People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. The medication is necessary to bring our low testosterone level to its proper level. Boys normally have one X and one Y chromosome, but most boys with Klinefelter syndrome have two X and one Y chromosome. They may have trouble paying attention. Speech and behavioural therapy can help with speech difficulties, developing language skills, confidence issues and academic problems. Humans have 23 pairs of chromosomes (total 46 chromosomes), which are inherited from both parents. At the time of puberty, blood levels of the pituitary hormones follicle-stimulating hormone (called FSH) 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 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). Fifteen patients with Klinefelter's syndrome, aged between 17 and 43 years, and 15 healthy males, aged 22–35 years, were studied. Middle school–age boys with Klinefelter syndrome often will have elevated follicle-stimulating and luteinizing hormone levels and low plasma testosterone levels. 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. Sometimes, more than one extra X chromosome is present resulting in 48 or 49 chromosomes (48 XXXY or 49 XXXXY). Katsushima Y, Katsushima F, Katsushima N. Clin Pediatr Endocrinol. Hormone testing. Most of the patients (83.7%) showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Men with Klinefelter’s syndrome may develop breast enlargement (gynaecomastia) and thinning of the bones (osteoporosis). 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. Santi D, De Vincentis S, Scaltriti S, Rochira V. Endocrine. 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). An 18 year old phenotypic man is described with chromatin-positive Klinefelter's syndrome and undetectable peripheral human follicle stimulating hormone levels. 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. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. The production rates of oestradiol and the binding capacities of the sex steroid binding globulin were normal.  |  J Endocrinol Invest. 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 syndrome is a genetic disease that causes males to be born with an extra copy of the X chromosome in their cells. In the same patients the diurnal rhythm … The extra X chromosome can come from either the mother or the father. This is vitally important to make sure our bones are healthy and that we aren’t developing early-onset osteoporosis or low bone density. USA.gov. National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error. Acta Endocrinol (Copenh). The frequency of various symptoms and signs of KS is summarized in Table 2.  |  It is important that these interventions are implemented as early as possible during childhood. Individuals with this condition tend to present as tall, phenotypic men with small testes, decreased body hair, gynecomastia, and infertility. 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. 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. Problems With Klinefelter Syndrome: Klinefelter Syndrome lead to a decrease in levels of testosterone hormones. Radicioni AF, Ferlin A, Balercia G, Pasquali D, Vignozzi L, Maggi M, Foresta C, Lenzi A. J Endocrinol Invest. Symptoms are often not noticed until adolescence or adulthood. Semin Nucl Med. Importantly, up to 3% of infertile men have Klinefelter’s syndrome and many cases go undiagnosed. Testosterone replacement therapy is important where levels are low, and may be required from the start of puberty. 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. 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. Testosterone and FSH act together on the seminiferous tubules (sperm-producing tubes) in the testes to make sperm. In pubertal patients, FSH and LH increased above the normal at 12.8 yr and 13.8 yr, respectively. FSH, LH, testosterone, inhibin B, and AMH levels were normal in all prepubertal boys. 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). In patients with Klinefelter’s syndrome, blood tests characteristically show a low testosterone level, high sex hormone binding globulin (SHBG) and raised gonadotrophins. 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). How is Klinefelter syndrome diagnosed? Low levels of gonadotropins in karyotypically proven cases are not expected, they are extremely rare occurrences. Testosterone replacement will not improve fertility. These check hormone levels in your blood or urine. Less common side-effects include headache, mood change, nausea, jaundice, increased red blood cells, high blood pressure and fluid retention. From the time of puberty, most affected boys fail to make as much testosterone as unaffected boys. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. 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. Does a positive oestrogen feedback on the hypothalamic-pituitary axis exist concurrently with a defective testosterone feedback in Klinefelter's syndrome? 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). These check hormone levels in your blood or urine. “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. 2. The most frequent clinical findings were cryptorch… 2 It is especially helpful to begin treatment by early puberty. It is also a guide to available treatments for some of these problems. Variants of … Chromosomes carry our genetic information. Lahlou N, Fennoy I, Carel JC, Roger M, 2004 Inhibin B and anti-Mullerian hormone, but not testosterone levels, are normal in infants with nonmosaic Klinefelter syndrome. level higher than normal range with very low levels of testosterone . The dose is adjusted to maintain appropriate testosterone concentrations. Care must be taken when given to anyone with prostate problems. Klinefelter syndrome is one of the most common chromosome conditions in newborns. Klinefelter syndrome, 47,XXY (KS), occurs in about 150 per 100,000 males and is the most frequent chromosomal aberration in males. 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 is associated with decreased levels of testosterone and is the most common cause of congenital hypogonadism. In the same patients the diurnal rhythm of serum testosterone (T) was investigated (morning values vs. evening values). COVID-19 is an emerging, rapidly evolving situation. 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. Epub 2019 Jan 30. Plasma oestradiol, LH and FSH leve … CONTEXT: Klinefelter syndrome (KS) is the most common sex chromosome disorder and a major cause of male infertility. Some aspects of the hormonal abnormalities of Klinefelter's syndrome have been studied in nineteen patients. HHS Klinefelter Syndrome: A Guide for Families What is Klinefelter Syndrome? Chromosome analysis. hormone (LH) levels, on the other hand, is lesser. Consistent with previous observations in adolescent and adult Klinefelter subjects, testosterone levels in the neonatal period were lower than in normal infants. Following 200 μg thyrotrophin releasing hormone, an enhanced prolactin response was seen in the males with Klinefelter's syndrome. 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). Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). 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. Genetically determined male infertility and assisted reproduction techniques. This site needs JavaScript to work properly. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. 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. Fertility problems are common in men with Klinefelter’s syndrome. Karyotyping can also be performed during pregnancy by analysing the fluid surrounding the fetus (amniocentesis) or by obtaining placental tissue (chorionic villus sampling). A study of the endocrine manifestations of hepatic cirrhosis. The primary effects of Klinefelter’s Syndrome (KS) are low testosterone and infertility. 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. 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). The greater the number of cells containing an extra X chromosome, the more likely it is to lead to features of Klinefelter’s syndrome. pathophysiology male child is born with an extra, inactivated X chromosome . is an important sign for Klinefelter syndrome. However, most men with Klinefelter’s syndrome may have a normal sex life, especially when given appropriate treatment. A serum FSH . 2019 May;64(2):209-219. doi: 10.1007/s12020-019-01850-y. Klinefelter syndrome (KS) (47,XXY) is the most common male sex chromosome aneuploidy with a prevalence of approximately 1 in 650 males. Patient factsheet: SfE position statement on male hypogonadism and ageing. 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). 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. Paulsen CA, Gordon DL, Carpenter RW, Gandy HM, Drucker WD. 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. In these cases, surgery may be offered to restore normal male appearances. 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. Many KS males are … Klinefelter’s syndrome only affects men. 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] Overview of Klinefelter Syndrome, 47,XXY. Sperm formation may be decreased … 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). Testosterone replacement therapy helps to improve testosterone levels in order to aid muscle development, facial and body hair growth, and sex drive. Low levels of gonadotropins in karyotypically proven cases are not expected, they are extremely rare occurrences. Many boys with Klinefelter syndrome show symptoms related to their development of social and language skills. Men with Klinefelter syndrome have lower levels of male hormones and higher levels of estrogen. LH is needed for the cells in the testes to make testosterone. 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. 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). NIH If given by intramuscular injection, this can rarely cause pain and swelling at the site of the injection. Early identification of affected individuals is therefore helpful. This is usually carried out as an outpatient. Both these procedures carry some risk and are performed as an inpatient. Testosterone replacement will not improve fertility. Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. Klinefelter syndrome is associated with decreased levels of testosterone and is the most common cause of congenital hypogonadism. Treatment of Klinefelter Syndrome It’s never too late to treat Klinefelter, but the earlier you start, the better. 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. Patients with Klinefelter’s syndrome may have reduced coordination compared with other boys. 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