Fertility researchers are working on new treatments. Surgery may be needed to reduce breast size. Klinefelter Syndrome and other Anomalies in X and Y Chromosomes. Most males with Klinefelter syndrome, also called XXY males, have two X chromosomes instead of one. The patient had Klinefelter syndrome associated with an atrial septal defect and the cleft of the anterior leaflet of the mitral valve. 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. Klinefelter syndrome, 47,XXY (KS), occurs in about 150 per 100,000 males and is the most frequent chromosomal aberration in males. Departments that treat … Medindia provides you with the latest news and research breakthroughs on Klinefelter´s Syndrome. Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. Klinefelter Syndrome is a common chromosomal disorder, affecting one in 550 men. Klinefelter syndrome is one of the most common chromosome conditions in newborns. The high quality of specialized care available throughout the care center network has led to the improved length and quality of … 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. Affected males have an extra X chromosome. Diabetes Care, 2006. A 25-year-old man was admitted to our hospital with fatigue after activity. Request PDF | Sperm retrieval rates in non-mosaic Klinefelter patients undergoing testicular sperm extraction: What expectations do we have in the real-life setting? To be clear, only centers specifically specializing in treating patients with Down syndrome are listed. Len Robertson thought he pulled a muscle from lifting weights, but it was a sign of male breast cancer. Many men with mosaicism for XXY males do not have all of the signs and symptoms listed below. Clinical Support Services Referrals. TRT involves testosterone administered as gels, skin patches or injections. Graduate Medical Education. The sperm can then be frozen or used immediately for in vitro fertilisation (IVF) with intra-cytoplasmic sperm injection (ICSI) into an egg. Klinefelter Syndrome What Is Klinefelter Syndrome? 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. 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). 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. Your providers may help you develop a care team for your family member with Down syndrome. 1942 was the year when he first described the XXY syndrome. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. As men with KS are at slightly higher risk of other conditions, long-term follow-up can help to prevent these. Veterans Resources to assist veterans with services, medical, mental health, moving, employment information, military discounts, and others. Our doctors work with patients’ primary care providers to identify specialty needs, to coordinate care, and to improve outc… osterone, erectile dysfunction, and low bone mineral density. Education and Training. J Natl Cancer Inst. 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. Klinefelter syndrome, 47, XXY is a clinical example of sex chromosome lesions. View Locations Near Me. It affects between 1 in 500 and 1 in 1,000 newborn males. View Locations Near Me. Klinefelter's syndrome is a genetic condition that only 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. Males with Klinefelter syndrome should be seen by a team of health care providers. A baby with two X chromosomes (XX) is female. Many men with KS who do not receive treatment live normal, healthy 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. 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. We provide funding for and accredit more than 130 CF care centers nationwide, including more than 100 programs for treating adults with CF. Mild cases of Klinefelter syndrome may require no treatment. Sometimes the extra X only occurs in some cells, resulting in a less severe form of the syndrome. ED/Transport Referrals. 0 records in basket. Mar 3, 2015 - Explore Christy Jones's board "Klinefelters", followed by 103 people on Pinterest. Chromosomes are packages of genes found in every cell in the body. Funding for fertility therapy will depend on your Care Commissioning Group (CCG). 2005;97(16):1204-10. Jens Christiansen. Boys and men with the chromosomal disorder Klinefelter syndrome, or XXY male, have a new resource for treatment and medical management. Download Free PDF. Physiotherapy can help to improve muscle mass and strength, and occupational therapy for co-ordination difficulties associated with the condition. Connecticut Children’s – Waterbury. Inpatient Referrals. 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. Does the health status of infants fathered by nonmosaic Klinefelter syndrome (KS) patients whose partners underwent ICSI with sperm obta 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. ED/Transport Referrals. It's important to remember that because symptoms can be mild, many males with KS are never diagnosed ore treated. 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 primary features are infertility and small poorly functioning testicles. The patient admitted with complaints of inflammatory lower back, and neck pain and morning stiffness and was diagnosed with ankylosing spondylitis. Infertility specialists. Cancer incidence and mortality in men with Klinefelter syndrome: a cohort study. Treatment for Down syndrome varies. A genetics counsellor is essential to the clinics, and can help you understand this better. TRT does not improve sperm production and, if fertility is important, TRT should be delayed until after fertility issues have been addressed. 47 XXY Syndrome Frequency Approximately 1 in every 500 to 1,000 males suffers from this syndrome. Klinefelter syndrome affects 1 in 500-1,000 newborn males, making it is one of the most common chromosomal disorders. General practitioners. Compare doctors, read patient reviews and more. 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. Graduate Medical Education. Staff skilled in dozens of specialties work together to ensure quality care and successful recovery. 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. ; About one of every 500 males has an extra X chromosome, but many don't have any symptoms. Connecticut Children’s – Waterbury. If you should come across other Addiction 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). 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. Today, Johns Hopkins uses one overarching name—Johns Hopkins Medicine—to identify its entire medical enterprise. The Metabolic Syndrome Is Frequent in Klinefelter's Syndrome and Is Associated With Abdominal Obesity and Hypogonadism. Our Hospitals. Mission: We are a comprehensive multidisciplinary health care system designed to care for boys and men with KS. Hemophilia is an inherited blood disorder that can lead to chronic health problems such as joint disease over time. Genetic material, or DNA, is contained in tiny structures called chromosomes that are found inside the body’s cells. Inpatient Referrals. Clinical Support Services Referrals. Klinefelter Syndrome. Diagnosis is based on a physical examination, hormone testing, and chromosome analysis. 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 typically starts in early childhood. For KS patients, other than the risks of low testosterone, patients also have an increased risk of diabetes and osteoporosis (weak bones). With treatment, men can lead very normal lives. 189 The classic form of Klinefelter syndrome is associated with a 47,XXY karyotype and is caused by meiotic nondisjunction of the sex chromosomes during gametogenesis (Fig. This is called a mosaicism, and is very common. A Haven for Those With Klinefelter Syndrome. Klinefelter syndrome is one of the most common genetic disorders One of these is through testosterone treatment. This leads to low testosterone levels, sometimes tall stature and often learning and behavioral challenges. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Claus Gravholt. COVID-19 Resources Refer a Patient. 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. Reference USA. 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. But hormone treatments, counseling, and other therapies can help. Endocrinologists. This syndrome affects the testicular growth, results in smaller testicles and may cause reduced muscle mass, reduced facial and body hair. Case report. One of these pairs (sex chromosomes) determines a person’s sex. Klinefelter syndrome is a fairly common genetic condition found in males only.. 2005;72(11):2259- 62. 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. 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. Klinefelter syndrome is a group of conditions that affects the health of males who are born with at least one extra X chromosome. For young patients, the clinic provides an opportunity to discuss present and future fertility issues as well. 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. Birth Defects Could Raise the … 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. 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. Klinefelter syndrome is a condition that requires a multidisciplinary treatment approach involving one or more of the following specialists: Pediatricians. Chromosomes, found in all body cells, contain genes. 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. OneCall Physician Access Line. Is there anything I can do to help myself? For those with excess breast tissue (gynaecomastia), breast reduction surgery may be offered if this does not resolve with optimised testosterone therapy. 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). Genes provide specific instructions for body characteristics and functions. 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. The population frequency is 1: 1000 males. For some men, hormonal manipulation with stimulatory drugs is sometimes tried before this procedure. Chromosome analysis. Maryland: Down Syndrome Clinic The Kennedy Krieger Institute 707 North Broadway Baltimore, MD phone: 410-502 … When you are told that your genetic makeup is abnormal, it can create a lot of anxiety. 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 … Please find 103 such items on this topic. Klinefelter syndrome is one of the most common chromosomal disorders, affecting 1/500 to 1/1,000 newborn males. 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. Endocrinology is the management of problems with hormones. Klinefelter syndrome is a genetic condition that affects males. An NHS multi-specialty clinic at Guy's hospital, London, UK for patients with Klinefelter syndrome with fertility treatment focus. But problems with their testicles prevent them from making enough normal sperm to father children. However, if the disorder is managed properly, people with hemophilia can live long, healthy lives. Content. Introduction. Often, symptoms are subtle and subjects do not realize they are affected. Each person typically has 23 pairs of chromosomes. Infertility treatments require specialized—and costly—techniques, but some men with Klinefelter syndrome have been able to father children. Specialty Referrals. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. Education and Training. As a result, input from a medical specialist, specifically an endocrinologist, is needed to make sure you remains healthy. 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. 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. Am Fam Physician. To this end, GLOBAL has created a map of the US highlighting where there are Down syndrome medical care centers. Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. Signs and symptoms can vary. What happens if I do not receive treatment? Ms. Lawson also has participated in the education of medical students, OB residents, maternal fetal medicine fellow, genetics fellows and genetic counseling graduate students. Continuing Medical Education . 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. Allan Flyvbjerg. 2. KS is to do with your genes so lifestyle changes cannot cause or cure it. 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. Variants of … 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. Our Hospitals. There is a study that claims that timely and planned support allotted to young men with this condition can restore present poor psychosocial effects. There is no cure for KS (Klinfelter Syndrome). Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. Monday to Friday 8 a.m. to 4:30 p.m. Klinefelter syndrome (KS, 47,XXY) is associated with increased psychiatric morbidity and cognitive disabilities, although the neuropsychological phenotype shows great variability. Show all . Leif Mosekilde. Endocrinologists and urologists both manage testosterone replacement therapy for the patient. The Mass General Difference. The case of a 25-year-old man with a partial atrioventricular canal defect (PAVCD) with Klinefelter syndrome is reported here. Gel preparations are popular as they work well and are easy to use, avoiding the need for injections, particularly in children. However there are treatments available for the problems associated with the condition. Chromosomes, found in all body cells, contain genes. The term for this illness was named after an endocrinologist, Harry Klinefelter. It may also help to improve energy levels. As men, most guys with Klinefelter syndrome can have sex, usually with the help of testosterone treatment. 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. Thank you and I hope these resources are of assistance to you and your needs. Some males have no symptoms but a doctor will be able to see subtle physical signs of the syndrome. Klinefelter disease is characterized by the presence of at least one extra X chromosome in boys, which leads to impaired puberty in them. Boys and men with the chromosomal disorder Klinefelter syndrome, or XXY male, have a new resource for treatment and medical management. See more ideas about Klinefelter syndrome, Awareness poster, Awareness. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. As many as two-thirds of men with the syndrome may never be diagnosed. 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. 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. X usually occurs in all body cells, resulting in a less severe form klinefelter syndrome treatment centers near me when there are two more... Supervision of their bodies XXY, is needed to make sure you remains.! 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