Compare doctors, read patient reviews and more. Am Fam Physician. Here are the symptoms he had and his message to all men. General practitioners. For those with excess breast tissue (gynaecomastia), breast reduction surgery may be offered if this does not resolve with optimised testosterone therapy. Clinical Support Services Referrals. Graduate Medical Education. Please find 103 such items on this topic. 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. Boys and men with the chromosomal disorder Klinefelter syndrome, or XXY male, have a new resource for treatment and medical management. For young patients, the clinic provides an opportunity to discuss present and future fertility issues as well. 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. 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. Connecticut Children’s – Waterbury. See more ideas about Klinefelter syndrome, Awareness poster, Awareness. Klinefelter disease is characterized by the presence of at least one extra X chromosome in boys, which leads to impaired puberty in them. Klinefelter Syndrome (kline-fel-ter), also known as 47,XXY, is a genetic condition where you have an extra X chromosome. Klinefelter syndrome is one of the most common chromosome conditions in newborns. 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. Connecticut Children’s – Waterbury. The team may include endocrinologists, general practitioners, pediatricians, urologists, speech therapists, genetic counselors, and psychologists. View Locations Near Me. Content. The patients who suffer with XXY syndrome are called XXY males or 47,XXY males. 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. 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. Education and Training. Veterans Resources to assist veterans with services, medical, mental health, moving, employment information, military discounts, and others. 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. More information on the Klinefelter Association can be found on this link here. The Klinefelter syndrome clinic has been established to give patients access to expertise in urology, fertility, genetics, endocrinology, radiological diagnostics and … Book an appointment today. The primary features are infertility and small poorly functioning testicles. 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. Other genes influence language skills and reproductive functions. Your providers may help you develop a care team for your family member with Down syndrome. Genes provide specific instructions for body characteristics and functions. Many men with KS who do not receive treatment live normal, healthy lives. There is a study that claims that timely and planned support allotted to young men with this condition can restore present poor psychosocial effects. Mild cases of Klinefelter syndrome may require no treatment. Book an appointment today. This paper reports a 30-years-old male on followup with the diagnosis of Klinefelters syndrome. For example, some genes determine height and hair color. Compare doctors, read patient reviews and more. It’s congenital, which means that you’re born with it. KS is to do with your genes so lifestyle changes cannot cause or cure it. Fertility researchers are working on new treatments. 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]. 2. TRT involves testosterone administered as gels, skin patches or injections. Experts recommend testosterone replacement, starting during puberty, for proper development of muscles, bones, male sex characteristics such as facial hair, and sexual function. OneCall Physician Access Line. Hemophilia is an inherited blood disorder that can lead to chronic health problems such as joint disease over time. Mar 3, 2015 - Explore Christy Jones's board "Klinefelters", followed by 103 people on Pinterest. The syndrome can also be diagnosed before birth but testing is not routinely done at that time. 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. Help Center; less ; Download Free PDF. 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. Genes provide specific instructions for body characteristics and functions. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. Rarely, a more severe form occurs when there are two or more extra X chromosomes. Denschlag D, Tempfer C, Kunze M, Wolff G, Keck C. Assisted reproductive techniques in patients with Klinefelter syndrome: a critical review. Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. TRT does not improve sperm production and, if fertility is important, TRT should be delayed until after fertility issues have been addressed. This syndrome is non-curable; however there are available treatments to cure the symptoms brought by Klinefelter's syndrome. Ms. Lawson also has participated in the education of medical students, OB residents, maternal fetal medicine fellow, genetics fellows and genetic counseling graduate students. But problems with their testicles prevent them from making enough normal sperm to father children. Our doctors work with patients’ primary care providers to identify specialty needs, to coordinate care, and to improve outc… Klinefelter syndrome affects 1 in 500-1,000 newborn males, making it is one of the most common chromosomal disorders. 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. COVID-19 Resources Refer a Patient. 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 … Endocrinologists. AbstractSTUDY QUESTION. Klinefelter syndrome (KS, 47,XXY) is associated with increased psychiatric morbidity and cognitive disabilities, although the neuropsychological phenotype shows great variability. 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. 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. Increased aggression and mood swings can also be seen and it can take some time to find the right dose for each individual patient. 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 some men, hormonal manipulation with stimulatory drugs is sometimes tried before this procedure. Klinefelter Syndrome Center Director Adrian Dobs meets with psychiatrist Cynthia Munro to discuss a patient. But hormone treatments, counseling, and other therapies can help. Is there anything I can do to help myself? Cancer incidence and mortality in men with Klinefelter syndrome: a cohort study. As men, most guys with Klinefelter syndrome can have sex, usually with the help of testosterone treatment. There is also evidence that thrombo-embolic (abnormal blood clotting) events like deep vein thrombosis (DVT) are more common in Klinefelter Syndrome. Showing posts with the label klinefelter syndrome down syndrome klinefelter syndrome turner syndrome. To this end, GLOBAL has created a map of the US highlighting where there are Down syndrome medical care centers. When you are told that your genetic makeup is abnormal, it can create a lot of anxiety. 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. Find the best doctors for treating Klinefelter Syndrome in Tampa. Klinefelter syndrome is a genetic condition that affects males. Len Robertson thought he pulled a muscle from lifting weights, but it was a sign of male breast cancer. Klinefelter syndrome is a fairly common genetic condition found in males only.. The Mass General Difference. 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). The population frequency is 1: 1000 males. New Search INSPIRE Get the APP Find a Library Near Me About Evergreen Which OverDrive Link Do I Use? Show all . Infertility specialists. Klinefelter Syndrome is a common chromosomal disorder, affecting one in 550 men. There is also evidence that thrombo-embolic (abnormal blood clotting) events like deep vein thrombosis (DVT) are more common in Klinefelter Syndrome. Treatment for Down syndrome varies. 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. Diagnosis is based on a physical examination, hormone testing, and chromosome analysis. Klinefelter syndrome is a group of conditions that affects the health of males who are born with at least one extra X chromosome. 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. Klinefelter syndrome is one of the most common chromosomal disorders, affecting 1/500 to 1/1,000 newborn males. 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. Funding for fertility therapy will depend on your Care Commissioning Group (CCG). An NHS multi-specialty clinic at Guy's hospital, London, UK for patients with Klinefelter syndrome with fertility treatment focus. Signs and symptoms can vary. Most males with Klinefelter syndrome, also called XXY males, have two X chromosomes instead of one. 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). Klinefelter syndrome is a genetic condition in which boys have an extra X chromosome. 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. 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. While KS individuals have an extra X chromosome making the total number of … To be clear, only centers specifically specializing in treating patients with Down syndrome are listed. Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. 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.. An alternative is to consider donor sperm for fertility treatment, or adoption. ; About one of every 500 males has an extra X chromosome, but many don't have any symptoms. GLOBAL recommends parents or caregivers of children with Down syndrome follow the 2011 American Academy of Pediatrics Health Supervision for Children With Down Syndrome . Urologists. 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. Search the Catalog Advanced Search Browse the Catalog. Peter Laurberg. 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. Endocrinology is the management of problems with hormones. Some males have no symptoms but a doctor will be able to see subtle physical signs of the syndrome. For example, some genes determine height and hair color. Variants of … Klinefelter syndrome is a group of conditions that affects the health of males who are born with at least one extra X chromosome. Boys and men with the chromosomal disorder Klinefelter syndrome, or XXY male, have a new resource for treatment and medical management. Diabetes Care, 2006. The purpose is for you and your child with Down syndrome to learn to cope with the condition, as well as treat what physical and cognitive (thinking) challenges arise. Treatment can help males overcome many of the physical, social, and learning problems that are part of the syndrome. 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 . Often, symptoms are subtle and subjects do not realize they are affected. Testosterone replacement does not cure infertility, however. This can be managed by assisted reproductive procedure and may make possible t… One of these pairs (sex chromosomes) determines a person’s sex. The extra X usually occurs in all body cells. 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. For KS patients, other than the risks of low testosterone, patients also have an increased risk of diabetes and osteoporosis (weak bones). Klinefelter syndrome, 47,XXY (KS), occurs in about 150 per 100,000 males and is the most frequent chromosomal aberration in males. Education and Training. 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. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. The case of a 25-year-old man with a partial atrioventricular canal defect (PAVCD) with Klinefelter syndrome is reported here. Klinefelter Syndrome and other Anomalies in X and Y Chromosomes. 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. Reference USA. Specialty Referrals. Each person typically has 23 pairs of chromosomes. 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. The patient admitted with complaints of inflammatory lower back, and neck pain and morning stiffness and was diagnosed with ankylosing spondylitis. 188 This incidence may be increasing. Boys with this condition have an extra "X" chromosome that prevents them from developing normally during puberty. 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. Appointments and Referrals Call us at 401-793-4636 (4MEN) for more information about our services, or to make an appointment, or refer a patient. * when an internal organ bulges through a body cavity wall. Chromosome analysis. It affects between 1 in 500 and 1 in 1,000 newborn males. As men with KS are at slightly higher risk of other conditions, long-term follow-up can help to prevent these. Genetic material, or DNA, is contained in tiny structures called chromosomes that are found inside the body’s cells. Wattendorf DJ, Muenke M. Klinefelter syndrome. Record Details Catalog Search. Claus Gravholt. 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. It typically starts in early childhood. Endocrinology is the management of problems with hormones. Specialty Referrals. 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. This syndrome affects the testicular growth, results in smaller testicles and may cause reduced muscle mass, reduced facial and body hair. This model, the first of its kind, would lead to a national and international reputation for excellence and discovery. 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). Case report. 23-16). Thank you and I hope these resources are of assistance to you and your needs. Monday to Friday 8 a.m. to 4:30 p.m. TRT requires careful monitoring, however many men safely receive this treatment under supervision of their doctor. XXY males have an increased risk for breast cancer and cancers that affect blood, bone marrow, or lymph nodes, such as leukemia. The Metabolic Syndrome Is Frequent in Klinefelter's Syndrome and Is Associated With Abdominal Obesity and Hypogonadism. Our Hospitals. Leif Mosekilde. 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. Does the health status of infants fathered by nonmosaic Klinefelter syndrome (KS) patients whose partners underwent ICSI with sperm obta The patient had Klinefelter syndrome associated with an atrial septal defect and the cleft of the anterior leaflet of the mitral valve. Not all patients will have sperm retrieved, but evidence suggests that younger patients have a greater chance of success. What happens if I do not receive treatment? 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. 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, 47, XXY is a clinical example of sex chromosome lesions. 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. J Natl Cancer Inst. Graduate Medical Education. Affected males have an extra X chromosome. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. Sometimes the extra X only occurs in some cells, resulting in a less severe form of the syndrome. 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. 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. Introduction. 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. A genetics counsellor is essential to the clinics, and can help you understand this better. 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. Many men with mosaicism for XXY males do not have all of the signs and symptoms listed below. Surgery may be needed to reduce breast size. Its commitment to medical education, clinical care and research has made it one of the premier international institutions. Request PDF | Sperm retrieval rates in non-mosaic Klinefelter patients undergoing testicular sperm extraction: What expectations do we have in the real-life setting? The sperm can then be frozen or used immediately for in vitro fertilisation (IVF) with intra-cytoplasmic sperm injection (ICSI) into an egg. Download Free PDF. Klinefelter syndrome and its variants are the most common forms of sex chromosome aneuploidy, with a reported incidence of 1 in 500 to 1 in 1000 live births. We provide funding for and accredit more than 130 CF care centers nationwide, including more than 100 programs for treating adults with CF. Main Campus – Hartford. The high quality of specialized care available throughout the care center network has led to the improved length and quality of … It is a very complicated subject and other conditions may be found by accident. Hormone testing. Inpatient Referrals. The MassGeneral Hospital for Children Klinefelter Syndrome clinic takes a multidisciplinary approach to providing quality, coordinated care to individuals living with Klinefelter syndrome. 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. Departments that treat … 2005;72(11):2259- 62. 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. [] 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 … A baby with two X chromosomes (XX) is female. Klinefelter syndrome is one of the most common genetic disorders 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. Staff skilled in dozens of specialties work together to ensure quality care and successful recovery. As a result, input from a medical specialist, specifically an endocrinologist, is needed to make sure you remains healthy. 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. Undergraduate Medical Education. Males with Klinefelter syndrome should be seen by a team of health care providers. A Haven for Those With Klinefelter Syndrome. Jens Christiansen. 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. Klinefelter's Syndrome (KS) is a sex chromosomal disorder like Turner’s syndrome. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. ED/Transport Referrals. Inpatient Referrals. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Treatment may include: Testosterone replacement: About half of people with … View Locations Near Me. Psychologists and/or psychiatrists. Continuing Medical Education . However, if the disorder is managed properly, people with hemophilia can live long, healthy lives. It was clinically described for the first time by Kleinfelter in 1942. Location The Men's Health Center 180 Corliss Street, Suite C Providence, RI 02904 Directions >> What is Klinefelter syndrome? Chromosomes, found in all body cells, contain genes. Many males are not diagnosed until puberty or adulthood. Klinefelter’s. In particular, fertility and hormone treatment can be particularly complex requiring expertise from several specialties. OneCall Physician Access Line. Continuing Medical Education . If treatment is started around the age of puberty, it can help boys with the sexual development of their bodies. Allan Flyvbjerg. Psychological support is also available for KS patients affected by mental health issues. A 25-year-old man was admitted to our hospital with fatigue after activity. It used to be thought that these men could never father children and had the worst prognosis of any male infertility. This review is aimed to provide the practicing urologist with an important source of clinically relevant information about Klinefelter syndrome. 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