Radioligand assay in reproductive biology. 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 It is suggested that the threshold for suppression of LH and FSH is increased in hypergonadotrophic states. Are there patient support groups for people with Klinefelter's syndrome? Chromosomes carry all of our genes, and genes give instructions for our bodies to grow and function. 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 … 2000 Nov;23(10):697-710. doi: 10.1007/BF03343796. 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. If testosterone levels are below the normal range, testosterone replacement therapy (TRT) is typically prescribed. 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. 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. Plasma oestradiol, LH and FSH levels were elevated and there was increased peripheral conversion of testosterone to oestradiol. 2. Rabinowitz D, Cohen MM, Rosenmann E, Rosenmann A, Segal S, Bell J, Rosler A, Spitz I. It is important that these interventions are implemented as early as possible during childhood. 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). 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). 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. Hormone replacement therapy (HRT) or testosterone replacement therapy is useful to help those with Klinefelter Syndrome or XXY. Individuals with this condition tend to present as tall, phenotypic men with small testes, decreased body hair, gynecomastia, and infertility. Klinefelter syndrome is associated with decreased levels of testosterone and is the most common cause of congenital hypogonadism. 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). pathophysiology male child is born with an extra, inactivated X chromosome . 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. Consistent with previous observations in adolescent and adult Klinefelter subjects, testosterone levels in the neonatal period were lower than in normal infants. Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. Epub 2019 Jan 30. Chromosomes are packages of genes found in every cell in the body. Chromosome analysis. Klinefelter syndrome (KS) is the most common genetic form of male hypogonadism, but overt phenotype becomes evident only after puberty. Klinefelter syndrome (KS) (47,XXY) is the most common male sex chromosome aneuploidy with a prevalence of approximately 1 in 650 males. It is one of the most common chromosome abnormalities in men. The dose is adjusted to maintain appropriate testosterone concentrations. hormone (LH) levels, on the other hand, is lesser. Learn more about Klinefelter syndrome, including how it affects men's hormone health and what treatment options are available. 3,25 It affects between 1 in 500 and 1 in 1,000 newborn males. Our LH (Luteinizing Hormone) and FSH (Follicle Stimulating Hormone) levels have typically increased above the normal range. The primary effects of Klinefelter’s Syndrome (KS) are low testosterone and infertility. Testosterone replacement will not improve fertility. Both LH and FSH levels were suppressed by acute or prolonged testosterone administration and there was no evidence for a differential effect on LH. 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. In the vast majority of boys, there are no other affected family members; it occurs sporadically. Not all individuals with this condition have the same symptoms or to the same degree; because of this variability, cases often remain undiagnosed. In individuals with Klinefelter’s syndrome who have developed breast enlargement, this sometimes becomes permanent. 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). They may also have trouble with social interactions throughout life, but particularly in childhood. 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. Patient factsheet: SfE position statement on male hypogonadism and ageing. level higher than normal range with very low levels of testosterone . 2010 Dec;33(11):839-50. doi: 10.1007/BF03350351. In Klinefelter syndrome, men have more than one X chromosome 5. Treatment of Klinefelter Syndrome It’s never too late to treat Klinefelter, but the earlier you start, the better. Consensus statement on diagnosis and clinical management of Klinefelter syndrome. The diagnosis of Klinefelter’s syndrome is confirmed by chromosomal analysis (karyotyping), which involves a blood test. 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). A blood sample is sent to the lab to check the shape and number of chromosomes. Some aspects of the hormonal abnormalities of Klinefelter's syndrome have been studied in nineteen patients. Klinefelter syndrome, 47,XXY (KS), occurs in about 150 per 100,000 males and is the most frequent chromosomal aberration in males. It is also a guide to available treatments for some of these problems. 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). 1975 Jul;5(3):263-72. doi: 10.1016/s0001-2998(75)80014-6. 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 most frequent clinical findings were cryptorch… The production rates of oestradiol and the binding capacities of the sex steroid binding globulin were normal. Clipboard, Search History, and several other advanced features are temporarily unavailable. The primary effects of Klinefelter’s Syndrome (KS) are low testosterone and infertility. 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). Variants of … Klinefelter's syndrome and its variants: a hormonal and chromosomal study. Individuals with this condition tend to present as tall, phenotypic men with small testes, decreased body hair, gynecomastia, and infertility. Klinefelter’s syndrome is a genetic condition but it is not inherited from the parents. If patients have any concerns, they should discuss them with their doctor. Less common side-effects include headache, mood change, nausea, jaundice, increased red blood cells, high blood pressure and fluid retention. We report here for the first time the kinetic evolution of gonadotropin and testis hormone levels in infants with prenatally diagnosed nonmosaic 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. Le syndrome de Klinefelter ou 47,XXY est une aneuploïdie qui se caractérise chez l'être humain par un chromosome sexuel X supplémentaire. Hormone testing. Chromosomes carry our genetic information. These check hormone levels in your blood or urine. Treatment will differ among individuals depending on their age at diagnosis and level of symptoms experienced. Unusual presentation of Klinefelter syndrome. 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. Testosterone replacement therapy helps to improve testosterone levels in order to aid muscle development, facial and body hair growth, and sex drive. 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). In pubertal patients, FSH and LH increased above the normal at 12.8 yr and 13.8 yr, respectively. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells.  |  An 18 year old phenotypic man is described with chromatin-positive Klinefelter's syndrome and undetectable peripheral human follicle stimulating hormone levels. Normally, men have a single X and single Y chromosome. 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. 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. A study of the endocrine manifestations of hepatic cirrhosis. 2008;17(2):27-30. doi: 10.1297/cpe.17.27. This is done as an outpatient. L'individu est alors de caractère masculin, mais infertile.Sa formule chromosomique s'écrit «47,XXY ». 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. Klinefelter syndrome is one of the most common chromosome conditions in newborns. The extra X chromosome can come from either the mother or the father. Klinefelter's Syndrome Association UK may be able to provide advice and support to patients and their families. There is, however, substantial variation in clinical presentation among individuals, and many cases remain undiagnosed. Santi D, De Vincentis S, Scaltriti S, Rochira V. Endocrine. Klinefelter syndrome is a genetic disease that causes males to be born with an extra copy of the X chromosome in their cells. This booklet offers information for expectant parents first learning about Klinefelter syndrome or 47,XXY, which is a chromosome condition. 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). 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. 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. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. These are named either X or Y. 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. Plasma oestradiol, LH and FSH leve … 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. Chromosome analysis. L'individu présente alors deux chromosomes X et un chromosome Y, soit 47 chromosomes au lieu de 46. Men with Klinefelter syndrome have cells with a Y chromosome plus at least two X chromosomes (but sometimes more). Many boys with Klinefelter syndrome show symptoms related to their development of social and language skills. 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 . 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. Both these procedures carry some risk and are performed as an inpatient. This is usually carried out as an outpatient. 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). Low levels of gonadotropins in karyotypically proven cases are not expected, they are extremely rare occurrences. 2013 Dec;17(Suppl 3):S683-4. Symptoms are often not noticed until adolescence or adulthood. From early school age, boys with Klinefelter’s syndrome tend to be taller (increased leg length) because testosterone  normally stops boys growing after puberty. Karyotyping can also be performed during pregnancy by analysing the fluid surrounding the fetus (amniocentesis) or by obtaining placental tissue (chorionic villus sampling). Does a positive oestrogen feedback on the hypothalamic-pituitary axis exist concurrently with a defective testosterone feedback in Klinefelter's syndrome? 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