Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. 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 *Details: Includes unlimited access to … Due poor or no sperm count, the majority of the men with Klinefelter syndrome are found to be infertile. Males with the condition may want to join a Klinefelter syndrome support group. Speech therapy should be started as soon as possible to maximize its effectiveness. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Genetic counselors play a vital role in the process of understanding your test results. We take the information we share seriously. The list of treatments mentioned in various sources for Klinefelter syndrome includes the following list. This can be managed by assisted reproductive procedure and may make possible to … Approximately 5% of Klinefelter syndrome cases detected at amniocentesis r… Seeing a psychologist or psychiatrist can help alleviate emotional and mental problems associated with having Klinefelter syndrome. During the test, cells are taken from the chorionic villi in the placenta. Instead it is a chromosome abnormality that occurs randomly at the time of conception. We have a new Website. Individuals with this condition should see endocrinology to discuss testosterone therapy. Early intervention can prevent some symptoms from occurring. Treatment involves the targeted administration of male hormones (androgens), such as testosterone enanthate, cypionate, or androgel. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. However, more recent research estimates that life expectancy is shortened by only 2 years 4. 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. For this reason, it is important to talk to your doctor about any medical symptoms or genetic tests you are considering. In this case, if the Klinefelter patient wishes to reduce the social anxiety of having enlarged breasts, the only current treatment is surgery. While there is no cure for sex chromosome changes caused by Klinefelter syndrome, treatments can help minimize effects, especially when … Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. 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. Diagnosing Klinefelter syndrome in utero or at birth is rare. What is the treatment for Klinefelter syndrome? 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. For this reason, it is important to talk to your doctor about any medical symptoms or genetic tests you are considering. Many DNA tests are available as at-home tests. Klinefelter syndrome may affect up to 1 in 500 male births in the world today.2. Klinefelter syndrome treatment costs can run into the thousands if surgery or repeated treatments are needed. 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)? There is a study that claims that timely and planned support allotted to young men with this condition can restore present poor psychosocial effects. For this procedure, a surgeon removes sperm from the testes and places one sperm into an egg. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontolog y , 105 (5), 670-677. The most common form of Klinefelter syndrome is the single extra X chromosome, XXY chromosomes in most cells in the body. Chromosomes are tiny, but very important, structures in every cell. Surgery - for enlarged male breasts. Living with XXY became a NonProfit 501(c)(3) Charitable organization on November 6th, 2019. You can find Klinefelter syndrome support groups through your primary care physician. 1. Approximately 5% of Klinefelter syndrome cases detected at amniocentesis r… Connect with our licensed genetic counselors now. Testosterone therapy can help with many of the symptoms of Klinefelter syndrome. They are able to lead normal lives that are fulfilling and well adjusted with few symptoms. Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. KS was first described in 1942 as an endocrine disorder.5. Most individuals with this condition live their whole lives without receiving a diagnosis. The earlier in life that KS symptoms are recognized and treated, the more likely it is that the symptoms can be reduced or eliminated. 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. Occupational therapy helps with functioning in social settings, work environments and school. What treatments are available? Most males have one Y and one X chromosome. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. Treatment can help boys and men with Klinefelter live happy, healthy lives. 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. Since that time, doctors and researchers have come to learn it’s the most common chromosomal abnormality affecting newborn males. Compared to many other chromosomal disorders, the prognosis of Klinefelter syndrome is generally good. The information on this website is not to be used as a substitute for medical advice, diagnosis, and/or treatment. In addition to genetic testing, hormone tests can also be used to measure various hormone levels, including testosterone. 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 Diagnosing Klinefelter syndrome based on symptoms alone can be difficult, and there is no standard guideline for clinical diagnosis. The therapy will help with the development of hair growth, a deeper voice, increased muscle tone, bone strength and penis growth. A recent Danish study indicated that Klinfelter syndrome was present in 153 per 100,000 babies tested.3. 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 For instance, it is possible that the resulting child might have the XXY condition. This could mean their sex chromosomes could be XXY, XXXY, XXXXY, or something along those lines. All individuals with Klinefelter Syndrome will have a Y chromosome which means they will all be males. Most individuals with this condition will lead healthy and meaningful lives. 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. Men with Klinefelter syndrome can now have children, if they want, with new forms of in-vitro fertilisation. Boys and men with KS can benefit by visiting therapists who are experts in areas such as coordination, social skills, and coping. 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But this type of treatment is not suitable because surgery causes greater pain and also costs higher. However, these symptoms do not occur in everyone with this condition. Approximately 50% of men with Klinefelter syndrome produce sperm but not in quantities large enough to fertilize an egg naturally. People with the condition are sometimes referred to as X chromatin positive males. Additionally, individuals are at an increased risk for breast cancer, lung disease, and varicose veins. Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. Not all males with XXY condition benefit from testosterone therapy. This is one of the most common Klinefelter syndrome treatments since many of the symptoms stem from low testosterone. It’s a question that many men ask after being diagnosed. Gender identity should be discussed with health care specialists before starting treatment.5. Is Klinefelter syndrome dominant or recessive? Receiving a diagnosis of Klinefelter Syndrome might be surprising. Males with Klinefelter syndrome should be seen by a team of health care providers. 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. As with any invasive surgery, there are risks involved with gynecomastia that should be discussed with a qualified surgeon. Occupational or behavioral therapists might be able to assist with these skills. Causes of death in X chromatin positive males (Klinefelter's syndrome). Treatment can help males overcome many of the physical, social, and learning problems that are part of the syndrome. There are treatment options to help men overcome the obstacles of low sperm count, but they are not always successful. What is a Haplotype? Klinefelter syndrome treatment. 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. KS was first described in 1942 as an endocrine disorder.5. The type of treatment needed depends on the type of symptoms being treated. Although the majority of boys with KS grow up to live as males, some develop atypical gender identities. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Chorionic Villus Sampling (CVS) - This test is done during pregnancy to identify possible chromosomal abnormalities. Fertility Treatment. However, treatment can bring benefits at any age. Klinefelter syndrome is considered to be a rare disease. Men with some sperms in their semen, the intracytoplasmic sperm injection (ICSI) can be used to impregnate their partners. There is no cure for KS (Klinfelter Syndrome). This syndrome affects the testicular growth, results in smaller testicles and may cause reduced muscle mass, reduced facial and body hair. How many rare diseases are there? Learn more about the causes, symptoms, and treatment of Klinefelter syndrome. But various interventions, such as speech therapy and educational assistance, can help to reduce and even eliminate these difficulties. Because these tests come with a small risk of miscarriage, their use is very conservative. It results from an unequal sharing of sex chromosomes soon after fertilization. Klinefelter syndrome may affect up to 1 in 500 male births in the world today.2. Chromosomes carry all of our genes, and genes give instructions for our bodies to grow and function. Klinefelter Syndrome Treatment. 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. Always seek professional medical advice about any treatment or change in treatment plans. If the condition is suspected, then someone with medical genetics knowledge can order testing. No approved drug treatment exists for this condition of over-developed breast tissue, termed gynecomastia. The genetic disorder is neither dominant nor recessive because Klinefelter syndrome is not inherited 1. 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. 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 … Chromosomes are packages of genes found in every cell in the body. For these males, supplemental testosterone may not be suitable. This type of therapy may be needed to build social skills and manage emotions. Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. 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. L'individu présente alors deux chromosomes X et un chromosome Y, soit 47 chromosomes au lieu de 46. Once the child reaches puberty other physical signs can appear often due to low levels of testosterone. There is a large community of families with this condition who can provide guidance and support. Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. These tests are not typically medically verified and should not be used to make medical decisions. 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. Parents might need to bring these types of problems to the teacher's attention. Klinefelter syndrome: Is the Diagnosis Correct? However, numerous clinical studies have failed to show the relationship between breast cancer and gynecomastia. XXY males who are thinking about mastectomy should discuss all the risks and benefits with their health care provider. Let us start by saying, Klinefelter is no one's fault. 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 … Men with Klinefelter’s Syndrome also have treatments for enlarged breasts and infertility. It is important to know that your genes are not your destiny. Sometimes the child might have a small penis, small testicles (hypogonadism), undescended testicles, or a small opening on the underside of the penis. Men with some sperms in their semen, the intracytoplasmic sperm injection (ICSI) can be used to impregnate their partners. Early detection and treatment improves your or your child’s ability to lead a productive life. Additionally, up to 1 in 4 children with Klinefelter syndrome are diagnosed with a psychiatric disturbance. Overview of Klinefelter Syndrome, 47,XXY. The odds may be improved by freezing sperm in adolescence when the sperm is healthier. 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. What are the treatments for symptoms in Klinefelter syndrome (KS)? Klinefelter syndrome and related XY variant syndromes are not uncommon. There are genetic tests that can diagnose Klinefelter syndrome. However, new studies have found that with the help of assisted reproductive therapy, some individuals with Klinefelter Syndrome can father children. RESULTS: TU depot injection compared to no-treatment yielded a gain of 1.67 QALYs at an incremental cost of 28,176 EUR (37,192 USD) in the Klinefelter population. Klinefelter syndrome is one of the most common chromosomal disorders, affecting 1/500 to 1/1,000 newborn males. While ART procedures have improved in recent years, there’s still no guarantee they will work. 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. 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. Variants of … Men with Klinefelter syndrome can now have children, if they want, with new forms of in-vitro fertilisation. Klinefelter Syndrome Treatment. Testosterone replacement therapy (TRT) TRT involves testosterone administered as gels, skin patches or injections. Testosterone therapy can help with many of the symptoms of Klinefelter syndrome. They include: As boys get older they may also find that they have a low or decreased sex drive. 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. This treatment should begin at puberty or as soon after as possible. But, because these symptoms may be mild, many XXY males will not be eligible for these services. A boy can also be born with and extra X chromosome in some of their cells while the others have the normal XY chromosome. Hormone testing. What is Klinefelter syndrome? Luckily, the treatment options noted above can greatly improve quality of life and prevent some complications from occurring. Psychologists and/or psychiatrists. Puberty is a time of rapid physical and psychological change, and treatment can successfully limit symptoms. 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. Drugs used to treat Klinefelter Syndrome The following list of medications are in some way related to, or used in the treatment … 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. Always seek professional medical advice about any treatment or change in treatment plans. Treatment One of the hallmarks of Klinefelter syndrome is hypergonadotropic hypogonadism, a condition that results in testosterone deficiency. No matter your genetic makeup, maintain ideal blood pressure and glucose levels, avoid harmful alcohol intake, exercise regularly, get regular sleep. What Is Klinefelter Syndrome? 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. It is a genetic condition in which males are born with one or more extra X chromosomes. Even if there were, because most cases aren’t diagnosed until later in life, preventative measures may not help. 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. When a child is born with Klinefelter Syndrome, they will likely look just like any newborn baby. Klinefelter's syndrome is a set of symptoms resulting from two or more X chromosomes in males. There is a study that claims that timely and planned support allotted to young men with this condition can restore present poor psychosocial effects. 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. Living with XXY became a NonProfit 501(c)(3) Charitable organization on November 6th, 2019. Individuals with Klinefelter Syndrome will have low levels of testosterone. None of the products or services offered through the website are necessarily safe, suggested, or appropriate for you. Drugs used to treat Klinefelter Syndrome The following list of medications are in some way related to, or used in the treatment … But, sperm are found in more than 50% of men with KS.6. L'individu est alors de caractère masculin, mais infertile. 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. 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. With regard to education, some boys with KS will qualify to receive state-sponsored special needs services to address their developmental and learning symptoms. Klinefelter syndrome is the presence of an extra X chromosome in a male. It affects between 1 in 500 and 1 in 1,000 newborn males. If a child’s speech is impacted by Klinefelter syndrome therapy may be needed. 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. Il s'agit d'un des cas d'intersexuation1. Importantly, there is no guarantee the procedure will work. This treatment should begin at puberty or as soon after as possible. 2. 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." En Español. Androgen therapy (types of testosterone) is the most common form of treatment for Klinefelter syndrome and can have a number of positive effects, including improving sex drive, promoting hair growth, increasing muscle strength and energy levels, and reducing the likelihood of osteoporosis. An estimated 53-55% of conceptions affected with Klinefelter syndrome are expected to survive to term.4. There's no cure for Klinefelter syndrome, but some of the problems associated with the condition can be treated if necessary. And for goodness sake, don't smoke. 1. We have a new Website. Fertility Treatment. The exact exercises used will vary. Klinefelter syndrome is actually the most common chromosomal abnormality among males. 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). Learn more about Klinefelter syndrome, including how it affects men's hormone health and what treatment options are available. For instance, boys with KS may need help with social skills and interacting in groups. An estimated 53-55% of conceptions affected with Klinefelter syndrome are expected to survive to term.4. For others, it can be difficult to cope with the side effects, especially during adolescence. Where Can I Find Clinical Care Recommendations and Practice Guidelines? Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. While there is no cure for sex chromosome changes caused by Klinefelter syndrome, treatments can help minimize effects, especially when … Only 50% of males with Klinefelter syndrome have low testosterone so levels should be checked before starting treatments. While life expectancy isn’t believed to be heavily impacted by Klinefelter syndrome, living with the condition can be difficult. If you are an adult receiving this diagnosis you might wonder how you did not know. Often, symptoms are subtle and subjects do not realize they are affected. We’re busy at work revamping the YourDNA app for Apple and Android. 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