Klinefelter syndrome is a group of conditions that affects the health of males who are born with at least one extra X chromosome. We provide funding for and accredit more than 130 CF care centers nationwide, including more than 100 programs for treating adults with CF. Testosterone replacement may be considered once puberty begins, to support development of male characteristics, such as facial and body hair, increased muscle mass, deepening voice and reduced body fat. 0 records in basket. This directory was compiled as a special project of the Canadian Association of Genetic Counsellors (CAGC) and was funded through the generous support of the IODE.The directory is designed as a resource guide for families and professionals seeking information on genetic support groups in Canada. Our Hospitals. As many as two-thirds of men with the syndrome may never be diagnosed. For young patients, the clinic provides an opportunity to discuss present and future fertility issues as well. New Search INSPIRE Get the APP Find a Library Near Me About Evergreen Which OverDrive Link Do I Use? Each person typically has 23 pairs of chromosomes. For those with excess breast tissue (gynaecomastia), breast reduction surgery may be offered if this does not resolve with optimised testosterone therapy. The primary features are infertility and small poorly functioning testicles. Endocrinologists and urologists both manage testosterone replacement therapy for the patient. This can be managed by assisted reproductive procedure and may make possible t… osterone, erectile dysfunction, and low bone mineral density. This syndrome affects the testicular growth, results in smaller testicles and may cause reduced muscle mass, reduced facial and body hair. However there are treatments available for the problems associated with the condition. The Global Down Syndrome Foundation (GLOBAL) is dedicated to significantly improving the lives of people with Down syndrome through Medical Care, Research, Education and Advocacy. 23-16). Often, symptoms are subtle and subjects do not realize they are affected. Show all . But hormone treatments, counseling, and other therapies can help. Mild cases of Klinefelter syndrome may require no treatment. But problems with their testicles prevent them from making enough normal sperm to father children. Klinefelter syndrome is a genetic condition in which boys have an extra X chromosome. To be clear, only centers specifically specializing in treating patients with Down syndrome are listed. 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. Find the best doctors for treating Klinefelter Syndrome in Atlanta. Does the health status of infants fathered by nonmosaic Klinefelter syndrome (KS) patients whose partners underwent ICSI with sperm obta The Johns Hopkins Klinefelter Syndrome Center is the only multidisciplinary program of its kind in the country serving adult males, says endocrinologist Adrian Dobs, the center’s director. A Haven for Those With Klinefelter Syndrome. This syndrome is non-curable; however there are available treatments to cure the symptoms brought by Klinefelter's syndrome. Our Hospitals. One of the consultants who initially told me about the Klinefelter’s syndrome was in the room and I instantly felt relaxed as she actually seems to care – it’s appreciated when you go into a bleakly decorated room to be greeted by a friendly smile and a notion that someone is willing to listen to your story. Klinefelter Syndrome Down Syndrome Klinefelter Syndrome Turner Syn Testosterone in excess can lead to health issues such as liver problems, increased red cell blood count (which can cause stroke or heart problems), and in the long term urinary problems. Treatment may include: Testosterone replacement: About half of people with … Klinefelter syndrome, 47,XXY (KS), occurs in about 150 per 100,000 males and is the most frequent chromosomal aberration in males. View Locations Near Me. There is a study that claims that timely and planned support allotted to young men with this condition can restore present poor psychosocial effects. It typically starts in early childhood. A baby with two X chromosomes (XX) is female. 2005;72(11):2259- 62. * when an internal organ bulges through a body cavity wall. The patient had Klinefelter syndrome associated with an atrial septal defect and the cleft of the anterior leaflet of the mitral valve. 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 condition’s effects. The extra X usually occurs in all body cells. The average age at diagnosis: Turner- and Klinefelter-syndrome 10 years, other gonadal dysgenesis 9 years, 46,XX,t(X;10) 17 years, other abnormalities 1-2 years. Klinefelter Syndrome is a common chromosomal disorder, affecting one in 550 men. OneCall Physician Access Line. Healthy lifestyle changes such as stopping smoking, keeping alcohol intake within recommended limits, maintaining a well-balanced diet, maintaining a healthy weight, and taking part in regular exercise can improve symptoms of low testosterone and reduce the risk of developing KS-associated conditions. Specialty Referrals. As men with KS are at slightly higher risk of other conditions, long-term follow-up can help to prevent these. The patient admitted with complaints of inflammatory lower back, and neck pain and morning stiffness and was diagnosed with ankylosing spondylitis. Diagnosis is based on a physical examination, hormone testing, and chromosome analysis. COVID-19 Resources Refer a Patient. 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. XXY males have an increased risk for breast cancer and cancers that affect blood, bone marrow, or lymph nodes, such as leukemia. It may also help to improve energy levels. Case report. Denschlag D, Tempfer C, Kunze M, Wolff G, Keck C. Assisted reproductive techniques in patients with Klinefelter syndrome: a critical review. Genetic material, or DNA, is contained in tiny structures called chromosomes that are found inside the body’s cells. Main Campus – Hartford. Co‐morbidities, obesity and the metabolic syndrome (MetS), amongst other causes (see later), may contribute independently to individual rates and extent of the apparent age‐related decline of T observed in middle‐aged and elderly men. It is a very complicated subject and other conditions may be found by accident. However, leading an active and healthy lifestyle may improve symptoms of low testosterone, and may reduce the risk of developing conditions such as Type 2 diabetes, osteoporosis, cardiovascular disease, blood clots, mental health conditions, and breast cancer that KS is associated with. Allan Flyvbjerg. This is called a mosaicism, and is very common. Graduate Medical Education. For KS patients, other than the risks of low testosterone, patients also have an increased risk of diabetes and osteoporosis (weak bones). Len Robertson thought he pulled a muscle from lifting weights, but it was a sign of male breast cancer. 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.. Showing posts with the label klinefelter syndrome down syndrome klinefelter syndrome turner syndrome. 2 It is especially helpful to begin treatment by early puberty. The high quality of specialized care available throughout the care center network has led to the improved length and quality of life for people with CF. There is also evidence that thrombo-embolic (abnormal blood clotting) events like deep vein thrombosis (DVT) are more common in Klinefelter Syndrome. Compare doctors, read patient reviews and more. Signs and symptoms can vary. TRT requires careful monitoring, however many men safely receive this treatment under supervision of their doctor. Infertility specialists. Reference USA. OneCall Physician Access Line. Not all patients will have sperm retrieved, but evidence suggests that younger patients have a greater chance of success. Staff skilled in dozens of specialties work together to ensure quality care and successful recovery. Klinefelter syndrome is one of the most common chromosome conditions in newborns. When you are told that your genetic makeup is abnormal, it can create a lot of anxiety. Treatment for Down syndrome varies. It was clinically described for the first time by Kleinfelter in 1942. Our Young Person’s clinic has clinical, educational and neurodevelopmental psychologists who can help our young patients & their parents and we also have specialist psychosexual clinicians (in adults and young persons clinics). Genes provide specific instructions for body characteristics and functions. Jude Medcalf, 23, of Newton Abbot, Devon, committed a spate of crimes after being diagnosed with Klinefelter syndrome, a rare growth disorder. Rarely, a more severe form occurs when there are two or more extra X chromosomes. Today care of men with Klinefelter Syndrome (KS) has become a multidisciplinary approach involving endocrinologists, paediatricians, psychologists, urologists as well as reproductive specialists .KS is one of the most prevalent genetic causes of infertility (11%) in azoospermic males and accounts for 1 to 2% of infertility in the overall male population [2,3]. Introduction. Surgery may be needed to reduce breast size. For example, some genes determine height and hair color. Speech and language therapy can be offered during childhood to aid speech development, as well as educational and behavioural support at school for children with learning and behavioural difficulties. Departments that treat … There is no cure for KS (Klinfelter Syndrome). Record Details Catalog Search. To All Persons Interested in Klinefelter Syndrome or Other X and Y Chromosome Variation Conditions: ... a lot of unnecessary pain and problems until we finally obtained this diagnosis and were able to initiate appropriate treatment. To this end, GLOBAL has created a map of the US highlighting where there are Down syndrome medical care centers. Your providers may help you develop a care team for your family member with Down syndrome. Other genes influence language skills and reproductive functions. What happens if I do not receive treatment? See more ideas about Klinefelter syndrome, Awareness poster, Awareness. Klinefelter Syndrome. Leif Mosekilde. Hemophilia is an inherited blood disorder that can lead to chronic health problems such as joint disease over time. With treatment, men can lead very normal lives. Today, Johns Hopkins uses one overarching name—Johns Hopkins Medicine—to identify its entire medical enterprise. Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. The patients who suffer with XXY syndrome are called XXY males or 47,XXY males. AbstractSTUDY QUESTION. For KS patients, other than the risks of low testosterone, patients also have an increased risk of diabetes and osteoporosis (weak bones). 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. Undergraduate Medical Education. Some males have no symptoms but a doctor will be able to see subtle physical signs of the syndrome. Gel preparations are popular as they work well and are easy to use, avoiding the need for injections, particularly in children. Diabetes Care, 2006. Klinefelter syndrome), some cases of cryptorchidism or Sertoli cell-only syndrome as well as acquired conditions by infection (orchitis), surgery (trauma, cancer), radiation, or other causes. Inpatient Referrals. There is also evidence that thrombo-embolic (abnormal blood clotting) events like deep vein thrombosis (DVT) are more common in Klinefelter Syndrome. May also be called: Klinefelter Syndrome; XXY Condition XXY syndrome, also called Klinefelter syndrome, is a fairly common genetic condition found only in males that happens when a boy is born with an extra sex chromosome in most or all of his cells.. More to Know. Klinefelter Syndrome and other Anomalies in X and Y Chromosomes. Males with Klinefelter syndrome should be seen by a team of health care providers. The condition cannot be inherited by children of men with KS, even if assisted fertility techniques have been used. Klinefelter syndrome is one of the most common chromosomal disorders, affecting 1/500 to 1/1,000 newborn males. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. This model, the first of its kind, would lead to a national and international reputation for excellence and discovery. 1 The earlier in life that KS symptoms are recognized and treated, the more likely it is that the symptoms can be reduced or eliminated. Most males with Klinefelter syndrome, also called XXY males, have two X chromosomes instead of one. TRT does not improve sperm production and, if fertility is important, TRT should be delayed until after fertility issues have been addressed. It’s congenital, which means that you’re born with it. A baby with one X chromosome and one Y chromosome (XY) is male. Continuing Medical Education . The syndrome can also be diagnosed before birth but testing is not routinely done at that time. Endocrinology is the management of problems with hormones. Connecticut Children’s – Waterbury. This review is aimed to provide the practicing urologist with an important source of clinically relevant information about Klinefelter syndrome. We have remained at the forefront of medicine by fostering a culture of collaboration, pushing the boundaries of medical research, educating the brightest medical minds and maintaining an unwavering commitment to the diverse communities we serve. There are many treatment centers that are designed to help patients with Down syndrome including: Connecticut: Down Syndrome Program Division of Human Genetics CT Children's Medical Center 65 Kane Street West Hartford, CT Phone: 860-523-6464 Director: Robert M. Greenstein, MD . Klinefelter Syndrome Center Director Adrian Dobs meets with psychiatrist Cynthia Munro to discuss a patient. Main Campus – Hartford. The term for this illness was named after an endocrinologist, Harry Klinefelter. Klinefelter syndrome is a genetic condition that affects males. The MassGeneral Hospital for Children Klinefelter Syndrome clinic takes a multidisciplinary approach to providing quality, coordinated care to individuals living with Klinefelter syndrome. 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