Patients who are using testosterone replacement therapy should work one-on-one with an endocrinologist. Treatment involves the targeted administration of male hormones (androgens), such as testosterone enanthate, cypionate, or androgel. Instead it is a chromosome abnormality that occurs randomly at the time of conception. However, more recent research estimates that life expectancy is shortened by only 2 years 4. When a child is born with Klinefelter Syndrome, they will likely look just like any newborn baby. Some, but not all, children with KS have language development and learning delays. Approximately 5% of Klinefelter syndrome cases detected at amniocentesis r… Drugs used to treat Klinefelter Syndrome The following list of medications are in some way related to, or used in the treatment … There's no cure for Klinefelter syndrome, but some of the problems associated with the condition can be treated if necessary. While there is no cure for sex chromosome changes caused by Klinefelter syndrome, treatments can help minimize effects, especially when … Diagnosing Klinefelter syndrome in utero or at birth is rare. The only study which shows clear association between gynecomastia and male breast cancer is with Klinefelter syndrome; patients who have gynecomastia and Klinefelter syndrome are at about 50% increased risk of male breast cancer. 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). Learn more about the causes, symptoms, and treatment of Klinefelter syndrome. For information on how to find an endocrinologist, see the Resources and Publications section. Endodontic treatment in three taurodontic teeth associated with 48,XXXY Klinefelter syndrome: A review and case report. Read more about our partner Cure Rare Disease and the fight against Duchenne’s. Read our guide here. 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. It results from an unequal sharing of sex chromosomes soon after fertilization. It occurs when a male baby is born with more than required or extra X chromosomes. In Klinefelter’s syndrome, there are 47 chromosomes present rather than 46 chromosomes found in genetically normal humans. Klinefelter syndrome is a fairly common genetic condition found in males only.. What are the treatments for symptoms in Klinefelter syndrome (KS)? Men with this syndrome tend to have enlarged breast tissues. Due poor or no sperm count, the majority of the men with Klinefelter syndrome are found to be infertile. Get the latest research information from NIH: https://www.nih.gov/coronavirus An estimated 53-55% of conceptions affected with Klinefelter syndrome are expected to survive to term.4. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Testosterone therapy can help with many of the symptoms of Klinefelter syndrome. 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. Treatment may include: Testosterone replacement: About half of people with … Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. If you are a parent of a child recently diagnosed you might be wondering what the future holds. But various interventions, such as speech therapy and educational assistance, can help to reduce and even eliminate these difficulties. Most males have one Y and one X chromosome. Men with Klinefelter’s Syndrome also have treatments for enlarged breasts and infertility. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontolog y , 105 (5), 670-677. Talking with others who have the condition or a child with the condition can provide a sense of relief and understanding. For most individuals with Klinefelter Syndrome, the signs and symptoms tend to be mild, often going undiagnosed until puberty or adulthood. The odds may be improved by freezing sperm in adolescence when the sperm is healthier. 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. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. An estimated 53-55% of conceptions affected with Klinefelter syndrome are expected to survive to term.4. However, treatment can bring benefits at any age. 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. Approximately 50% of men with Klinefelter syndrome produce sperm but not in quantities large enough to fertilize an egg naturally. They might be slow to learn to talk, read, and write, and they might have difficulty processing what they hear. Early detection and treatment improves your or your child’s ability to lead a productive life. 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. Fertility Treatment. It affects between 1 in 500 and 1 in 1,000 newborn males. 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 1. Fractures are another regular occurrence due to weakened bones (osteoporosis). It’s a question that many men ask after being diagnosed. Klinefelter syndrome treatment. Men who have Klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's syndrome. Because these tests come with a small risk of miscarriage, their use is very conservative. Many DNA tests are available as at-home tests. One of the most interesting facts about Klinefelter syndrome is that the condition can also occur in wild and domesticated animals. But this type of treatment is not suitable because surgery causes greater pain and also costs higher. Breast Tissue Removal. The primary features are infertility and small poorly functioning testicles. Klinefelter syndrome may affect up to 1 in 500 male births in the world today.2. Where Can I Find Clinical Care Recommendations and Practice Guidelines? This could mean their sex chromosomes could be XXY, XXXY, XXXXY, or something along those lines. 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. What is Klinefelter syndrome? Having extra X chromosomes can cause a male to have a variety of physical traits. 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). One of these is through testosterone treatment. Learn more about Klinefelter syndrome, including how it affects men's hormone health and what treatment options are available. Men with some sperms in their semen, the intracytoplasmic sperm injection (ICSI) can be used to impregnate their partners. Living with Klinefelter syndrome is much easier when intervention starts early. With regard to education, some boys with KS will qualify to receive state-sponsored special needs services to address their developmental and learning symptoms. Speech therapy should be started as soon as possible to maximize its effectiveness. It’s estimated that 10-39% of men with Klinefelter have type 2 diabetes. Upwards of 75% of children with it have a learning disability. Klinefelter syndrome is the presence of an extra X chromosome in a male. Most individuals with this condition will lead healthy and meaningful lives. In addition to genetic testing, hormone tests can also be used to measure various hormone levels, including testosterone. Symptoms are often subtle, and many people do not realize they are affected. In this issue of the Journal, Zganjar et al. What Is Klinefelter Syndrome? 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: Is the Diagnosis Correct? Klinefelter Syndrome Treatment. There is a large community of families with this condition who can provide guidance and support. In some cases, the physical symptoms are so mild the condition isn’t diagnosed until puberty or early adulthood. 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