Endocrinologists. 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. Testosterone replacement does not cure infertility, however. Urologists. Download Free PDF. But problems with their testicles prevent them from making enough normal sperm to father children. The primary features are infertility and small poorly functioning testicles. 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. Our Hospitals. The MassGeneral Hospital for Children Klinefelter Syndrome clinic takes a multidisciplinary approach to providing quality, coordinated care to individuals living with Klinefelter syndrome. Allan Flyvbjerg. 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.. Location The Men's Health Center 180 Corliss Street, Suite C Providence, RI 02904 Directions >> What is Klinefelter syndrome? A Haven for Those With Klinefelter Syndrome. The Klinefelter syndrome clinic has been established to give patients access to expertise in urology, fertility, genetics, endocrinology, radiological diagnostics and … Reference USA. There is also evidence that thrombo-embolic (abnormal blood clotting) events like deep vein thrombosis (DVT) are more common in Klinefelter Syndrome. 188 This incidence may be increasing. Graduate Medical Education. Connecticut Children’s – Waterbury. The condition cannot be inherited by children of men with KS, even if assisted fertility techniques have been used. Am Fam Physician. Clinical Support Services Referrals. She has been with the Department of GYN/OB at Johns Hopkins Hospital for over 20 years, providing genetic counseling in the Prenatal Diagnosis and Treatment Center. Males with Klinefelter syndrome should be seen by a team of health care providers. Experts recommend testosterone replacement, starting during puberty, for proper development of muscles, bones, male sex characteristics such as facial hair, and sexual function. 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. Endocrinologists and urologists both manage testosterone replacement therapy for the patient. Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. 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. COVID-19 Resources Refer a Patient. A good example of the one of the most difficult cases of azoospermia is the so-called Klinefelter’s in which the azoospermic man has two X (47XXY) chromosomes instead of one X (46XY) chromosome. Graduate Medical Education. The term for this illness was named after an endocrinologist, Harry Klinefelter. Departments that treat … Inpatient Referrals. Staff skilled in dozens of specialties work together to ensure quality care and successful recovery. 2. Veterans Resources to assist veterans with services, medical, mental health, moving, employment information, military discounts, and others. As many as two-thirds of men with the syndrome may never be diagnosed. 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. Infertility specialists. 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. Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. This model, the first of its kind, would lead to a national and international reputation for excellence and discovery. Klinefelter Syndrome and other Anomalies in X and Y Chromosomes. In particular, fertility and hormone treatment can be particularly complex requiring expertise from several specialties. Continuing Medical Education . Mar 3, 2015 - Explore Christy Jones's board "Klinefelters", followed by 103 people on Pinterest. 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. For example, some genes determine height and hair color. The Metabolic Syndrome Is Frequent in Klinefelter's Syndrome and Is Associated With Abdominal Obesity and Hypogonadism. Hormone testing. Causes for testicular failure include congenital issues such as in certain genetic conditions (e.g. Denschlag D, Tempfer C, Kunze M, Wolff G, Keck C. Assisted reproductive techniques in patients with Klinefelter syndrome: a critical review. Medindia provides you with the latest news and research breakthroughs on Klinefelter´s Syndrome. Physiotherapy can help to improve muscle mass and strength, and occupational therapy for co-ordination difficulties associated with the condition. Signs and symptoms can vary. Boys and men with the chromosomal disorder Klinefelter syndrome, or XXY male, have a new resource for treatment and medical management. 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. But hormone treatments, counseling, and other therapies can help. Chromosomes, found in all body cells, contain genes. An NHS multi-specialty clinic at Guy's hospital, London, UK for patients with Klinefelter syndrome with fertility treatment focus. Treatment may include: Testosterone replacement: About half of people with … Klinefelter's syndrome is a genetic condition that only affects males. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Many men with mosaicism for XXY males do not have all of the signs and symptoms listed below. Klinefelter syndrome, 47,XXY (KS), occurs in about 150 per 100,000 males and is the most frequent chromosomal aberration in males. As men, most guys with Klinefelter syndrome can have sex, usually with the help of testosterone treatment. osterone, erectile dysfunction, and low bone mineral density. 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. 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. Your providers may help you develop a care team for your family member with Down syndrome. 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). 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. It’s congenital, which means that you’re born with it. Klinefelter syndrome, 47, XXY is a clinical example of sex chromosome lesions. 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. 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. Here are the symptoms he had and his message to all men. Hemophilia is an inherited blood disorder that can lead to chronic health problems such as joint disease over time. [] The etiology was thought to be due to an endocrine disorder of unknown cause, until 1959, when Jacobs et al recognized that Klinefelter syndrome was a … 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. Recent findings Sperm can be found in over 50% of men with Klinefelter syndrome, thus men with Klinefelter syndrome are not sterile. 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. If you come across other Veterans Resources and you would like me to add them, please message me through this website and I will be glad to add the site(s). Leif Mosekilde. Birth Defects Could Raise the … The Mass General Difference. Continuing Medical Education . Not all patients will have sperm retrieved, but evidence suggests that younger patients have a greater chance of success. It was clinically described for the first time by Kleinfelter in 1942. 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. 0 records in basket. Fertility researchers are working on new treatments. Smoking, low calcium intake, and lack of exercise are particularly associated with an increased risk of developing osteoporosis, and it is recommended that men with KS attend DEXA scans (a scan that measures bone density) to check for any changes to their bones. 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). More information on the Klinefelter Association can be found on this link here. The patient had Klinefelter syndrome associated with an atrial septal defect and the cleft of the anterior leaflet of the mitral valve. However there are treatments available for the problems associated with the condition. It is a very complicated subject and other conditions may be found by accident. 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. Today, Johns Hopkins uses one overarching name—Johns Hopkins Medicine—to identify its entire medical enterprise. The case of a 25-year-old man with a partial atrioventricular canal defect (PAVCD) with Klinefelter syndrome is reported here. Education and Training. Help Center; less ; Download Free PDF. Surgery may be needed to reduce breast size. 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. Infertility treatments require specialized—and costly—techniques, but some men with Klinefelter syndrome have been able to father children. OneCall Physician Access Line. Klinefelter Syndrome Down Syndrome Klinefelter Syndrome Turner Syn Record Details Catalog Search. 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. Congenital, which means that you ’ re born with an important source of clinically relevant information about syndrome! 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