There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. A study of the endocrine manifestations of hepatic cirrhosis. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. The range of testosterone, LH, and FSH varies depending on the age of the individual. The Klinefelter’s Syndrome Association (KSA) is working to raise the profile of the condition generally, but within the medical profession in particular. It is relatively common, occurring in about 1 of every 500 baby boys. Patients with Klinefelter’s syndrome may have reduced coordination compared with other boys. Klinefelter syndrome is one of the most common chromosomal disorders, affecting 1/500 to 1/1,000 newborn males. It's important to remember that because symptoms can be mild, many males with KS are never diagnosed ore treated. Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. Rabinowitz D, Cohen MM, Rosenmann E, Rosenmann A, Segal S, Bell J, Rosler A, Spitz I. It is suggested that the threshold for suppression of LH and FSH is increased in hypergonadotrophic states. 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. The production rates of oestradiol and the binding capacities of the sex steroid binding globulin were normal. Acta Endocrinol (Copenh). 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. 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 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. Evaluation of the reproductive axis hormone levels was available during followup in 13 prepubertal and 28 pubertal patients with Klinefelter’s syndrome (Figure 2). Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. L'individu est alors de caractère masculin, mais infertile.Sa formule chromosomique s'écrit «47,XXY ». Another variation is that not all cells in the affected individual have an extra X chromosome; this is known as mosaicism. Normally, men have a single X and single Y chromosome. 1975 Jul;5(3):263-72. doi: 10.1016/s0001-2998(75)80014-6. 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). Are there patient support groups for people with Klinefelter's syndrome? Patricia Jacobs determined in 1959 These hormones play an important role in the normal functioning of reproductive as well as sexual organs of the body. In patients with Klinefelter’s syndrome, blood tests characteristically show a low testosterone level, high sex hormone binding globulin (SHBG) and raised gonadotrophins. 2. Das C, Sahana PK, Sengupta N, Roy M, Dasgupta R. Indian J Endocrinol Metab. Consensus statement on diagnosis and clinical management of Klinefelter syndrome. Chromosome analysis. Symptoms are often not noticed until adolescence or adulthood. Fertility problems are common in men with Klinefelter’s syndrome. 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. Our LH (Luteinizing Hormone) and FSH (Follicle Stimulating Hormone) levels have typically increased above the normal range. J Endocrinol Invest. Early identification of affected individuals is therefore helpful. 2019 May;64(2):209-219. doi: 10.1007/s12020-019-01850-y. Recent Prog Horm Res. The extra one or more X chromosomes in Klinefelter’s syndrome may cause a number of features including tall stature, reduced fertility, development of breast tissue gynaecomastia) and problems with language and social interactions. Problems With Klinefelter Syndrome: Klinefelter Syndrome lead to a decrease in levels of testosterone hormones. The extra X chromosome can come from either the mother or the father. Semin Nucl Med. 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. Men with Klinefelter syndrome have lower levels of male hormones and higher levels of estrogen. 3,25 Many boys with Klinefelter syndrome show symptoms related to their development of social and language skills. Does a positive oestrogen feedback on the hypothalamic-pituitary axis exist concurrently with a defective testosterone feedback in Klinefelter's syndrome? 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). Most of the patients (83.7%) showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Genetically determined male infertility and assisted reproduction techniques. Klinefelter syndrome, 47,XXY (KS), occurs in about 150 per 100,000 males and is the most frequent chromosomal aberration in males. 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). 2 It is especially helpful to begin treatment by early puberty. Testosterone replacement therapy is important where levels are low, and may be required from the start of puberty. Klinefelter syndrome is associated with decreased levels of testosterone and is the most common cause of congenital hypogonadism. 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). A blood test is also carried out to look at levels of testosterone, luteinizing hormone (LH) and follicle stimulating hormone (FSH). It also helps to improve self-esteem, mood and maintain bone health. In these cases, surgery may be offered to restore normal male appearances. Klinefelter’s syndrome only affects men. Many boys with Klinefelter syndrome show symptoms related to their development of social and language skills. Relative hyperestrogenism in Klinefelter Syndrome: results from a meta-analysis. 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). 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. 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. 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. Testosterone replacement will not improve fertility. 1974 Dec;77(4):765-83. doi: 10.1530/acta.0.0770765. 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). Fifteen patients with Klinefelter's syndrome, aged between 17 and 43 years, and 15 healthy males, aged 22–35 years, were studied. Please enable it to take advantage of the complete set of features! 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. A blood sample is sent to the lab to check the shape and number of chromosomes.  |  These are named either X or Y. Klinefelter syndrome is a genetically determined primary gonadal defect characterized by the XXY karyotype. A serum FSH . 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). How is Klinefelter syndrome diagnosed? Epub 2008 May 8. This booklet offers information for expectant parents first learning about Klinefelter syndrome or 47,XXY, which is a chromosome condition. Klinefelters syndrome; Klinefelter syndrome; 47 XXY syndrome; XXY syndrome; XXY trisomy. Not all individuals with this condition have the same symptoms or to the same degree; because of this variability, cases often remain undiagnosed. The main tests used to diagnose Klinefelter syndrome are: Hormone testing. Middle school–age boys with Klinefelter syndrome often will have elevated follicle-stimulating and luteinizing hormone levels and low plasma testosterone levels. 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/. USA.gov. 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 . Clipboard, Search History, and several other advanced features are temporarily unavailable. 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. Following 200 μg thyrotrophin releasing hormone, an enhanced prolactin response was seen in the males with Klinefelter's syndrome. 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? A blood sample is sent to the lab to check the shape and number of chromosomes. 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). Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. This is usually carried out as an outpatient. … Klinefelter’s syndrome is a genetic condition but it is not inherited from the parents. In patients with Klinefelter’s syndrome, blood tests characteristically show a low testosterone level, high sex hormone binding globulin (SHBG) and raised gonadotrophins. It is also a guide to available treatments for some of these problems. 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. pathophysiology male child is born with an extra, inactivated X chromosome . In the same patients the diurnal rhythm of serum testosterone (T) was investigated (morning values vs. evening values). 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. Klinefelter syndrome (KS) is the most common genetic form of male hypogonadism, but overt phenotype becomes evident only after puberty. Importantly, up to 3% of infertile men have Klinefelter’s syndrome and many cases go undiagnosed. Klinefelter syndrome, 47,XXY (KS), occurs in about 150 per 100,000 males and is the most frequent chromosomal aberration in males. This is usually carried out as an outpatient. Unusual presentation of Klinefelter syndrome. In pubertal patients, FSH and LH increased above the normal at 12.8 yr and 13.8 yr, respectively. NIH Patient factsheet: SfE position statement on male hypogonadism and ageing. Diagnosis of KS and prevention and treatment of its comorbidities keep being a challenge. 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 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. Santi D, De Vincentis S, Scaltriti S, Rochira V. Endocrine. Boys normally have one X and one Y chromosome, but most boys with Klinefelter syndrome have two X and one Y chromosome. 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. 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 diagnosis of Klinefelter’s syndrome is confirmed by chromosomal analysis (karyotyping), which involves a blood test. 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. 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. 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). Paulsen CA, Gordon DL, Carpenter RW, Gandy HM, Drucker WD. Klinefelter syndrome is a genetic disease that causes males to be born with an extra copy of the X chromosome in their cells. Testosterone replacement is generally well-tolerated. 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. 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] It is important that these interventions are implemented as early as possible during childhood. Most boys with Klinefelter syndrome are tall and have relatively long arms and legs. 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. “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. 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. HHS This is done as an outpatient. 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. 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). Radicioni AF, Ferlin A, Balercia G, Pasquali D, Vignozzi L, Maggi M, Foresta C, Lenzi A. J Endocrinol Invest. Speech and behavioural therapy can help with speech difficulties, developing language skills, confidence issues and academic problems. Epub 2019 Jan 30. Symptoms are often not noticed until adolescence or adulthood. Klinefelter Syndrome … The frequency of various symptoms and signs of KS is summarized in Table 2. Humans have 23 pairs of chromosomes (total 46 chromosomes), which are inherited from both parents. The medication is necessary to bring our low testosterone level to its proper level. Consistent with previous observations in adolescent and adult Klinefelter subjects, testosterone levels in the neonatal period were lower than in normal infants. 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). 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). 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 (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. These check hormone levels in your blood or urine. Chromosomes carry our genetic information. Low levels of gonadotropins in karyotypically proven cases are not expected, they are extremely rare occurrences. Klinefelter Syndrome … Middle school–age boys with Klinefelter syndrome often will have elevated follicle-stimulating and luteinizing hormone levels and low plasma testosterone levels. This increase in height is maintained throughout life. 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. There is, however, substantial variation in clinical presentation among individuals, and many cases remain undiagnosed. This site needs JavaScript to work properly.  |  CONTEXT: Klinefelter syndrome (KS) is the most common sex chromosome disorder and a major cause of male infertility. Men with Klinefelter syndrome also have small testicles and are often infertile because they are unable to produce functioning sperm cells. In the vast majority of boys, there are no other affected family members; it occurs sporadically. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Testosterone replacement therapy helps to improve testosterone levels in order to aid muscle development, facial and body hair growth, and sex drive. 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. NLM Men with Klinefelter syndrome have cells with a Y chromosome plus at least two X chromosomes (but sometimes more). Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error. J … If testosterone levels are below the normal range, testosterone replacement therapy (TRT) is typically prescribed. Hormone replacement therapy (HRT) or testosterone replacement therapy is useful to help those with Klinefelter Syndrome or XXY. is an important sign for Klinefelter syndrome. due to ↑ expression of aromatase ; Differential: Double Y … Low levels of gonadotropins in karyotypically proven cases are not expected, they are extremely rare occurrences. Some aspects of the hormonal abnormalities of Klinefelter's syndrome have been studied in nineteen patients. 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). 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). L'individu présente alors deux chromosomes X et un chromosome Y, soit 47 chromosomes au lieu de 46. 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. In the same patients the diurnal rhythm … Klinefelter's syndrome and its variants: a hormonal and chromosomal study. Karyotyping can also be performed during pregnancy by analysing the fluid surrounding the fetus (amniocentesis) or by obtaining placental tissue (chorionic villus sampling). This may be accompanied by somewhat less secondary sex characteristics, including decreased body hair or decreased muscle development. Individuals with this condition tend to present as tall, phenotypic men with small testes, decreased body hair, gynecomastia, and infertility. Physical and occupational therapy may be helpful in affected boys with coordination and muscle problems. 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. Treatment will differ among individuals depending on their age at diagnosis and level of symptoms experienced. Overview of Klinefelter Syndrome, 47,XXY. 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. It is one of the most common chromosome abnormalities in men. 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. Is Klinefelter syndrome also have trouble with social interactions throughout life, especially when given to anyone prostate. 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