A genetics counsellor is essential to the clinics, and can help you understand this better. OneCall Physician Access Line. More information on the Klinefelter Association can be found on this link here. Am Fam Physician. Sometimes the extra X only occurs in some cells, resulting in a less severe form of the syndrome. Klinefelter syndrome is one of the most common chromosomal disorders, affecting 1/500 to 1/1,000 newborn males. Connecticut Children’s – Waterbury. 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. 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. Many men with mosaicism for XXY males do not have all of the signs and symptoms listed below. As many as two-thirds of men with the syndrome may never be diagnosed. 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. Is there anything I can do to help myself? 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). As men, most guys with Klinefelter syndrome can have sex, usually with the help of testosterone treatment. Today, Johns Hopkins uses one overarching name—Johns Hopkins Medicine—to identify its entire medical enterprise. 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. The syndrome can also be diagnosed before birth but testing is not routinely done at that time. Hemophilia is an inherited blood disorder that can lead to chronic health problems such as joint disease over time. Our Hospitals. Claus Gravholt. 2 It is especially helpful to begin treatment by early puberty. As a result, input from a medical specialist, specifically an endocrinologist, is needed to make sure you remains healthy. 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. Graduate Medical Education. Many men with KS who do not receive treatment live normal, healthy lives. Speech therapists. Klinefelter Syndrome. Clinical Support Services Referrals. There is also evidence that thrombo-embolic (abnormal blood clotting) events like deep vein thrombosis (DVT) are more common in Klinefelter Syndrome. If treatment is started around the age of puberty, it can help boys with the sexual development of their bodies. Genes provide specific instructions for body characteristics and functions. AbstractSTUDY QUESTION. This syndrome affects the testicular growth, results in smaller testicles and may cause reduced muscle mass, reduced facial and body hair. Request PDF | Sperm retrieval rates in non-mosaic Klinefelter patients undergoing testicular sperm extraction: What expectations do we have in the real-life setting? 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. It was clinically described for the first time by Kleinfelter in 1942. Klinefelter syndrome is a genetic condition in which boys have an extra X chromosome. ; About one of every 500 males has an extra X chromosome, but many don't have any symptoms. 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.. Jude Medcalf, 23, of Newton Abbot, Devon, committed a spate of crimes after being diagnosed with Klinefelter syndrome, a rare growth disorder. New Search INSPIRE Get the APP Find a Library Near Me About Evergreen Which OverDrive Link Do I Use? Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. But problems with their testicles prevent them from making enough normal sperm to father children. 2005;97(16):1204-10. Klinefelter Syndrome is a common chromosomal disorder, affecting one in 550 men. Urologists. Record Details Catalog Search. KS is to do with your genes so lifestyle changes cannot cause or cure it. Boys and men with the chromosomal disorder Klinefelter syndrome, or XXY male, have a new resource for treatment and medical management. Variants of … Increased aggression and mood swings can also be seen and it can take some time to find the right dose for each individual patient. For example, some genes determine height and hair color. 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. 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. Location The Men's Health Center 180 Corliss Street, Suite C Providence, RI 02904 Directions >> What is Klinefelter syndrome? 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. Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. It’s congenital, which means that you’re born with it. 1942 was the year when he first described the XXY syndrome. 0 records in basket. Does the health status of infants fathered by nonmosaic Klinefelter syndrome (KS) patients whose partners underwent ICSI with sperm obta Klinefelter's syndrome is a genetic condition that only affects males. 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). Klinefelter Syndrome and other Anomalies in X and Y Chromosomes. Maryland: Down Syndrome Clinic The Kennedy Krieger Institute 707 North Broadway Baltimore, MD phone: 410-502 … 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. 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. The team may include endocrinologists, general practitioners, pediatricians, urologists, speech therapists, genetic counselors, and psychologists. A baby with two X chromosomes (XX) is female. Find the best doctors for treating Klinefelter Syndrome in Atlanta. Specialty Referrals. Mission: We are a comprehensive multidisciplinary health care system designed to care for boys and men with KS. This syndrome is non-curable; however there are available treatments to cure the symptoms brought by Klinefelter's 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 . Males with Klinefelter syndrome should be seen by a team of health care providers. Klinefelter Syndrome Center Director Adrian Dobs meets with psychiatrist Cynthia Munro to discuss a patient. While KS individuals have an extra X chromosome making the total number of … 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. Infertility specialists. As men with KS are at slightly higher risk of other conditions, long-term follow-up can help to prevent these. A baby with one X chromosome and one Y chromosome (XY) is male. Mar 3, 2015 - Explore Christy Jones's board "Klinefelters", followed by 103 people on Pinterest. 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. Content. 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. * when an internal organ bulges through a body cavity wall. Klinefelter Syndrome What Is Klinefelter Syndrome? An alternative is to consider donor sperm for fertility treatment, or adoption. Funding for fertility therapy will depend on your Care Commissioning Group (CCG). (A comprehensive clinic in Colorado is dedicated … Birth Defects Could Raise the … Help Center; less ; Download Free PDF. What happens if I do not receive treatment? 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. Search the Catalog Advanced Search Browse the Catalog. Compare doctors, read patient reviews and more. 47 XXY Syndrome Frequency Approximately 1 in every 500 to 1,000 males suffers from this syndrome. Psychologists and/or psychiatrists. Klinefelter syndrome is a group of conditions that affects the health of males who are born with at least one extra X chromosome. Its commitment to medical education, clinical care and research has made it one of the premier international institutions. Klinefelter Syndrome Down Syndrome Klinefelter Syndrome Turner Syn It typically starts in early childhood. This model, the first of its kind, would lead to a national and international reputation for excellence and discovery. Infertility treatments require specialized—and costly—techniques, but some men with Klinefelter syndrome have been able to father children. Book an appointment today. 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. Each person typically has 23 pairs of chromosomes. Experts recommend testosterone replacement, starting during puberty, for proper development of muscles, bones, male sex characteristics such as facial hair, and sexual function. Cancer incidence and mortality in men with Klinefelter syndrome: a cohort study. A 25-year-old man was admitted to our hospital with fatigue after activity. Ms. Lawson also has participated in the education of medical students, OB residents, maternal fetal medicine fellow, genetics fellows and genetic counseling graduate students. 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. Denschlag D, Tempfer C, Kunze M, Wolff G, Keck C. Assisted reproductive techniques in patients with Klinefelter syndrome: a critical review. 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. In particular, fertility and hormone treatment can be particularly complex requiring expertise from several specialties. Most males with Klinefelter syndrome, also called XXY males, have two X chromosomes instead of one. Other genes influence language skills and reproductive functions. osterone, erectile dysfunction, and low bone mineral density. Clinical Support Services Referrals. General practitioners. Klinefelter's Syndrome (KS) is a sex chromosomal disorder like Turner’s syndrome. There is also evidence that thrombo-embolic (abnormal blood clotting) events like deep vein thrombosis (DVT) are more common in Klinefelter Syndrome. ED/Transport Referrals. Chromosomes are packages of genes found in every cell in the body. The primary features are infertility and small poorly functioning testicles. 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. For those with excess breast tissue (gynaecomastia), breast reduction surgery may be offered if this does not resolve with optimised testosterone therapy. XXY males have an increased risk for breast cancer and cancers that affect blood, bone marrow, or lymph nodes, such as leukemia. [] 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 … 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. The MassGeneral Hospital for Children Klinefelter Syndrome clinic takes a multidisciplinary approach to providing quality, coordinated care to individuals living with Klinefelter syndrome. The population frequency is 1: 1000 males. Continuing Medical Education . Find the best doctors for treating Klinefelter Syndrome in Tampa. 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 … 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. A Haven for Those With Klinefelter Syndrome. Here are the symptoms he had and his message to all men. 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. Please find 103 such items on this topic. This is called a mosaicism, and is very common. Many males are not diagnosed until puberty or adulthood. The Metabolic Syndrome Is Frequent in Klinefelter's Syndrome and Is Associated With Abdominal Obesity and Hypogonadism. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. The patients who suffer with XXY syndrome are called XXY males or 47,XXY males. 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). Undergraduate Medical Education. Klinefelter syndrome, 47, XXY is a clinical example of sex chromosome lesions. ED/Transport Referrals. 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. Endocrinologists. One of these pairs (sex chromosomes) determines a person’s sex. OneCall Physician Access Line. 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. Here are the symptoms brought by Klinefelter 's syndrome Harry Klinefelter, found in only... 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