Klinefelter Syndrome … Normally, men have a single X and single Y chromosome. We report here for the first time the kinetic evolution of gonadotropin and testis hormone levels in infants with prenatally diagnosed nonmosaic Klinefelter syndrome. 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] This booklet offers information for expectant parents first learning about Klinefelter syndrome or 47,XXY, which is a chromosome condition. Klinefelter Syndrome … Testosterone can be given in a number of ways but is usually given by gel, which is rubbed onto the skin every day, or by injection. Some aspects of the hormonal abnormalities of Klinefelter's syndrome have been studied in nineteen patients. Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. These hormones play an important role in the normal functioning of reproductive as well as sexual organs of the body. Please enable it to take advantage of the complete set of features! The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS) referred to the endocrinologist at different ages. Symptoms are often not noticed until adolescence or adulthood. The main tests used to diagnose Klinefelter syndrome are: Hormone testing. The diagnosis of Klinefelter’s syndrome is confirmed by chromosomal analysis (karyotyping), which involves a blood test. Many boys with Klinefelter syndrome show symptoms related to their development of social and language skills. These check hormone levels in your blood or urine. Klinefelter syndrome is a genetically determined primary gonadal defect characterized by the XXY karyotype. Horm Res. Fertility problems are common in men with Klinefelter’s syndrome. This booklet offers information for expectant parents first learning about Klinefelter syndrome or 47,XXY, which is a chromosome condition. In addition, some men with Klinefelter’s syndrome may benefit from specialised fertility treatment to increase their chance of having children. The majority of men with Klinefelter’s syndrome lead an independent life, forming relationships and getting a normal job and have a normal life span. A study of the endocrine manifestations of hepatic cirrhosis. Speech and behavioural therapy can help with speech difficulties, developing language skills, confidence issues and academic problems. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The condition is typically characterised by tall stature, reduced fertility and development of breast tissue, although some patients have no clinical features other than reduced or absent sperm count. Less common side-effects include headache, mood change, nausea, jaundice, increased red blood cells, high blood pressure and fluid retention. It is suggested that the threshold for suppression of LH and FSH is increased in hypergonadotrophic states. Testosterone replacement will not improve fertility. 2 It is especially helpful to begin treatment by early puberty. Diagnosis of KS and prevention and treatment of its comorbidities keep being a challenge. | Middle school–age boys with Klinefelter syndrome often will have elevated follicle-stimulating and luteinizing hormone levels and low plasma testosterone levels. Low levels of gonadotropins in karyotypically proven cases are not expected, they are extremely rare occurrences. Humans have 23 pairs of chromosomes (total 46 chromosomes), which are inherited from both parents. Klinefelter's Syndrome Association UK may be able to provide advice and support to patients and their families. If testosterone replacement therapy is given by topical gel, this can sometimes lead to irritation of the skin at the site of application. If patients have any concerns, they should discuss them with their doctor. pathophysiology male child is born with an extra, inactivated X chromosome . Karyotyping can also be performed during pregnancy by analysing the fluid surrounding the fetus (amniocentesis) or by obtaining placental tissue (chorionic villus sampling). Not all individuals with this condition have the same symptoms or to the same degree; because of this variability, cases often remain undiagnosed. due to ↑ expression of aromatase ; Differential: Double Y … Genetically determined male infertility and assisted reproduction techniques. Overview of Klinefelter Syndrome, 47,XXY. Das C, Sahana PK, Sengupta N, Roy M, Dasgupta R. Indian J Endocrinol Metab. If testosterone levels are below the normal range, testosterone replacement therapy (TRT) is typically prescribed. It is based on an X-chromosomal polysomy, with X-disomy being the most com-mon type of Klinefelter (47, XXY) (Jacobs & Strong, 1959; Linden, Bender, & Robinson, 1995). Chromosome analysis. 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. 2008;17(2):27-30. doi: 10.1297/cpe.17.27. … Radioligand assay in reproductive biology. Sperm formation may be decreased … 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. 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. Klinefelter Syndrome: A Guide for Families What is Klinefelter Syndrome? It is also a guide to available treatments for some of these problems. If KS is suspected, a GP should arrange blood tests to check the levels of gonadotrophins (lutenising Hormone (LH) and follicle Stimulating Hormone (FSH)) and Testosterone in the blood. There is, however, substantial variation in clinical presentation among individuals, and many cases remain undiagnosed. is an important sign for Klinefelter syndrome. This is done as an outpatient. However, most men with Klinefelter’s syndrome may have a normal sex life, especially when given appropriate treatment. Individuals with this condition tend to present as tall, phenotypic men with small testes, decreased body hair, gynecomastia, and infertility. Katsushima Y, Katsushima F, Katsushima N. Clin Pediatr Endocrinol. 1974 Dec;77(4):765-83. doi: 10.1530/acta.0.0770765. Learn more about Klinefelter syndrome, including how it affects men's hormone health and what treatment options are available. It also helps to improve self-esteem, mood and maintain bone health. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%). 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 but it is not inherited from the parents. A blood test is also carried out to look at levels of testosterone, luteinizing hormone (LH) and follicle stimulating hormone (FSH). In the same patients the diurnal rhythm of serum testosterone (T) was investigated (morning values vs. evening values). A serum FSH . Radicioni AF, Ferlin A, Balercia G, Pasquali D, Vignozzi L, Maggi M, Foresta C, Lenzi A. J Endocrinol Invest. Santi D, De Vincentis S, Scaltriti S, Rochira V. Endocrine. At the time of puberty, blood levels of the pituitary hormones follicle-stimulating hormone (called FSH) The production rates of oestradiol and the binding capacities of the sex steroid binding globulin were normal. 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 People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. In these cases, surgery may be offered to restore normal male appearances. 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. 2019 May;64(2):209-219. doi: 10.1007/s12020-019-01850-y. From the time of puberty, most affected boys fail to make as much testosterone as unaffected boys. A blood sample is sent to the lab to check the shape and number of chromosomes. Testosterone replacement will not improve fertility. 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). Chromatin-positive Klinefelter's syndrome with undetectable peripheral FSH levels. Following 200 μg thyrotrophin releasing hormone, an enhanced prolactin response was seen in the males with Klinefelter's syndrome. 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. Chromosome analysis. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). Hormone replacement therapy (HRT) or testosterone replacement therapy is useful to help those with Klinefelter Syndrome or XXY. How is Klinefelter syndrome diagnosed? The diagnosis of Klinefelter’s syndrome is confirmed by chromosomal analysis (karyotyping), which involves a blood test. 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). About 1 of every 650 live male births has an extra X chromosome, but many do not have any symptoms. All people with Klinefelter’s syndrome should therefore have regular check-ups during adult life, ideally in a specialist endocrinology clinic, both to monitor their general health and particularly to monitor testosterone replacement therapy. 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. The greater the number of cells containing an extra X chromosome, the more likely it is to lead to features of Klinefelter’s syndrome. The dose is adjusted to maintain appropriate testosterone concentrations. J … Testosterone replacement therapy helps to improve testosterone levels in order to aid muscle development, facial and body hair growth, and sex drive. Klinefelters syndrome; Klinefelter syndrome; 47 XXY syndrome; XXY syndrome; XXY trisomy. 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. Overview of Klinefelter Syndrome, 47,XXY. Men with Klinefelter syndrome also have small testicles and are often infertile because they are unable to produce functioning sperm cells. Clipboard, Search History, and several other advanced features are temporarily unavailable. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. The effect of oestrogen administration on plasma testosterone, FSH and LH levels in patients with Klinefelter's syndrome and normal men. 2000 Nov;23(10):697-710. doi: 10.1007/BF03343796. It is important that these interventions are implemented as early as possible during childhood. 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. This is vitally important to make sure our bones are healthy and that we aren’t developing early-onset osteoporosis or low bone density. Klinefelter syndrome is a condition present at birth that affects about one in 500 to 1,000 men, according to Drugs.com 5. Variants of … 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. The syndrome is diagnosed by a special genetic blood test called a karyotype or chromosome analysis that shows the presence of an extra X chromosome. From early school age, boys with Klinefelter’s syndrome tend to be taller (increased leg length) because testosterone normally stops boys growing after puberty. This is usually carried out as an outpatient. Importantly, up to 3% of infertile men have Klinefelter’s syndrome and many cases go undiagnosed. 3,25 Klinefelter syndrome is one of the most common chromosomal disorders, affecting 1/500 to 1/1,000 newborn males. Relative hyperestrogenism in Klinefelter Syndrome: results from a meta-analysis. The primary effects of Klinefelter’s Syndrome (KS) are low testosterone and infertility. 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. 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. | Does a positive oestrogen feedback on the hypothalamic-pituitary axis exist concurrently with a defective testosterone feedback in Klinefelter's syndrome? 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. There were fluctuations in the blood levels of LH, FSH, testosterone and oestradiol, but these appeared to be less marked than in healthy men. Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. Treatment of Klinefelter Syndrome It’s never too late to treat Klinefelter, but the earlier you start, the better. Early identification of affected individuals is therefore helpful. The Klinefelter’s Syndrome Association (KSA) is working to raise the profile of the condition generally, but within the medical profession in particular. These check hormone levels in your blood or urine. Semin Nucl Med. This may be accompanied by somewhat less secondary sex characteristics, including decreased body hair or decreased muscle development. 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). Both these procedures carry some risk and are performed as an inpatient. An 18 year old phenotypic man is described with chromatin-positive Klinefelter's syndrome and undetectable peripheral human follicle stimulating hormone levels. Klinefelter syndrome is associated with decreased levels of testosterone and is the most common cause of congenital hypogonadism. If given by intramuscular injection, this can rarely cause pain and swelling at the site of the injection. A blood sample is sent to the lab to check the shape and number of chromosomes. Middle school–age boys with Klinefelter syndrome often will have elevated follicle-stimulating and luteinizing hormone levels and low plasma testosterone levels. Klinefelter syndrome is associated with decreased levels of testosterone and is the most common cause of congenital hypogonadism. | LH is needed for the cells in the testes to make testosterone. Chromosomes are packages of genes found in every cell in the body. 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. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. 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. 1998 Sep;50(3):160-5. doi: 10.1159/000023266. They may have trouble paying attention. 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. J Endocrinol Invest. 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. It is estimated that only 25% of KS males are ever diagnosed due to variable phenotype and possibly insufficient characterisation of the syndrome. They may also have trouble with social interactions throughout life, but particularly in childhood. 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. Unusual presentation of Klinefelter syndrome. Testosterone replacement therapy is important where levels are low, and may be required from the start of puberty. 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 syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. In individuals with Klinefelter’s syndrome who have developed breast enlargement, this sometimes becomes permanent. HHS Patients with Klinefelter’s syndrome may have reduced coordination compared with other boys. 2 Hormones and Me Klinefelter Syndrome This booklet, Klinefelter Syndrome introduces a genetic condition which affects some boys, and its features from infancy to adulthood. 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). One pair is the sex chromosomes, which determine gender – boys usually have an X and a Y chromosome (XY), whereas girls have two X chromosomes (XX). hormone (LH) levels, on the other hand, is lesser. 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). Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. 2010 Dec;33(11):839-50. doi: 10.1007/BF03350351. Although early in puberty, the testicles may produce normal amounts of the male hormone testosterone, this often lags as puberty progresses. Chromosome analysis. Klinefelter syndrome, 47,XXY (KS), occurs in about 150 per 100,000 males and is the most frequent chromosomal aberration in males. Patient factsheet: SfE position statement on male hypogonadism and ageing. Klinefelter syndrome, 47,XXY (KS), occurs in about 150 per 100,000 males and is the most frequent chromosomal aberration in males. In Klinefelter syndrome, men have more than one X chromosome 5. level higher than normal range with very low levels of testosterone . Klinefelter’s syndrome is named after Dr Harry Klinefelter, who first described a collection of symptoms present in men with an extra X chromosome; therefore, it is sometimes called 47 XXY (47 refers to the total number of chromosomes in this condition). doi: 10.4103/2230-8210.123567. Men with Klinefelter’s syndrome may develop breast enlargement (gynaecomastia) and thinning of the bones (osteoporosis). generally only recommended in prepubertal or pubertal boys, or men with clinical signs of Klinefelter syndrome who are seeking fertility treatment; Serum hormone levels ↑ FSH and LH ↓ testosterone ↑ estradiol . In adult patients, serum inhibin B and anti-Mullerian-hormone (AMH) are undetectable, testosterone secretion is often impaired, and the tubules are depleted of germ cells. Care must be taken when given to anyone with prostate problems. These are named either X or Y. Hormone testing. 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. 1975 Jul;5(3):263-72. doi: 10.1016/s0001-2998(75)80014-6. It is one of the most common chromosome abnormalities in men. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. NIH Chromosomes carry our genetic information. It is relatively common, occurring in about 1 of every 500 baby boys. 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. 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). Problems With Klinefelter Syndrome: Klinefelter Syndrome lead to a decrease in levels of testosterone hormones. Plasma oestradiol, LH and FSH leve … Many boys with Klinefelter syndrome show symptoms related to their development of social and language skills. Consensus statement on diagnosis and clinical management of Klinefelter syndrome. Replacement therapy should not begin before puberty unless the teenager never gets into puberty on their own. The most frequent clinical findings were cryptorch… Our LH (Luteinizing Hormone) and FSH (Follicle Stimulating Hormone) levels have typically increased above the normal range. Individuals with this condition tend to present as tall, phenotypic men with small testes, decreased body hair, gynecomastia, and infertility. 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. Testosterone replacement is generally well-tolerated. Symptoms are often not noticed until adolescence or adulthood. Hormone treatments have helped most to complete puberty and maintain hormone levels for good health. In the same patients the diurnal rhythm … 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. 2. 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). Get the latest public health information from CDC: https://www.coronavirus.gov, Get the latest research information from NIH: https://www.nih.gov/coronavirus, Find NCBI SARS-CoV-2 literature, sequence, and clinical content: https://www.ncbi.nlm.nih.gov/sars-cov-2/. Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. Klinefelter’s syndrome is a genetic disorder whereby a boy is born with one or more extra X chromosomes. 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