Klinefelter syndrome is a common genetic where a male is born with an extra X chromosome. Klinefelter syndrome (KS) is the most common abnormality of sex chromosomes (47, XXY or a mosaic karyotype) and is characterized by hypergonadotropic hypogonadism . Faculty: Alvin M. Matsumoto, MD. XXY males have an increased risk for breast cancer and cancers that affect blood, bone marrow, or lymph nodes, such as leukemia. Klinefelter syndrome is the most common sex chromosome abnormality in men. Genes provide specific instructions for body characteristics and functions. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. During the first few years of life, when the need for testosterone is low, most XXY males do not show any obvious differences from typical male infants and young boys. Approximately 80% of cases are caused by 1 extra X chromosome with karyotype 47,XXY (see Figure 281-1).The original series of 9 patients was described by Klinefelter in 1942, 1 but the karyotypic abnormality was not discovered until 1959 by Jacobs and Strong. Klinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a 47,XXY karyotype. Chromosomes, found in all body cells, contain genes. Avoidance of radiation exposure. Nearly 70 years after its description, Klinefelter syndrome (KS) remains a largely undiagnosed condition. This review summarizes the most recent advances in the pathogenesis and management of the endocrine abnormalities in Klinefelter syndrome. Most commonly, affected individuals are taller than average are unable to father biological children (infertile); however the signs and symptoms of Klinefelter syndrome vary among boys and men with this condition. The pediatrician needs to be aware of the increased risk for neuro- ... syndrome Anticipatory guidance for establishing a healthy diet and active lifestyle in childhood. Klinefelter syndrome (also known as XXY syndrome) is a genetic syndrome that is found only in males. For patients diagnosed with KS, a range of management strategies can be used to improve health outcomes and quality of life. Klinefelter syndrome (KS) is a common genetic condition, affecting one in 450 men. 1 KS is caused by the presence, in men, of one or more supernumerary X chromosomes. All individuals with Klinefelter Syndrome will have a Y chromosome which means they will all be males. The degree of symptoms differs based on the amount of testosterone needed for a specific age or developmental stage and the amount of testosterone the body makes or has available. Session Description: This session will review the phenotype and diagnosis of Klinefelter syndrome in peripubertal and adult males, the care of patients with Klinefelter syndrome in transition to adulthood, timing of initiation of testosterone replacement therapy and management of infertility. CHROMOSOMES AND KLINEFELTER SYNDROME Chromosomes, the spaghetti-like strands of hereditary material found in each cell of the body, determine such characteristics as the color of our eyes and hair, our height, and whether we are male or female. KS is associated with testicular malfunction resulting very often in hypogonadism and/or infertility The American Association for Klinefelter Syndrome Information and Support. The establishment of care: Klinefelter syndrome guide begins in the home. You will be the best teacher, role model, and advocate for your son. Most boys with Klinefelter syndrome are tall and have relatively long arms and legs. A personal and professional guide about Klinefelter Syndrome written by two parents who’s sons were diagnosed with this genetic condition. Although many efforts have been put into obtaining an experimental and clinical understanding of the syndrome… • Overall, the diagnosis of Klinefelter syndrome is delayed and is likely underdiagnosed in men • Regardless of timing of diagnosis, important to be aware of the types of conditions men with Klinefelter syndrome are at risk of developing and how we can best prevent and treat these complications For example, some genes determine height and hair color. The most common are Klinefelter syndrome (KS), resulting from the gain of an X chromosome in males, and Turner syndrome (TS), reflecting the loss of an X chromosome or the presence of a structurally different X chromosome in females. 1. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Physical activity [] 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 … It is not inherited. “Klinefelter Syndrome: diagnosis and clinical manage-ment”. Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. This could mean their sex chromosomes could be XXY, XXXY, XXXXY, or something along those lines. The extra X chromosome typically affects physical, neurodevelopmental, behavioral, and neurocognitive functioning. It's important to remember that because symptoms can be mild, many males with KS are never diagnosed ore treated. Currently, KS is diagnosed most commonly at one of four stages of life: 1. Repeat hormonal testing showed increased LH (25.1 IU/L) and FSH (42.6 IU/L) levels. Large population based studies confirm that more than 90% of boys with Klinefelter’s syndrome aged 10-14 years and about 75% of men with the syndrome aged 25-54 years remain undiagnosed 4. Klinefelter syndrome ( KS ), also known as 47,XXY is a syndrome where a male has an additional copy of the X chromosome. The primary features are infertility and small poorly functioning testicles. Klinefelter syndrome is common, affecting one in every 450 men. Diagnosis, Epidemiology, and Genetics The designation “Klinefelter syndrome” is a clinical characterization. Boys may have undescended testicles, and the penis may be smaller than average. Klinefelter’s syndrome affects 1 in 667 live male births and is the most common sex chromosome disorder 4. People with Klinefelter syndrome can experience breast growth, breast cancer, osteoporosis, infertility and learning difficulties. Women usually inherit two X chromosomes--one from each parent. Abstract. Klinefelter syndrome is a genetic condition affecting males, and it often The booklet costs $9.95 + $4.95 (for shipping and handling). Typically, females have two X chromosomes, while males have one X and one Y chromosome. Most boys with Klinefelter syndrome are tall and have relatively long arms and legs. Klinefelter syndrome describes a group of disorders characterized by the presence of at least 1 extra X chromosome in a male. The results showed that he had 46 XXY and was diagnosed as Klinefelter syndrome (classic) by the patient's mother! The earlier in life that KS symptoms are recognized and treated, the more likely it is that the symptoms can be reduced or eliminated. Donor Selection Guidelines / Tissue - Live Donors / A-Z Search / Klinefelter's Syndrome Avoidance of occupational exposure . 2 It … As its clinical presentation may be subtle, many of those affected may be unaware or diagnosed only during evaluation for hypogonadism and/or infertility. The workshop was carried out under the auspices of the Italian Society of Andrology and Sexual Medicine Often, symptoms are subtle and subjects do not realize they are affected. Klinefelter syndrome (KS) is associated with increased insulin resistance and high rates of type 2 diabetes (T2DM). Klinefelter syndrome is considered to be a rare disease. Klinefelter syndrome (KS) is the most frequent chromosome dis-order in men, exhibiting a karyotype of 47,XXY. Read "Klinefelter Syndrome, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions" by Kenneth Kee available from Rakuten Kobo. Klinefelter syndrome (KS) is a genetic condition where there’s an extra X chromosome present in a male’s genetic code. Instead of having a total of 46 chromosomes, they have 47 — with two copies of the X chromosome and one copy of the Y chromosome (47,XXY). 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. Our aim was to review what is known about the prevalence of diabetes in men with KS, potential mechanisms underlying the observed metabolic phenotype, and the data that are available to guide treatment decisions. If you have just received a diagnosis of Klinefelter’s Syndrome for your child or unborn baby you will find help and information in … July 21, 2020. Advances in the interdisciplinary care of children with Klinefelter syndrome [2016] {Related topics} Guidelines. Symptoms in KS are highly variable. Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. As its clinical presentation may be subtle, many of those affected may be unaware or diagnosed only during evaluation for hypogonadism and/or infertility. Trust your parental instincts and accept the early diagnosis as a gift, as you have the key to unlocking many of the ways … This case illustrates an underrecognized pitfall in the diagnosis of hypergonadotropic hypogonadism. Boys with Klinefelter Syndrome are born with an extra sex chromosome in their cells. Klinefelter syndrome is a congenital condition in which males are born with one or more extra X chromosomes. Klinefelter syndrome is a common but underdiagnosed genetic condition with significant phenotypic variability in childhood. This may include examining the genital area and chest, performing tests to check reflexes, and assessing development and functioning. 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. But most people with Klinefelter syndrome don’t know they have it and have never received treatment. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Clinical features suggestive of KS are listed in Table 1, and clinical suspicion should be raised whenever two or more of these features are present. Considering the potentially higher risk among men with Klinefelter syndrome the general guidelines for the prevention of lung cancer are especially important : No smoking. At this time, the booklet can only be purchase by mail from: PRINIT PRESS; 211 Northwest Seventh Street; Richmond, Indiana 47374; or call:1-800-478-4885 Europe PMC is an archive of life sciences journal literature. Boys normally have one X and one Y chromosome, but most boys with Klinefelter syndrome have two X and one Y chromosome. It is relatively common, occurring in about 1 of every 500 baby boys. There is a wide range findings in this condition, and many cases are not diagnosed until adulthood. Some may have slightly weaker muscles, meaning they might sit up, crawl, and walk sli… Boys may have undescended testicles, and the penis may be smaller than average. The American Association for Klinefelter Syndrome Information and Support (AAKSIS) is a national volunteer association with the mission of education, support, research, and understanding of 47 XXY and its variants, collectively known as Klinefelter syndrome. Nearly 70 years after its description, Klinefelter syndrome (KS) remains a largely undiagnosed condition. It is a genetic condition in which males are born with one or more extra X chromosomes. Recognition and treatment of Klinefelter syndrome is important for prevention or treatment of its consequences, such as micropenis, learning disabilities, delayed puberty, infertility, and osteoporosis. Also neurocognitive and psychosocial manifestations can be seen as well Many physical symptoms of KS result from low testosterone levels in the body. Advances in Pediatrics. Klinefelter syndrome (KS) is a frequent male genetic disorder (incidence 1:1000 ~ 2:1000) provoked by a supernumerary X-chromosome and thus a 47,XXY karyotype. The increased prevalence of T2DM seen in men with KS … Avoidance of passive smoking . The primary features are infertility and small poorly functioning testicles. Understanding the genetic and hormonal causes of this syndrome can allow physicians to treat each patient on a more individualized basis. Typically, a male has one X and one Y chromosome. The main tests used to Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. An early detection program for lung cancer does not exist. Klinefelter syndrome can present as a wide spectrum of clinical manifestations at various stages in life, making it a chromosomal disorder with no standardized set of guidelines for appropriate management. KS can be diagnosed at any age. Truncal adiposity, metabolic syndrome and low bone mass occur frequently. The main aim of this meeting was to discuss sev-eral aspects related to the pathogenesis and evaluation of KS and to develop a consensus defining its early di-agnosis and treatment. The most common reason for suspecting that a boy may have Klinefelter syndrome is when a doctor notices that in late puberty, the testicles are much smaller than what is normal. The epidemiology, pathogenesis, clinical features, diagnosis, and management of Klinefelter syndrome … If you are an adult diagnosed with Klinefelter’s Syndrome, please visit our adult area for information and advice about how Klinefelter’s Syndrome could affect you. Statements on AETIOLOGY AND PREVALENCE. Obesity and Hyperglycemia in Korean Men with Klinefelter Syndrome: The Korean Endocrine Society Registry [2016] United States of America. Klinefelter syndrome is a group of conditions affecting the health of males who are born with at least one extra X chromosome. No firm guidelines for the diagnosis exist, but most agree that the cardinal stigmata include small testes in virtually all KS, hypergonadotropic hypogonadism, gynecomastia, learning difficulties, and infertility. The most common reason for suspecting that a boy may have Klinefelter syndrome is when a doctor notices that in late puberty, the testicles are much smaller than what is normal. Hypogonadism and testicular degeneration are almost universal. Nevertheless, frequent characteristics are small testes, azoospermia and hypergonadotropic hypogonadism. Klinefelter syndrome (KS) is the most frequent sex chromosomal anomaly in males, described by a karyotype with one or more extra X Chromosome (most frequently 47,XXY) in men. Data indicate the incidence of KS to be as high as 1/660 of newborns (2, 3).
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