Introduction. It may also help to improve energy levels. XXY males have an increased risk for breast cancer and cancers that affect blood, bone marrow, or lymph nodes, such as leukemia. Am Fam Physician. Medindia provides you with the latest news and research breakthroughs on Klinefelter´s Syndrome. Males with Klinefelter syndrome should be seen by a team of health care providers. Each person typically has 23 pairs of chromosomes. Learn more about Klinefelter syndrome, including how it affects men's hormone health and what treatment options are available. As men with KS are at slightly higher risk of other conditions, long-term follow-up can help to prevent these. 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 term for this illness was named after an endocrinologist, Harry Klinefelter. Continuing Medical Education . Affected males have an extra X chromosome. Peter Laurberg. Psychological support is also available for KS patients affected by mental health issues. One of these pairs (sex chromosomes) determines a person’s sex. Genes provide specific instructions for body characteristics and functions. ED/Transport Referrals. See more ideas about Klinefelter syndrome, Awareness poster, Awareness. Connecticut Children’s – Waterbury. 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. COVID-19 Resources Refer a Patient. Genetic diseases: People with congenital syndromes such as Down syndrome, Trisomy 8, Fanconi anemia, Bloom syndrome, ataxia-telangiectasia, Diamond-Blackfan anemia, Schwachman-Diamond syndrome, Li-Fraumeni syndrome, neurofibromatosis type 1, Klinefelter syndrome, Wiskott-Aldrich syndrome, familial platelet disorder syndrome, and Kostmann syndrome are at a greater risk. 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 . Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. It typically starts in early childhood. Klinefelter syndrome, also known as the XXY condition, is a term used to describe males who have an extra X chromosome in most of their cells. View Locations Near Me. Departments and specialties Mayo Clinic has one of the largest and most experienced practices in the United States, with campuses in Arizona, Florida and Minnesota. Record Details Catalog Search. An NHS multi-specialty clinic at Guy's hospital, London, UK for patients with Klinefelter syndrome with fertility treatment focus. Klinefelter's Syndrome (KS) is a sex chromosomal disorder like Turner’s syndrome. (A comprehensive clinic in Colorado is dedicated … It's important to remember that because symptoms can be mild, many males with KS are never diagnosed ore treated. OneCall Physician Access Line. Len Robertson thought he pulled a muscle from lifting weights, but it was a sign of male breast cancer. ED/Transport Referrals. The sperm can then be frozen or used immediately for in vitro fertilisation (IVF) with intra-cytoplasmic sperm injection (ICSI) into an egg. One of these is through testosterone treatment. But hormone treatments, counseling, and other therapies can help. Treatment for Down syndrome varies. Chromosomes, found in all body cells, contain genes. 2 It is especially helpful to begin treatment by early puberty. Signs and symptoms can vary. Endocrinology is the management of problems with hormones. Clinical Support Services Referrals. 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. This leads to low testosterone levels, sometimes tall stature and often learning and behavioral challenges. The patient admitted with complaints of inflammatory lower back, and neck pain and morning stiffness and was diagnosed with ankylosing spondylitis. In particular, fertility and hormone treatment can be particularly complex requiring expertise from several specialties. This paper reports a 30-years-old male on followup with the diagnosis of Klinefelters syndrome. Please find 103 such items on this topic. Boys with this condition have an extra "X" chromosome that prevents them from developing normally during puberty. We are a subspecialty program, which means that we do not offer routine primary care but instead we offer our patients a comprehensive evaluation, specific to the needs of people with Klinefelter syndrome. In 1942, Klinefelter et al published a report describing nine men with a constellation of features: testicular dysgenesis, microorchidism, eunuchoidism, gynecomastia, elevated urinary gonadotropins, and azoospermia. Chromosomes, found in all body cells, contain genes. Klinefelter syndrome can lead to weak bones (osteoporosis), varicose veins, and autoimmune diseases (when the immune system acts against the body), such as lupus or rheumatoid arthritis. Download Free PDF. Staff skilled in dozens of specialties work together to ensure quality care and successful recovery. Its commitment to medical education, clinical care and research has made it one of the premier international institutions. Clinical and Pathological Entities ... 3 Department of Pathology, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, One Children's Hospital Drive, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. For KS patients, other than the risks of low testosterone, patients also have an increased risk of diabetes and osteoporosis (weak bones). To this end, GLOBAL has created a map of the US highlighting where there are Down syndrome medical care centers. In patients receiving TRT, it has been suggested that testosterone should be stopped for 6-9 months before undergoing microTESE, to improve sperm retrieval rates. It affects between 1 in 500 and 1 in 1,000 newborn males. It was clinically described for the first time by Kleinfelter in 1942. Thank you and I hope these resources are of assistance to you and your needs. This $5 billion system unites the physicians and scientists of the Johns Hopkins University School of Medicine with the health professionals and facilities that make up the broad, integrated Johns Hopkins Health System. Veterans Resources to assist veterans with services, medical, mental health, moving, employment information, military discounts, and others. Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. 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. Testosterone replacement does not cure infertility, however. Cancer incidence and mortality in men with Klinefelter syndrome: a cohort study. 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. With treatment, men can lead very normal lives. TRT is also an option in adulthood and may help to prevent osteoporosis and improve low mood, concentration levels, energy levels, libido and self-esteem. Klinefelter syndrome is one of the most common genetic disorders Signs and symptoms. Hopkins USA Concierge Service: 855-695-4872, To be the premier center for the clinical care of men with sex chromosomal disorders, To develop standardized testing procedures for this population, To develop treatment guidelines for men with sex chromosomal disorders, To expand the scientific knowledge on the diagnosis, pathophysiology and treatment of the syndrome, Problems at birth, such as testicles that haven’t dropped into the scrotum or a hernia*, Speech and language problems, such as delayed speech, Other difficulties, such as being unable to make plans or solve problems. Endocrinology is the management of problems with hormones. The Johns Hopkins Hospital and its affiliated hospitals and clinics has been ranked #1 by US News and World Report for the last 20 years. New Search INSPIRE Get the APP Find a Library Near Me About Evergreen Which OverDrive Link Do I Use? Help Center; less ; Download Free PDF. They also tend to have excess fat around the abdomen (which raises the risk of health problems), heart and blood vessel disease, and type 2 diabetes. For young patients, the clinic provides an opportunity to discuss present and future fertility issues as well. Klinefelter Syndrome Center Director Adrian Dobs meets with psychiatrist Cynthia Munro to discuss a patient. Compare doctors, read patient reviews and more. Main Campus – Hartford. For KS patients, other than the risks of low testosterone, patients also have an increased risk of diabetes and osteoporosis (weak bones). For example, some genes determine height and hair color. Klinefelter Syndrome is a common chromosomal disorder, affecting one in 550 men. Increased aggression and mood swings can also be seen and it can take some time to find the right dose for each individual patient. The condition cannot be inherited by children of men with KS, even if assisted fertility techniques have been used. 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. The lack of sperm does not affect the ability to have sexual intercourse, and the physical sex life of men with KS is usually normal. There is a study that claims that timely and planned support allotted to young men with this condition can restore present poor psychosocial effects. Klinefelter syndrome is a group of conditions that affects the health of males who are born with at least one extra X chromosome. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. An alternative is to consider donor sperm for fertility treatment, or adoption. The syndrome can also be diagnosed before birth but testing is not routinely done at that time. 2005;72(11):2259- 62. Klinefelter Syndrome Down Syndrome Klinefelter Syndrome Turner Syn Diagnosis is based on a physical examination, hormone testing, and chromosome analysis. 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.. Physiotherapy can help to improve muscle mass and strength, and occupational therapy for co-ordination difficulties associated with the condition. The population frequency is 1: 1000 males. Many men with mosaicism for XXY males do not have all of the signs and symptoms listed below. A baby with one X chromosome and one Y chromosome (XY) is male. Details on how to find your local CCG are here: More information will be provided for you in the clinic about the processes in place for fertility funding. Find a CF Care Center We provide funding for and accredit more than 130 CF care centers nationwide, including more than 100 programs for treating adults with CF. Mission: We are a comprehensive multidisciplinary health care system designed to care for boys and men with KS. 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 MassGeneral Hospital for Children Klinefelter Syndrome clinic takes a multidisciplinary approach to providing quality, coordinated care to individuals living with Klinefelter syndrome. Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. Klinefelter syndrome is a condition that requires a multidisciplinary treatment approach involving one or more of the following specialists: Pediatricians. ; About one of every 500 males has an extra X chromosome, but many don't have any symptoms. As many as two-thirds of men with the syndrome may never be diagnosed. 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. Education and Training. Psychologists and/or psychiatrists. 2. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Departments that treat … Klinefelter Syndrome What Is Klinefelter Syndrome? Allan Flyvbjerg. There is also evidence that thrombo-embolic (abnormal blood clotting) events like deep vein thrombosis (DVT) are more common in Klinefelter Syndrome. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. We provide funding for and accredit more than 130 CF care centers nationwide, including more than 100 programs for treating adults with CF. Compare doctors, read patient reviews and more. Klinefelter syndrome), some cases of cryptorchidism or Sertoli cell-only syndrome as well as acquired conditions by infection (orchitis), surgery (trauma, cancer), radiation,[3] or other causes. For some men with KS who have no sperm in their semen, it is possible to take sperm directly from the testes with surgery called microTESE (microscopic testicular sperm extraction). Treatment may include: Testosterone replacement: About half of people with … 0 records in basket. Klinefelter Syndrome (kline-fel-ter), also known as 47,XXY, is a genetic condition where you have an extra X chromosome. Inpatient Referrals. * when an internal organ bulges through a body cavity wall. More information on the Klinefelter Association can be found on this link here. Klinefelter syndrome is a genetic condition that affects males. Our Hospitals. osterone, erectile dysfunction, and low bone mineral density. Not all patients will have sperm retrieved, but evidence suggests that younger patients have a greater chance of success. Search the Catalog Advanced Search Browse the Catalog. Klinefelter disease is characterized by the presence of at least one extra X chromosome in boys, which leads to impaired puberty in them. Content. When you are told that your genetic makeup is abnormal, it can create a lot of anxiety. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. 2005;97(16):1204-10. Hemophilia is an inherited blood disorder that can lead to chronic health problems such as joint disease over time. However there are treatments available for the problems associated with the condition. 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. Main Campus – Hartford. From the 1889 opening of The Johns Hopkins Hospital, to the opening of the School of Medicine four years later, there emerged the concept of combining research, teaching and patient care. 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. A baby with two X chromosomes (XX) is female. Infertility treatments require specialized—and costly—techniques, but some men with Klinefelter syndrome have been able to father children. Continued treatment throughout life helps prevent long-term health problems. This syndrome affects the testicular growth, results in smaller testicles and may cause reduced muscle mass, reduced facial and body hair. Most males with Klinefelter syndrome, also called XXY males, have two X chromosomes instead of one. Klinefelter’s. Klinefelter syndrome (KS, 47,XXY) is associated with increased psychiatric morbidity and cognitive disabilities, although the neuropsychological phenotype shows great variability. Chromosomes are packages of genes found in every cell in the body. 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. There is no cure for KS (Klinfelter Syndrome). Klinefelter Syndrome and other Anomalies in X and Y Chromosomes. Jens Christiansen. Our clinic will also include patient liaisons and a member of the Klinefelter Association (often a previous patient of the clinic) who can share with you how they manage and live with Klinefelter Syndrome. Our medical specialists act as a team to provide the most up to date services to maintain the long-term health of men with KS. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. The extra X usually occurs in all body cells. Maryland: Down Syndrome Clinic The Kennedy Krieger Institute 707 North Broadway Baltimore, MD phone: 410-502 … Does the health status of infants fathered by nonmosaic Klinefelter syndrome (KS) patients whose partners underwent ICSI with sperm obta 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. And Y chromosomes boys with the diagnosis of Klinefelters syndrome board `` Klinefelters,. 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