However, new studies have found that with the help of assisted reproductive therapy, some individuals with Klinefelter Syndrome can father children. We want you to have one resource to turn to for facts presented in such a way that they are easy to understand. Klinefelter syndrome is actually the most common chromosomal abnormality among males. Treatment List for Klinefelter syndrome. Like all ART, TESE-ICSI carries both risks and benefits. This is one of the most common Klinefelter syndrome treatments since many of the symptoms stem from low testosterone. Treatment can help males overcome many of the physical, social, and learning problems that are part of the syndrome. There is not anything someone did or did not do to cause this. Genetics is a quickly changing topic. Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. With regard to education, some boys with KS will qualify to receive state-sponsored special needs services to address their developmental and learning symptoms. Treating Language and Learning Symptoms 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. This can be managed by assisted reproductive procedure and may make possible to … They include: As boys get older they may also find that they have a low or decreased sex drive. It is important to know that your genes are not your destiny. Males with Klinefelter syndrome should be seen by a team of health care providers. The laboratory will generate a karyotype (picture of chromosomes) and look for the aneuploidy (too many or too few chromosomes). 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. Klinefelter syndrome treatment. Chromosomes carry all of our genes, and genes give instructions for our bodies to grow and function. We have a new Website. Chromosomes are tiny, but very important, structures in every cell. There is no drug that can currently reduce the size of breast tissue. Since that time, doctors and researchers have come to learn it’s the most common chromosomal abnormality affecting newborn males. But this type of treatment is not suitable because surgery causes greater pain and also costs higher. Once the child reaches puberty other physical signs can appear often due to low levels of testosterone. Learn more about the causes, symptoms, and treatment of Klinefelter syndrome. This could mean their sex chromosomes could be XXY, XXXY, XXXXY, or something along those lines. Individuals with this condition are also at an increased risk to develop autoimmune disorders such as rheumatoid arthritis, systemic lupus, and Sjogren Syndrome. Read our guide here. The primary features are infertility and small poorly functioning testicles. As with any invasive surgery, there are risks involved with gynecomastia that should be discussed with a qualified surgeon. There’s also an increased frequency of other diseases and medical conditions associated with Klinefelter syndrome. Variants of … While life expectancy isn’t believed to be heavily impacted by Klinefelter syndrome, living with the condition can be difficult. For others, it can be difficult to cope with the side effects, especially during adolescence. However there are treatments available for the problems associated with the condition. Review our Editorial Policy Here. In Klinefelter’s syndrome, there are 47 chromosomes present rather than 46 chromosomes found in genetically normal humans. It’s one of the most common types of cosmetic surgery for men. 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. For instance, boys with KS may need help with social skills and interacting in groups. These tests are not typically medically verified and should not be used to make medical decisions. HRT Doctors Group has extensive experience with Klinefelter Syndrome Treatment using Testosterone Replacement Therapy. 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. What treatments are available? Men with Klinefelter’s Syndrome also have treatments for enlarged breasts and infertility. The most common form of Klinefelter syndrome is the single extra X chromosome, XXY chromosomes in most cells in the body. Klinefelter syndrome and related XY variant syndromes are not uncommon. Puberty is a time of rapid physical and psychological change, and treatment can successfully limit symptoms. The mastectomy lowers the risk of cancer and can reduce the social stress associated with XXY males having enlarged breasts. We’re busy at work revamping the YourDNA app for Apple and Android. Some, but not all, children with KS have language development and learning delays. No approved drug treatment exists for this condition of over-developed breast tissue, termed gynecomastia. XXY males who are thinking about mastectomy should discuss all the risks and benefits with their health care provider. Treatments for Klinefelter syndrome. 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." One of the most interesting facts about Klinefelter syndrome is that the condition can also occur in wild and domesticated animals. The only way to verify Klinefelter syndrome is with testing. However, treatment can bring benefits at any age. This article was scientifically reviewed by Brenna Bentley. Sometimes the child might have a small penis, small testicles (hypogonadism), undescended testicles, or a small opening on the underside of the penis. Only 50% of males with Klinefelter syndrome have low testosterone so levels should be checked before starting treatments. The primary feature is sterility. Learn more about Klinefelter syndrome, including how it affects men's hormone health and what treatment options are available. Diagnosing Klinefelter syndrome in utero or at birth is rare. 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. The genetic disorder is neither dominant nor recessive because Klinefelter syndrome is not inherited 1. Is Klinefelter syndrome dominant or recessive? Always seek professional medical advice about any treatment or change in treatment plans. There are genetic tests that can diagnose Klinefelter syndrome. One of these is through testosterone treatment. Klinefelter syndrome is one of the most common chromosome conditions in newborns. There are treatment options to help men overcome the obstacles of low sperm count, but they are not always successful. During the test, cells are taken from the chorionic villi in the placenta. Chromosome analysis. There are also Klinefelter support groups for parents as well. Overview of Klinefelter Syndrome, 47,XXY. Although the majority of boys with KS grow up to live as males, some develop atypical gender identities. Stevens-Johnson Syndrome Genetic Disorder, Duchenne Muscular Dystrophy: Genetic Disorder. 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). Treating Physical Symptoms Testosterone therapy can help with many of the symptoms of Klinefelter syndrome. Early detection and treatment improves your or your child’s ability to lead a productive life. Klinefelter syndrome treatment costs can run into the thousands if surgery or repeated treatments are needed. Due poor or no sperm count, the majority of the men with Klinefelter syndrome are found to be infertile. 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. For information on how to find an endocrinologist, see the Resources and Publications section. What are the treatments for symptoms in Klinefelter syndrome (KS)? 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). 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. This booklet offers information for expectant parents first learning about Klinefelter syndrome or 47,XXY, which is a chromosome condition. Where Can I Find Clinical Care Recommendations and Practice Guidelines? It is a genetic condition in which males are born with one or more extra X chromosomes. They might be slow to learn to talk, read, and write, and they might have difficulty processing what they hear. Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. General practitioners. Klinefelter syndrome: Is the Diagnosis Correct? Individuals with this condition should see endocrinology to discuss testosterone therapy. For this reason, it is important to talk to your doctor about any medical symptoms or genetic tests you are considering. Speech therapists . Most commonly, the physician will take a blood sample and send it off for chromosome analysis. Men with this syndrome tend to have enlarged breast tissues. For this reason, it is important to talk to your doctor about any medical symptoms or genetic tests you are considering. 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. Testosterone replacement therapy (TRT) TRT involves testosterone administered as gels, skin patches or injections. What is Klinefelter syndrome? An estimated 53-55% of conceptions affected with Klinefelter syndrome are expected to survive to term.4. Often, symptoms are subtle and subjects do not realize they are affected. The list of treatments mentioned in various sources for Klinefelter syndrome includes the following list. Because it is a surgical procedure, mastectomy carries a variety of risks. Typically, they are only recommended when there is a high risk for another serious chromosomal problem. In some cases, the physical symptoms are so mild the condition isn’t diagnosed until puberty or early adulthood. The odds may be improved by freezing sperm in adolescence when the sperm is healthier. Sa formule chromosomique s'écrit « 2N=47, XXY », et non plus « 2N=46 ». Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. Connect with our licensed genetic counselors now. It’s also commonly referred to as XXY syndrome or 47, XXY. Additionally, individuals with Klinefelter Syndrome may struggle with mental health. US Department of Health and Human Services, Division of Intramural Population Health Research (DIPHR), Women in Science Profiles: Text Alternative, Bioinformatics and Scientific Programming Core, Philip Adams Lab: Group on Gene Regulation in Bacterial Pathogens, National Center for Medical Rehabilitation Research (NCMRR), Best Pharmaceuticals for Children Act (BPCA), Fragile X-Associated Primary Ovarian Insufficiency (FXPOI), Fragile X-Associated Tremor and Ataxia Syndrome (FXTAS), Intellectual and Developmental Disabilities (IDDs), National Child and Maternal Health Education Program, Active Funding Opportunity Announcements (FOAs) and NIH Guide Notices (NOTs) for NICHD, Parent Announcements (For Unsolicited or Investigator-Initiated Applications), Support for Training at Universities and Other Institutions, Training in the Division of Intramural Research (DIR), Training in the Division of Intramural Population Health Research (DIPHR). All individuals with Klinefelter Syndrome will have a Y chromosome which means they will all be males. Klinefelter syndrome treatment. Compared to many other chromosomal disorders, the prognosis of Klinefelter syndrome is generally good. Additionally, up to 1 in 4 children with Klinefelter syndrome are diagnosed with a psychiatric disturbance. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. 2. Breast Tissue Removal. Fertility Treatment. If you are an adult receiving this diagnosis you might wonder how you did not know. You can find Klinefelter syndrome support groups through your primary care physician. Klinefelter syndrome treatment with homeopathy is also prominent for treating secondary symptoms. Additionally, individuals are at an increased risk for breast cancer, lung disease, and varicose veins. Get the latest research information from NIH: https://www.nih.gov/coronavirus Genetic counselors play a vital role in the process of understanding your test results. Upwards of 75% of children with it have a learning disability. 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. However, these symptoms do not occur in everyone with this condition. The earlier in life that KS symptoms are recognized and treated, the more likely it is that the symptoms can be reduced or eliminated. No matter your genetic makeup, maintain ideal blood pressure and glucose levels, avoid harmful alcohol intake, exercise regularly, get regular sleep. For males whose testosterone level is low to normal, the benefits of taking testosterone are less clear than for when testosterone is very low. Most individuals with this condition will lead healthy and meaningful lives. This type of Klinefelter syndrome is called mosaic Klinefelter syndrome. Men with this syndrome tend to have enlarged breast tissues. 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. 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. 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. About one-half of XXY males' chromosomes have low testosterone levels.4 These levels can be raised by taking supplemental testosterone. Treatment involves the targeted administration of male hormones (androgens), such as testosterone enanthate, cypionate, or androgel. There is a study that claims that timely and planned support allotted to young men with this condition can restore present poor psychosocial effects. 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. Patients who are using testosterone replacement therapy should work one-on-one with an endocrinologist. Gender identity should be discussed with health care specialists before starting treatment.5. Chorionic Villus Sampling (CVS) - This test is done during pregnancy to identify possible chromosomal abnormalities. The therapy will help with the development of hair growth, a deeper voice, increased muscle tone, bone strength and penis growth. Not all males with XXY condition benefit from testosterone therapy. Prognosis for Klinefelter Syndrome. 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. En Español. They might also have questions about their masculinity or gender identity.9 In these instances, consulting a psychologist, counselor, or psychiatrist may be helpful. Is testosterone therapy right for every XXY male? A list of references is also included at the bottom of this article. An estimated 53-55% of conceptions affected with Klinefelter syndrome are expected to survive to term.4. It's important to remember that because symptoms can be mild, many males with KS are never diagnosed ore treated. 1. Klinefelter syndrome is the presence of an extra X chromosome in a male. It is estimated that one in every 500 males are born with one or more extra X chromosomes. What are the treatments for symptoms in Klinefelter syndrome (KS)? 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.. 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. As men, most guys with Klinefelter syndrome can have sex, usually with the help of testosterone treatment. 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. Having extra X chromosomes can cause a male to have a variety of physical traits. 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. Infertility specialists. Physical therapy is used to build strength and motor skills. It affects between 1 in 500 and 1 in 1,000 newborn males. 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. Some health care providers recommend surgery—called mastectomy (pronounced ma-STEK-tuh-mee)—to remove or reduce the breasts of XXY males. METHODS: A Markov model was developed to assess cost-effectiveness of testosterone undecanoate (TU) depot injection treatment compared with no treatment. There's no cure for Klinefelter syndrome, but some of the problems associated with the condition can be treated if necessary. If treatment is needed, it’s recommended that they begin as early as possible, preferably during puberty or childhood. Many DNA tests are available as at-home tests. Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. What Is Klinefelter Syndrome? Treatment may include: Testosterone replacement: About half of people with … 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 can now have children, if they want, with new forms of in-vitro fertilisation. Contrary to research results released decades ago, current research shows that XXY males are no more likely than other males to have serious psychiatric disorders or to get into trouble with the law.10. It’s best to begin testosterone replacement therapy at the time of puberty so that boys develop as normally as possible. Fractures are another regular occurrence due to weakened bones (osteoporosis). What is the treatment for Klinefelter syndrome? Analysis of 25 years of studies involving 466 men with Klinefelter syndrome found that patients had a 50% higher mortality rate 3 and their life expectancy was 5 years shorter than average. If the condition is suspected, then someone with medical genetics knowledge can order testing. More research on this is needed before a consensus can be established. Approximately 5% of Klinefelter syndrome cases detected at amniocentesis r… If you are a parent of a child recently diagnosed you might be wondering what the future holds. It’s commonly used to treat depression and anxiety. Men with some sperms in their semen, the intracytoplasmic sperm injection (ICSI) can be used to impregnate their partners. 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. Assisted reproductive technology (ART) procedures can help some men with Klinefelter syndrome overcome infertility issues. Klinefelter syndrome is classed as a disability when a child has learning disabilities. The primary features are infertility and small poorly functioning testicles. Endodontic treatment in three taurodontic teeth associated with 48,XXXY Klinefelter syndrome: A review and case report. Klinefelter syndrome is one of the most common chromosomal disorders, affecting 1/500 to 1/1,000 newborn males. About Klinefelter Syndrome Klinefelter Syndrome (KS) is a condition that occurs in men who have one or more extra X chromosomes. Advances in assistive reproductive technology (ART) have made it possible for some men with KS to conceive. One of these is through testosterone treatment. Klinefelter Syndrome Treatment. There are even fertility treatments available for men with Klinefelter syndrome as most men with this condition have no or very little sperm. 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. Because these boys can be quiet and cooperative in the classroom, teachers may not notice the need for help. It’s estimated that 10-39% of men with Klinefelter have type 2 diabetes. In addition, testosterone supplementation will not increase testicular size, decrease breast growth, or correct infertility. Klinefelter syndrome is a fairly common genetic condition found in males only.. 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 … L'individu est alors de caractère masculin, mais infertile. … Klinefelter syndrome is the presence of an extra X chromosome in a male. 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. Because these tests come with a small risk of miscarriage, their use is very conservative. Treating Social and Behavioral Symptoms. Due poor or no sperm count, the majority of the men with Klinefelter syndrome are found to be infertile. Come follow the journey. 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