The Klinefelter’s Syndrome Association (KSA) is working to raise the profile of the condition generally, but within the medical profession in particular. In individuals with Klinefelter’s syndrome who have developed breast enlargement, this sometimes becomes permanent. Men with Klinefelter’s syndrome may develop breast enlargement (gynaecomastia) and thinning of the bones (osteoporosis). Men with Klinefelter syndrome also have small testicles and are often infertile because they are unable to produce functioning sperm cells. 2010 Dec;33(11):839-50. doi: 10.1007/BF03350351. Das C, Sahana PK, Sengupta N, Roy M, Dasgupta R. Indian J Endocrinol Metab. not dissimilar to people with dyslexia. doi: 10.4103/2230-8210.123567. The underlying chromosomal problem (XXY) cannot be changed, so the aim of treatment is to help with symptoms and prevent complications in the long-term. From early school age, boys with Klinefelter’s syndrome tend to be taller (increased leg length) because testosterone  normally stops boys growing after puberty. Klinefelter syndrome is a genetic disease that causes males to be born with an extra copy of the X chromosome in their cells. hey guys i just found out i might have this klinefelter syndrome thing so i cant help but wonder do i have to take a karotyping test or can i just take a hormone test to check my hormones and if there good the odds of me having this condition isn't to good right? Are there patient support groups for people with Klinefelter's syndrome? Klinefelter's syndrome is a genetic condition affecting boys and men that occurs as a result of the presence of one or more extra X chromosomes. About 1 of every 650 live male births has an extra X chromosome, but many do not have any symptoms. This occurs as a result of a problem in the way cells divide either before or after conception. A web-based project by the Society for Endocrinology that aims to give patients and the general public access to reliable online information on endocrine science. Rabinowitz D, Cohen MM, Rosenmann E, Rosenmann A, Segal S, Bell J, Rosler A, Spitz I. Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. It is suggested that the threshold for suppression of LH and FSH is increased in hypergonadotrophic states. Sperm formation may be decreased … Man applying a skin cream containing testosterone used to replace this sex hormone in men who have lost their sex drive, or had their testes removed due to cancer or other diseases. J … Klinefelter's Syndrome Association UK may be able to provide advice and support to patients and their families. Learn more about Klinefelter syndrome, including how it affects men's hormone health and what treatment options are available. Klinefelter syndrome is a sex chromosome disorder that is a common underlying cause of hypogonadism in men; Epidemiology incidence 1 to 2.5 per 1000 men only 25-50% of Klinefelter syndrome patients are diagnosed during their lifetimes; risk factors. 1968;24:321-63. doi: 10.1016/b978-1-4831-9827-9.50013-7. Klinefelter Syndrome … If patients have any concerns, they should discuss them with their doctor. Klinefelter Syndrome … In the same patients the diurnal rhythm … 1998 Sep;50(3):160-5. doi: 10.1159/000023266. When puberty starts and guys' bodies begin to make sex hormones, boys with Klinefelter usually don't produce as much of the male hormone testosterone. Relative hyperestrogenism in Klinefelter Syndrome: results from a meta-analysis. hormone (LH) levels, on the other hand, is lesser. In 1959, these men with Klinefelter syndrome were discovered to have an extra X chromosome (genotype XXY) instead of the usual male sex complement (genotype XY). We report here for the first time the kinetic evolution of gonadotropin and testis hormone levels in infants with prenatally diagnosed nonmosaic Klinefelter syndrome. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%). Adults with Klinefelter’s syndrome are more likely to have a number of health issues such as osteoporosis; obesity; varicose veins and leg ulcers; development of autoimmune conditions (diabetes mellitus, systemic lupus erythematosus and thyroid problems); chest conditions (bronchitis and emphysema); and there may be an increase in some cancers (breast cancer, germ cell tumours, non-Hodgkin’s lymphoma). In addition, some men with Klinefelter’s syndrome may benefit from specialised fertility treatment to increase their chance of having children. Testosterone replacement is generally well-tolerated. A small percentage of males with Klinefelter syndrome are diagnosed before birth. Paulsen CA, Gordon DL, Carpenter RW, Gandy HM, Drucker WD. Klinefelter syndrome is associated with decreased levels of testosterone and is the most common cause of congenital hypogonadism. Klinefelter syndrome: an argument for early aggressive hormonal and fertility management Akanksha Mehta, M.D., and Darius A. Paduch, M.D., Ph.D. Department of Urology, Weill Cornell Medical College, New York, New York Objective: To investigate the impact of early hormone replacement therapy (HT) on sperm retrieval rates in patients with Klinefelter Treatment will differ among individuals depending on their age at diagnosis and level of symptoms experienced. Many boys with Klinefelter syndrome show symptoms related to their development of social and language skills. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. Chromosome analysis. Symptoms depend on the proportion of cells in the body that contain an extra X chromosome (XXY), how much testosterone is being produced and the age at diagnosis. They may have trouble paying attention. J Endocrinol Invest. Recent Prog Horm Res. If testosterone replacement therapy is given by topical gel, this can sometimes lead to irritation of the skin at the site of application. These hormones play an important role in the normal functioning of reproductive as well as sexual organs of the body. Klinefelter Syndrome: A Guide for Families What is Klinefelter Syndrome? FSH, LH, testosterone, inhibin B, and AMH levels were normal in all prepubertal boys. Symptoms are often not noticed until adolescence or adulthood. Klinefelter syndrome is usually characterised by the presence of a eunuchoid body habitus and testes that are usually small and firm, with low testosterone, and elevated luteinising hormone and follicle-stimulating hormone levels, consistent with hypergonadotropic hypogonadism. Evaluation of the reproductive axis hormone levels was available during followup in 13 prepubertal and 28 pubertal patients with Klinefelter’s syndrome (Figure 2). These check hormone levels in your blood or urine. Klinefelter syndrome: an argument for early aggressive hormonal and fertility management Akanksha Mehta, M.D., and Darius A. Paduch, M.D., Ph.D. Department of Urology, Weill Cornell Medical College, New York, New York Objective: To investigate the impact of early hormone replacement therapy (HT) on sperm retrieval rates in patients with Klinefelter syndrome (KS). Klinefelter’s syndrome is caused by men having an extra one or more X chromosomes. L'individu présente alors deux chromosomes X et un chromosome Y, soit 47 chromosomes au lieu de 46. It is also a guide to available treatments for some of these problems. Genetically determined male infertility and assisted reproduction techniques. Chromosomes are packages of genes found in every cell in the body. While on testosterone replacement therapy, a blood test is performed at least annually to check testosterone levels, blood count and also the health of the prostate (in men over 50 years of age). Overview of Klinefelter Syndrome, 47,XXY. The primary effects of Klinefelter’s Syndrome (KS) are low testosterone and infertility. In 1942, Klinefelter et al published a report on 9 men who had enlarged breasts, sparse facial and body hair, small testes, and an inability to produce sperm. This booklet offers information for expectant parents first learning about Klinefelter syndrome or 47,XXY, which is a chromosome condition. HHS The diagnosis of Klinefelter’s syndrome is confirmed by chromosomal analysis (karyotyping), which involves a blood test. In 1959, these men with Klinefelter syndrome were discovered to have an extra X chromosome (genotype XXY) instead of the usual male sex complement (genotype XY). Klinefelter's syndrome: Men with Klinefelter's syndrome (a sex chromosome disorder characterized by low levels of male hormones, sterility, breast enlargement, and small testes [medstargeorgetown.org] These check hormone levels in your blood or urine. 1975 Jul;5(3):263-72. doi: 10.1016/s0001-2998(75)80014-6. Klinefelter syndrome (KS) is the most common genetic form of male hypogonadism, but overt phenotype becomes evident only after puberty. In these cases, surgery may be offered to restore normal male appearances. Treatment of Klinefelter Syndrome It’s never too late to treat Klinefelter, but the earlier you start, the better. Low hormone levels and problems with sperm production make it difficult or sometimes impossible for a boy with Klinefelter syndrome to father a child later in life. Our LH (Luteinizing Hormone) and FSH (Follicle Stimulating Hormone) levels have typically increased above the normal range. level higher than normal range with very low levels of testosterone . Another variation is that not all cells in the affected individual have an extra X chromosome; this is known as mosaicism. Baker HW, Burger HG, de Kretser DM, Dulmanis A, Hudson B, O'Connor S, Paulsen CA, Purcell N, Rennie GC, Seah CS, Taft HP, Wang C. Smals AG, Kloppenborg PW, Lequin RM, Benraad TJ. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). In pubertal patients, FSH and LH increased above the normal at 12.8 yr and 13.8 yr, respectively. Klinefelter syndrome is a condition present at birth that affects about one in 500 to 1,000 men, according to Drugs.com 5. Klinefelter’s syndrome is a genetic disorder whereby a boy is born with one or more extra X chromosomes. L'individu est alors de caractère masculin, mais infertile.Sa formule chromosomique s'écrit «47,XXY ». advanced maternal age; Pathophysiology . Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. Although no statistically significant relationships were found between the hormonal and clinical abnormalities of the syndrome it is probable that the hyperoestrogenism and androgen deficiency are linked to the development of the signs of feminization and hypogonadism. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. The primary effects of Klinefelter’s Syndrome (KS) are low testosterone and infertility. Boys normally have one X and one Y chromosome, but most boys with Klinefelter syndrome have two X and one Y chromosome. Variants of … Plasma oestradiol, LH and FSH leve … Chromosomes carry all of our genes, and genes give instructions for our bodies to grow and function. This is done as an outpatient. Some aspects of the hormonal abnormalities of Klinefelter's syndrome have been studied in nineteen patients. Plasma oestradiol, LH and FSH levels were elevated and there was increased peripheral conversion of testosterone to oestradiol. Klinefelter syndrome (KS) is one of the most prevalent sex chro-mosomal disorders with an incidence of about 1 to 2 per 1,000 male newborns (Bojesen, Juul, & Gravholt, 2003). Hormonally, the majority of affected men have decreased total testosterone levels, and those with normal total testosterone levels may, in fact have decreased free testosterone, because serum sex hormone-binding globulin (SHBG) levels are elevated in KS (18). CONTEXT: Klinefelter syndrome (KS) is the most common sex chromosome disorder and a major cause of male infertility. 2000 Nov;23(10):697-710. doi: 10.1007/BF03343796. There were fluctuations in the blood levels of LH, FSH, testosterone and oestradiol, but these appeared to be less marked than in healthy men. In the same patients the diurnal rhythm of serum testosterone (T) was investigated (morning values vs. evening values). The most frequent clinical findings were cryptorch… Klinefelter syndrome is a genetically determined primary gonadal defect characterized by the XXY karyotype. Men with Klinefelter syndrome have cells with a Y chromosome plus at least two X chromosomes (but sometimes more). Fertility problems are common in men with Klinefelter’s syndrome. Many KS males are … Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. The hormonal consequences of the Klinefelter karyotype is development of hypergonadotropic hypogonadism with decreased levels of androgens causing a feedback-mediated increased pituitary secretion of follicle stimulating hormone (FSH) and luteinizing hormone causing a relative increase in estrogen levels, resulting in an elevated estrogen to androgen ratio. Klinefelter syndrome is associated with decreased levels of testosterone and is the most common cause of congenital hypogonadism. These are named either X or Y. 3,25 Patients with Klinefelter’s syndrome may have reduced coordination compared with other boys.  |  Klinefelter syndrome is one of the most common chromosome conditions in newborns. Klinefelter syndrome is usually characterised by the presence of a eunuchoid body habitus and testes that are usually small and firm, with low testosterone, and elevated luteinising hormone and follicle-stimulating hormone levels, consistent with hypergonadotropic hypogonadism. Radioligand assay in reproductive biology. Epub 2019 Jan 30. Men with Klinefelter's syndrome have testosterone levels that are significantly lower (−260 ng/dL difference), estradiol levels that are slightly higher (+6.8 pg/mL) though not significantly different when restricted to high-accuracy assays (+5.5 pg/mL difference), and the ratio of estradiol to testosterone is significantly higher (+0.06). Hormone treatments have helped most to complete puberty and maintain hormone levels for good health. Individuals with this condition tend to present as tall, phenotypic men with small testes, decreased body hair, gynecomastia, and infertility. It affects between 1 in 500 and 1 in 1,000 newborn males. It also helps to improve self-esteem, mood and maintain bone health. The frequency of various symptoms and signs of KS is summarized in Table 2. In Klinefelter syndrome, men have more than one X chromosome 5. It is thought that older parents may be more likely to have a child with Klinefelter’s syndrome; this is probably because the risk of chromosomal abnormalities increases with age. If testosterone levels are below the normal range, testosterone replacement therapy (TRT) is typically prescribed. Klinefelter syndrome is one of the most common chromosomal disorders, affecting 1/500 to 1/1,000 newborn males. A study of the endocrine manifestations of hepatic cirrhosis. The usual 47 XXY pattern of Klinefelter’s syndrome accounts for around 80% of cases, however, there are also other variations. This may be accompanied by somewhat less secondary sex characteristics, including decreased body hair or decreased muscle development. The main tests used to diagnose Klinefelter syndrome are: Hormone testing. Mean ± SD basal serum prolactin levels were 529.6±174.6 mU l ‐1 in the patients, and 270.1±113.0 mU l ‐1 in the control group (P<0.001). NIH Some aspects of the hormonal abnormalities of Klinefelter's syndrome have been studied in nineteen patients. Chromosome analysis. However, more recent specialised fertility techniques such as microsurgical testicular sperm extraction and intracytoplasmic sperm injection have helped some men with Klinefelter’s syndrome to father children. Patricia Jacobs determined in 1959 Characteristically, they have small, firm testes with a low or absent sperm count; almost all men who are 47 XXY will be infertile. Unusual presentation of Klinefelter syndrome. In the vast majority of boys, there are no other affected family members; it occurs sporadically. It is one of the most common chromosome abnormalities in men. Basal and gonadotropin-releasing hormone (GnRH)-stimulated levels of biologically active and immunoreactive LH (bLH and iLH) were measured in six patients with Klinefelter's syndrome (KS) (mean age 24.7 years). National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error. Testosterone replacement therapy is important where levels are low, and may be required from the start of puberty. Care must be taken when given to anyone with prostate problems. This site needs JavaScript to work properly. This is usually carried out as an outpatient. Men with Klinefelter’s syndrome are also thought to be at an increased risk of developing chronic health problems such as cardiovascular, respiratory and gastrointestinal disease. A significant proportion of men with Klinefelter’s syndrome have some kind of difficulty with language (problems reading or learning to talk initially) or executive functions (problem solving, task switching, planning, etc.) Where Klinefelter’s syndrome is suspected, blood tests will be carried out to assess levels of testosterone and gonadotrophins (luteinising hormone and follicle stimulating hormone). Treatment of Klinefelter Syndrome It’s never too late to treat Klinefelter, but the earlier you start, the better. … Many boys with Klinefelter syndrome show symptoms related to their development of social and language skills. Klinefelter’s syndrome is a genetic condition but it is not inherited from the parents. This can lead to a taller, less muscular appearance with less facial and body hair, impaired sex drive (libido) and difficulties maintaining erections (potency), and lower energy levels. 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. Le syndrome de Klinefelter ou 47,XXY est une aneuploïdie qui se caractérise chez l'être humain par un chromosome sexuel X supplémentaire. The medication is necessary to bring our low testosterone level to its proper level. 1974 Dec;77(4):765-83. doi: 10.1530/acta.0.0770765. NLM Semin Nucl Med. Middle school–age boys with Klinefelter syndrome often will have elevated follicle-stimulating and luteinizing hormone levels and low plasma testosterone levels. Karyotyping can also be performed during pregnancy by analysing the fluid surrounding the fetus (amniocentesis) or by obtaining placental tissue (chorionic villus sampling). There is, however, substantial variation in clinical presentation among individuals, and many cases remain undiagnosed. Basal and gonadotropin-releasing hormone (GnRH)-stimulated levels of biologically active and immunoreactive LH (bLH and iLH) were measured in six patients with Klinefelter's syndrome (KS) (mean age 24.7 years). Klinefelter's syndrome and its variants: a hormonal and chromosomal study. Men with Klinefelter syndrome have lower levels of male hormones and higher levels of estrogen. A blood sample is sent to the lab to check the shape and number of chromosomes. Klinefelter syndrome, 47,XXY (KS), occurs in about 150 per 100,000 males and is the most frequent chromosomal aberration in males. The diagnosis of Klinefelter’s syndrome is confirmed by chromosomal analysis (karyotyping), which involves a blood test. It's important to remember that because symptoms can be mild, many males with KS are never diagnosed ore treated. Klinefelter syndrome (KS) is one of the most prevalent sex chro-mosomal disorders with an incidence of about 1 to 2 per 1,000 male newborns (Bojesen, Juul, & Gravholt, 2003). Hormone testing: This can be done through blood or urine samples and can detect if abnormal sex hormone levels — a sign of Klinefelter syndrome — are present. “Klinefelter Syndrome” or “Klinefelter’s Syndrome,” sometimes abbreviated as KS, was first described by Dr. Harry Klinefelter in 1942 as an endocrine disorder characterized by small firm testes, hypogonadism, gynecomastia, and increased levels of follicle-stimulating hormone. The extra X chromosome can come from either the mother or the father. Most of the patients (83.7%) showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. due to ↑ expression of aromatase ; Differential: Double Y … As a group the plasma production rate, the total and free levels of testosterone, and the metabolic clearance rates of testosterone and oestradiol were low. The range of testosterone, LH, and FSH varies depending on the age of the individual. 2 It is especially helpful to begin treatment by early puberty. Chromosomes are packages of genes found in every cell in the body. Replacement therapy should not begin before puberty unless the teenager never gets into puberty on their own. This booklet offers information for expectant parents first learning about Klinefelter syndrome or 47,XXY, which is a chromosome condition. Klinefelter syndrome is usually characterised by the presence of a eunuchoid body habitus and testes that are usually small and firm, with low testosterone, and elevated luteinising hormone and follicle-stimulating hormone levels, consistent with hypergonadotropic hypogonadism. This is vitally important to make sure our bones are healthy and that we aren’t developing early-onset osteoporosis or low bone density. That doesn't make a guy less male, but it can affect things like penis and testicle growth, and growth of body hair and muscles. The greater the number of cells containing an extra X chromosome, the more likely it is to lead to features of Klinefelter’s syndrome. It is estimated that only 25% of KS males are ever diagnosed due to variable phenotype and possibly insufficient characterisation of the syndrome. Problems With Klinefelter Syndrome: Klinefelter Syndrome lead to a decrease in levels of testosterone hormones. 2013 Dec;17(Suppl 3):S683-4. 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