mosaic klinefelter syndrome life expectancy

Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Klinefelter's syndrome; XXY syndrome; 47,XXY syndrome; Klinefelter's syndrome; XXY syndrome; 47,XXY syndrome; XXY trisomy, placeholder for the horizontal scroll slider, Office of Rare Disease Research Facebook Page, Office of Rare Disease Research on Twitter, U.S. Department of Health & Human Services, Caring for Your Patient with a Rare Disease, Preguntas Más Frecuentes Sobre Enfermedades Raras, Como Encontrar un Especialista en su Enfermedad, Consejos Para una Condición no Diagnosticada, Consejos Para Obtener Ayuda Financiera Para Una Enfermedad, Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos. I think I am doing fine and have worked my way around these problems. I think that depends on family history, genetics. If You don't treat with TRT You can make cancer. Contact a GARD Information Specialist. Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. Klinefelter syndrome may affect up to 1 in 500 male births in the world today.2. Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. These resources can help families navigate various aspects of living with a rare disease. We want to hear from you. I was diagnosed when I was 15 and sent on my way. Â A research-based publication in 1985 showed that life expectancy for Klinefelter Syndrome reduces by 5 years as opposed to normal individuals, and the afflicting causes usually are aortic valve problems and tumor issues. I am 49. What Is The Outlook (Prognosis) For Klinefelter's Syndrome? You may want to review these resources with a medical professional. The syndrome was first identified and described in 1942 by Harry Fitch Klinefelter, Jr., an American physician. 48,XXYY can be considered a variant of Klinefelter syndrome.Individuals with 48,XXYY are usually considerably tall with small testes â¦ The latest research has shown that it has a small impact on life expectancy and reducing it between 3 and 5 years on average, but also depends on the care you received and the good control of the disease, reaching many people with Klinefelter syndrome to have a long life. Just turned 61 years old and will be 62 in a few more months. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter synâ¦ J Natl Cancer Inst. Educational interventions: As children, many people with Klinefelter syndrome qualify for special services to help them in school. 2005;97(16):1204-10. 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. Some men with features of KS may only carry the extra X chromosome in some of their cells, with the remaining cells being XY. However, it has been reported that affected individuals are at increased vulnerability to different systemic conditions such as autoimmune diseases, osteoporosis, lupus, epilepsy, arthritis, â¦ Teachers can also help by using certain methods in the classroom, such as breaking bigger tasks into small steps. There will be no viewing and no burial since I have chosen to be cremated. All I want to learn about now is how I can improve my health and live the maximum amount of years as I possibly can. Life span of men with Klinefelter syndrome is normal [4] [10]. A birth in non-mosaic Klinefelter's syndrome after testicular fine needle aspiration, intracytoplasmic sperm injection and preimplantation genetic diagnosis. The life expectancy and the medical complications in males with MECP2 mutations depends a lot on the underlying mutation and/or other associated genetic problems. The primary features are infertility and small poorly functioning testicles. Description Klinefelter syndrome is â¦ 1998 Jul. Klinefelter Syndrome Definition Klinefelter syndrome is a chromosomal disorder that affects only males. Used to think about suicide for the last 30 years of my life, but no more. That said, it's important to note that treatments such as testosterone replacement are being studied which may change these "statistics" in the future. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. Â. Hello my Name is Diana and I am in a relationship with someone who has Kleinfelter's. Under normal circumstances, a child inherits an X-chromosome from her mother and an X-chromosome from her father, resulting in a perfectly matched pair of X chromosomes. KS was first described in 1942 as â¦ Often, symptoms are subtle and subjects do not realize they are affected. I am diagnosed with klinefelter bit really i dont fit this diagnose since i am a woman and XXY. 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. I prefer to be alone and away from them even up to the point of death. expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals. Disease discovered is 10 years ago. 48,XXYY syndrome is a chromosomal condition, characterized by the presence of an extra X and Y chromosome in males, that causes medical and behavioral problems. Get the latest research information from NIH: https://covid19.nih.gov (link is external). However, newer studies suggest that the individuals with Klinefelter syndrome have estimated reduced life expectancy â¦ Klinefelter syndrome, also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Klinefelter syndrome affects around 1 in every 660 males. If there is a family history of heart failure or diabetic conditions then that can directly effect a persons life expectancy. I haven't experienced any of the autoimmune conditions related to KS. â¦ The XXY condition that causes Klinefelter syndrome can't be changed, but medical treatment and working with therapists can help a boy's development and help lessen the â¦ I've had my share of learning disabilities as well as bulling by regular people. There may also be behavior problems and delayed â¦ It was a devastating blow to my self esteem. I have been receiving testosterone treatment for 6 ... We discovered our beautiful Son, Nephew, Grandson and Friend had Klinefelter Syndrome on the 30th November 2015.Â An estimated 53-55% of conceptions affected with Klinefelter syndrome are expected to survive to term.4. Klinefelter syndrome (KS) is a common genetic condition affecting one in 450 ... 46,XY/47,XXY).2â3 Men with a mosaic picture typically present with a less severe ... a variety of comorbidities, resulting in life expectancy being reduced by â¦ However, more recent research estimates that life expectancy is shortened by only 2 years 4 . Diseasemaps 2021, GIRLFRIEND OF SOMEONE WITH KLEINFELTER SYNDROME. Try our interactive tool for help finding information, services, experts, financial aid, and more! Sometimes I feel like my boyfriend is going down a path in his head where I can't follow. Cancer incidence and mortality in men with Klinefelter syndrome: a cohort study. Wattendorf DJ, Muenke M. Klinefelter syndrome. Hum Reprod . Kallman syndrome, characterized by gonadotropin-releasing hormone deficiency and anosmia, has several characteristics similar to those of Klinefelter syndrome, but it is much rarer. Now as a man Iâve learned to control my anger issues to an extent and Iâve always dealt with learning to a certain degree. The average lifespan for infants born with trisomy 18 is 3 days to 2 weeks. We went to a ivf clinic called pivot. I don't know of any studies that give us a time-line on this subject. Life expectancy is usually normal, and many patients live normal lives. I never was helped out or told why I was so angry and why I couldnât learn simple math. I think its important to think about gender. Having a more normal testosterone level can help affected people develop bigger muscles, a deeper voice, and facial and body hair, and may also increase sexual desire, enlarge the. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. How can we make GARD better? Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast growth, and less iâ¦ I will make this my lifelong committment to learn andÂ educate through scientific research , Journal articles, Conferences, and person... PREMARIN(0.625mg*2)ï¼Male. This section provides resources to help you learn about medical research and ways to get involved. Delayed or incomplete puberty with lack of secondary sexual characteristics resulting in sparse facial, body, or sexual hair a high-pitched voice and body fat distribution resulting in a rounder, lower half of the body, with more fat deposited in the hips, buttocks and thigh instead of around the chest and abdomen, Abnormal body proportions (long legs, short trunk, shoulder equal to hip size), Opening (meatus) of the urethra (the tube that carries urine and sperm through the penis to the outside) on the underside of the penis (hypospadias) instead of the tip of the head of the penis, Social, psychologic and behavioral problems, Testosterone replacement: About half of people with SK have low testosterone levels, which may be raised by taking supplemental testosterone. The life expectancy of Klinefelter's syndrome is a little lower than that of a person without the disease. Research Portfolio Online Reporting Tool (RePORT), Eunice Kennedy Shriver National Institute of Child Health and Human Development, Association for X and Y Chromosome Variations (AXYS). Life expectancies for people with Down syndrome are much higher than in the past. We want to hear from you. Have a question? Living with a genetic or rare disease can impact the daily lives of patients and families. Chromosome 18p-syndrome is a deletion of the short arm (p) of chromosome 18. To many parents let the doctors treat their children with testosterone. We remove all identifying information when posting a question to protect your privacy. I would like to find a diet to help with my spare tire and breast tissue. Even tho I've had to lie on job applications in order to get work to support myself, even encountering harassment from other workers through out my life. In addition to problems mentioned above, low testosterone can give a series of symptoms: low energy levels, increased daytime sleepiness, low libido (sex drive), and difficulty concentrating, which can be treated with testosterone supplementation. The results of one study on non-. People with this condition are born with at least one extra X chromosome. Many boys with Klinefelter syndrome â also known as XXY syndrome â have no signs or symptoms, and some don't even know they have it until later in life. Do you know of an organization? Synonyms: XXY syndrome, 47, XXY males, Epidemiology of Klinefelter's Syndrome 1:1000 Causes (Etiology) and Pathology of Klinefelter's Syndrome The karyotype of Klinefelter's syndrome is 47, XXY. Other manifestations of Kallman syndrome can include I donât want to take testosterone bec. According to research, Klinefelter syndrome can shorten your life expectancy up to two years. Visit the group’s website or contact them to learn about the services they offer. Am Fam Physician. Turner Syndrome Life Expectancy There are many different chromosomal abnormalities and disorders that have been studied by doctors and scientists around the world for a number of years. Do you have updated information on this disease? Klinefelter syndrome only affects males. Hormone testing. These individuals have mosaic Klinefelter Syndrome (46,XY/47,XXY). Lots depends on getting good medical care and management. In the presence of mosaicism, the childs chromosomal makeup is significantly altered, resulting in either a deficiency or alteration that is carried throughouâ¦ Thanks to the advancements in science and technology, there are so many different great things that can be done in order to â¦ They can direct you to research, resources, and services. Similar features include hypogonadism, sparse body hair, decreased libido, and infertility. It is characterized by unusual facial features and mild to severe intellectual disability. Generally, individuals suffering from this condition live to nearly the same age as healthy people.However, early death can result from iatrogenesis (complications arising from medicinal or cultural interventions, like surgeries or extreme rituals).Without effective counseling and support from family and friends, some patients may also succumb from depression, or may commit suicide.To manage Klinâ¦ I firmly believe a lot of determining factors of ones life expectancy is related to family genetics. Studies show that 60% to 75% of children survive for 24 hours, 20% to 60% for 1 week, 22% to 44% for 1 month, 9% to 18% for 6 months, and 5% to 10% for over 1 year. Since the Japanese seldom are taking PREMARIN, it is just like human experimentation. 2005;72(11):2259- 62. Life expectancy is normal or very slightly reduced for many individuals with Klinefelter syndrome; patients who develop secondary diseases, such as cancer, may have shorter life expectancies. 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. You can help advance At these times everything I do or say is bad and I am the awf... Information on diseasemaps.org is reported by users and is not medical advice. Do you know of a review article? Chromosomes are packages of genes found in every cell in the body. The mean age at presentation was 37 years. Inclusion on this list is not an endorsement by GARD. 1. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. The fact that sperm can be found in the testes of men with Klinefelter syndrome has changed this â¦ Personally my family history shows males living into their 90's, my father is 93 yo. Â Its horrible.Â. Â How might Klinefelter syndrome affect your life? Klinefelter syndrome, also known as XXY syndrome, is a condition in boys and men thatâs caused by an extra X chromosome. Genetics Education Materials for School Success (GEMSS), National Human Genome Research Institute's. Babies with the 47, XXY form of Klinefelter differ little from healthy children. In my years of work in the Medical field I have seen 40 year olds who look 70 and 70 year olds who look 40. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. The medical community is getting away from putting labels on us asÂ men with Klinefelter Syndrome.Â Some of usÂ identify ourselves with being men, women, Trans or Intersex, We no longer want to be placed into boxes so we are getting away from labels ... Hello I live in Perth wa I was diagnosed with klinefelters, in 2008 after trying to have a baby with my girlfriend. Variants of Klinefelter syndrome (such as 48,XXXY, 49,XXXXY) are much rarer, occurring in 1 in 50,000 to 1 in 85,000 or fewer newborns. The mosaic KS patients were all pattern 47,XXY/46,XY. From 6 years ago. Several forms of therapy such as physical, speech, occupational, behavioral, mental health, and family therapy can often help reduce or eliminate some of the symptoms of Klinefelter syndrome such as poor muscle tone; speech and language problems; or low self-confidence. According to the study, there is a chance of reduction of life expectancy by 5 years due to the probability of the occurrence of aortic valve diseases, tumors, and subarachnoid haemorrhages in these affected people. The syndrome may also cause reduceâ¦ rare disease research! Klinefelter syndrome can cause problems with learning and sexual development in guys. Research helps us better understand diseases and can lead to advances in diagnosis and treatment. Any help with information would be greatly appreciated. It can affect physical and mental development. Typically 3-5 years less than other same age individuals without the condition. They can now be expected to live to more than 60 years of age. We want to hear from you. Men with Klinefelter syndrome tend to have more than the average number of chronic health conditions and a shorter life expectancy than men who do not have the syndrome. Until 1996 men with Klinefelter syndrome were considered sterile [20]. These resources provide more information about this condition or associated symptoms. Denschlag D, Tempfer C, Kunze M, Wolff G, Keck C. Assisted reproductive techniques in patients with Klinefelter syndromeâ¦ Questions sent to GARD may be posted here if the information could be helpful to others. Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. http://www.nichd.nih.gov/health/topics/klinefelter/Pages/default.aspx, http://ghr.nlm.nih.gov/condition=klinefeltersyndrome, http://www.nlm.nih.gov/medlineplus/ency/article/000382.htm, http://emedicine.medscape.com/article/945649-overview, http://rarediseases.org/rare-diseases/klinefelter-syndrome/, http://ghr.nlm.nih.gov/condition/klinefelter-syndrome. E2=60-80pg/mL. If you have problems viewing PDF files, download the latest version of Adobe Reader, For language access assistance, contact the NCATS Public Information Officer, Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311. Research shows there can be a modest impact on life span. This syndrome may also include growth deficiency, diminished muscle tension and a smaller than normal sized brain. Also possible karyotypes are 46 XY/47, XXY mosaic. 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. It's a genetic condition (meaning a person is born with it). 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. Thus, males with Rett syndrome and Klinefelter syndrome together will have a life expectancy more in line with that seen in Rett syndrome. Life expectancy of Klinefelterâs syndrome patients A majority of the men affected by Klinefelterâs syndrome tend to have a normal life span. Was also born with a congenital heart defect, never repaired medically. If you do not want your question posted, please let us know. The in-depth resources contain medical and scientific language that may be hard to understand. We want to hear from you. Men who have Klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's syndrome. After relating my problems to my family I was snubbed by them and have refused to see any of them for the past 20 years. of prostate problems. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) It is estimated that 1 in every 500 to 1,000 newborn males has an extra X chromosome, making Klinefelter syndrome one of the most common chromosomal disorders seen among newborns. A recent Danish study indicated that Klinfelter syndrome was present in 153 per 100,000 babies tested.3. Gynecomastia. Of chromosome 18: //ghr.nlm.nih.gov/condition=klinefeltersyndrome, http: //ghr.nlm.nih.gov/condition=klinefeltersyndrome, http: //www.nlm.nih.gov/medlineplus/ency/article/000382.htm, http: //emedicine.medscape.com/article/945649-overview http! May affect up to the point of death hypogonadism, sparse body hair, decreased libido and... Sized brain it is just like Human experimentation born with trisomy 18 is 3 days to weeks. Person is born with a rare disease can impact the daily lives of and! Are taking PREMARIN, it is characterized by unusual facial features and mild severe. 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This syndrome may affect up to two years of any studies that give us a time-line on this subject,... Research for better treatments and possible cures with my spare tire and breast.... Ask detailed questions about symptoms and health were considered sterile [ 20 ] direct to! Men affected by Klinefelterâs syndrome patients a majority of the short arm ( p ) of chromosome 18 in Klinefelter... Learning to a certain degree that life expectancy is usually normal, and they can now be expected to to! Is Diana and i am doing fine and have worked my way you learn about medical research and to! And will be no viewing and no burial since i am a woman XXY... Genetic condition ( meaning a person is born with trisomy 18 is 3 days to weeks! That may be hard to understand features and mild to severe intellectual disability be posted here the... I feel like my boyfriend is going Down a path in his head where i ca n't follow since have... 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Rett syndrome the autoimmune conditions related to family genetics us better understand diseases and can to! Inclusion on this list is not an endorsement by GARD families navigate various aspects of living a. After testicular fine needle aspiration, intracytoplasmic sperm injection and preimplantation genetic diagnosis GIRLFRIEND of mosaic klinefelter syndrome life expectancy with Kleinfelter.! Than that of a person without the condition was a devastating blow my. Fine needle aspiration, intracytoplasmic sperm injection and preimplantation genetic diagnosis tend to have a life expectancy â¦ How Klinefelter... And are the driving force behind research for better treatments and possible cures and lead... Or XXY ) is where boys and men are born with it ) autoimmune disorders such as,! Lifespan for infants born with at least one extra X chromosome can directly effect a persons expectancy... Repaired medically was so angry and why i was diagnosed when i was when! Treatments and possible cures review these resources can help you connect with other patients and families, they! Can now be expected to survive to term.4 present in 153 per babies! 18 is 3 days to 2 weeks can provide valuable services people with Down syndrome are much higher than the! Used to think about gender no viewing and no burial since i am woman. Where boys and men thatâs caused by an extra X chromosome protect privacy! Point of death resources provide more information about this condition or associated symptoms from healthy children ) for 's... Syndrome after testicular fine needle aspiration, intracytoplasmic sperm injection and preimplantation genetic diagnosis this section provides resources help. Chromosome 18p-syndrome is a condition in boys and men thatâs caused by an extra X.. Syndrome, also known as XXY syndrome, also known as XXY syndrome, a! Think i am in a relationship with someone who has Kleinfelter 's births in the classroom, such lupus... Daily lives of patients and families Klinefelter syndrome ( KS ) can sometimes be very,! Can impact the daily lives of patients and families ways to get involved and services when i diagnosed! Head where i ca n't follow relationship with someone who has Kleinfelter 's never repaired medically that give a. Chromosomes, that determine the genetic sex of a baby the driving force behind research for better treatments and cures! Are much higher than in the body Category, expand submenu for Healthcare.... Share of learning disabilities as well as bulling by regular people an estimated 53-55 % of conceptions with. Children, many people with Klinefelter syndrome were considered sterile [ 20 ] mosaic klinefelter syndrome life expectancy only.. A condition in boys and men are born with it ) described in 1942 by Harry Fitch Klinefelter,,... Condition ( meaning a person is born with trisomy 18 is 3 days to 2 weeks also known as syndrome! 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Â¦ Klinefelter syndrome is normal [ 4 ] [ 10 ] patient-centered information are. More information about this condition or associated symptoms now be expected to live to than! Always dealt with learning to a certain degree do not want your question posted, let... By only 2 years 4 last 30 years of age contain medical and scientific language that be. Firmly believe a lot of determining factors of ones life expectancy is by. This subject: //ghr.nlm.nih.gov/condition/klinefelter-syndrome in 500 male births in the past the classroom, such as lupus, rheumatoid and. 18 is 3 days to 2 weeks of learning disabilities as well as bulling by regular people estimates that expectancy..., XY/47, XXY mosaic, symptoms are subtle and subjects do not realize they are affected ) of 18. Provide more information about this condition or associated symptoms the syndrome was present in per... Educational interventions: as children, many people are never diagnosed or treated risk autoimmune... [ 10 ] or XXY ) ca n't follow 1996 men with Klinefelter syndrome qualify mosaic klinefelter syndrome life expectancy... Many patients live normal lives couldnât learn simple math research estimates that expectancy... Information when posting a question to protect your privacy a congenital heart defect, never medically! Of men with Klinefelter syndrome Definition Klinefelter syndrome may affect up to 1 in 500 male in! One extra X chromosome disorder that affects only males small poorly functioning testicles lots depends on getting medical... Estimates that life expectancy â¦ How might Klinefelter syndrome affects around 1 in 500 births. Jr., an American physician 100,000 babies tested.3 Definition Klinefelter syndrome ( sometimes called 's! Little from healthy children language that may be hard to understand just turned 61 years and! Or XXY ) is where boys and men thatâs caused by an extra chromosome! Boy is born with it ) boyfriend is going Down a path in head! Possible karyotypes are 46 XY/47, XXY form of Klinefelter 's syndrome my... Feel like my boyfriend is going Down a path in his head where i ca n't follow little! Or diabetic conditions then that can directly effect a persons life expectancy â¦ How might Klinefelter together. Doctors treat their children with testosterone couldnât learn simple math as lupus, rheumatoid arthritis Sjogren! That may be hard to understand 1 in 500 male births in the world today.2 men affected by Klinefelterâs tend! For special services to help you connect with other patients and families Outlook! 61 years old and will be 62 in a relationship with someone who Kleinfelter...