extra X chromosome in some of their cells while the others have the normal XY chromosome. How many rare diseases are there? Treatment One of the hallmarks of Klinefelter syndrome is hypergonadotropic hypogonadism, a condition that results in testosterone deficiency. Infertility specialists. Where Can I Find Clinical Care Recommendations and Practice Guidelines? Let us start by saying, Klinefelter is no one's fault. There is a study that claims that timely and planned support allotted to young men with this condition can restore present poor psychosocial effects. L'individu présente alors deux chromosomes X et un chromosome Y, soit 47 chromosomes au lieu de 46. Men with Klinefelter’s Syndrome also have treatments for enlarged breasts and infertility. We want you to have one resource to turn to for facts presented in such a way that they are easy to understand. In Klinefelter’s syndrome, there are 47 chromosomes present rather than 46 chromosomes found in genetically normal humans. Come follow the journey. Talking with others who have the condition or a child with the condition can provide a sense of relief and understanding. Speech therapists . Assisted reproductive technology (ART) procedures can help some men with Klinefelter syndrome overcome infertility issues. Get the latest research information from NIH: https://www.nih.gov/coronavirus The genetic disorder is neither dominant nor recessive because Klinefelter syndrome is not inherited 1. 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. Treatment can help boys and men with Klinefelter live happy, healthy lives. Chromosome analysis. This type of therapy may be needed to build social skills and manage emotions. In some cases, the physical symptoms are so mild the condition isn’t diagnosed until puberty or early adulthood. Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. Men who have Klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's syndrome. What is a Haplotype? Cases where three or more X chromosomes are present are much less common, affecting just 1 in 50,000 newborn males. 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. Even if there were, because most cases aren’t diagnosed until later in life, preventative measures may not help. Typically, they are only recommended when there is a high risk for another serious chromosomal problem. Breast Tissue Removal. The syndrome can affect boys and men at different stages of life and their physical, language, and social development. The only time it occurs is when one of two tests are done, usually for another reason. We take the information we share seriously. For others, it can be difficult to cope with the side effects, especially during adolescence. 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". Review our Editorial Policy Here. The exact exercises used will vary. 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. And for goodness sake, don't smoke. Genetic counselors play a vital role in the process of understanding your test results. Variants of … The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. Because it is a surgical procedure, mastectomy carries a variety of risks. Klinefelter syndrome is actually the most common chromosomal abnormality among males. In this issue of the Journal, Zganjar et al. Testosterone therapy can help with many of the symptoms of Klinefelter syndrome. What treatments are available? For information on how to find an endocrinologist, see the Resources and Publications section. Seeing a psychologist or psychiatrist can help alleviate emotional and mental problems associated with having Klinefelter syndrome. A recent Danish study indicated that Klinfelter syndrome was present in 153 per 100,000 babies tested.3. 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 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. While there is no cure for sex chromosome changes caused by Klinefelter syndrome, treatments can help minimize effects, especially when … ; About one of every 500 males has an extra X chromosome, but many don't have any symptoms. 2. 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. 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 It’s also commonly referred to as XXY syndrome or 47, XXY. Treating Social and Behavioral Symptoms. In this case, if the Klinefelter patient wishes to reduce the social anxiety of having enlarged breasts, the only current treatment is surgery. 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. Most individuals with this condition will lead healthy and meaningful lives. The information on this website is not to be used as a substitute for medical advice, diagnosis, and/or treatment. They might also have questions about their masculinity or gender identity.9 In these instances, consulting a psychologist, counselor, or psychiatrist may be helpful. 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. What is Klinefelter syndrome? Breast reduction surgery can be used to remove excess breast tissue. There is a large community of families with this condition who can provide guidance and support. Genetics is a quickly changing topic. Men who have enlarged breasts are at an increased risk of getting breast cancer. Following the 1st International Workshop on the Klinefelter Syndrome in 2010 (Juul et al., 2011), the 2nd IWKS took place in M€unster, Germany from March 10 to 12, 2016 and was organized by the Centre of Reproductive Medicine and Andrology of the University of M€unster. 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. Often, symptoms are subtle and subjects do not realize they are affected. Approximately 5% of Klinefelter syndrome cases detected at amniocentesis r… Treatment Options for Klinefelter Syndrome . In addition, testosterone supplementation will not increase testicular size, decrease breast growth, or correct infertility. This booklet offers information for expectant parents first learning about Klinefelter syndrome or 47,XXY, which is a chromosome condition. 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. HRT Doctors Group has extensive experience with Klinefelter Syndrome Treatment using Testosterone Replacement Therapy. Most commonly, the physician will take a blood sample and send it off for chromosome analysis. 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 … Symptoms are often subtle, and many people do not realize they are affected. Men with some sperms in their semen, the intracytoplasmic sperm injection (ICSI) can be used to impregnate their partners. Occupational or behavioral therapists might be able to assist with these skills. Klinefelter's syndrome is a set of symptoms resulting from two or more X chromosomes in males. Boys and men with Klinefelter syndrome have a 2-40 fold increased risk of getting a bone fracture. 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. Fractures are another regular occurrence due to weakened bones (osteoporosis). But various interventions, such as speech therapy and educational assistance, can help to reduce and even eliminate these difficulties. It’s estimated that 10-39% of men with Klinefelter have type 2 diabetes. 1. 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. We’re busy at work revamping the YourDNA app for Apple and Android. For this reason, it is important to talk to your doctor about any medical symptoms or genetic tests you are considering. Read our guide here. Klinefelter syndrome treatment with homeopathy is also prominent for treating secondary symptoms. Living with XXY became a NonProfit 501(c)(3) Charitable organization on November 6th, 2019. What are the treatments for symptoms in Klinefelter syndrome (KS)? Come follow the journey. Klinefelter syndrome is a genetic condition that affects males. Treatment involves the targeted administration of male hormones (androgens), such as testosterone enanthate, cypionate, or androgel. Testosterone replacement therapy (TRT) TRT involves testosterone administered as gels, skin patches or injections. Klinefelter syndrome: Is the Diagnosis Correct? This could mean their sex chromosomes could be XXY, XXXY, XXXXY, or something along those lines. While life expectancy isn’t believed to be heavily impacted by Klinefelter syndrome, living with the condition can be difficult. When a child is born with Klinefelter Syndrome, they will likely look just like any newborn baby. Once the child reaches puberty other physical signs can appear often due to low levels of testosterone. Klinefelter syndrome is the presence of an extra X chromosome in a male. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Drugs used to treat Klinefelter Syndrome The following list of medications are in some way related to, or used in the treatment … 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. There's no cure for Klinefelter syndrome, but some of the problems associated with the condition can be treated if necessary. There are even fertility treatments available for men with Klinefelter syndrome as most men with this condition have no or very little sperm. We have a new Website. Klinefelter syndrome is the presence of an extra X chromosome in a male. Instead it is a chromosome abnormality that occurs randomly at the time of conception. Some research suggests that Klinefelter syndrome is becoming more common and may be more prevalent in some populations. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Klinefelter Syndrome- one extra copy of an X chromosome (47,XXY) Other disorders of XY chromosomes (including 48,XXXY, 49,XXXXY, etc.) Like all ART, TESE-ICSI carries both risks and benefits. Prognosis for Klinefelter Syndrome. Diagnosing Klinefelter syndrome based on symptoms alone can be difficult, and there is no standard guideline for clinical diagnosis. 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 … Chromosomes are packages of genes found in every cell in the body. There is not anything someone did or did not do to cause this. Additionally, individuals are at an increased risk for breast cancer, lung disease, and varicose veins. Receiving a diagnosis of Klinefelter Syndrome might be surprising. Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. No matter your genetic makeup, maintain ideal blood pressure and glucose levels, avoid harmful alcohol intake, exercise regularly, get regular sleep. Il s'agit d'un des cas d'intersexuation1. 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. Males with the condition may want to join a Klinefelter syndrome support group. Because these tests come with a small risk of miscarriage, their use is very conservative. This article was scientifically reviewed by Brenna Bentley. The list of treatments mentioned in various sources for Klinefelter syndrome includes the following list. 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