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";s:4:"text";s:30177:"The sex of birds, some insects, and other organisms is determined by a ZW chromosomal arrangement in which the males have like sex chromosomes (ZZ) and females are ZW (similar to XY in humans). [16], As babies and children, XXY males may have weaker muscles and reduced strength. Mental Health of a Large Group of Adults With Variations of Sex Development in Six European Countries. The XXY condition that causes Klinefelter syndrome can't be changed, but medical treatment and working with therapists can help a boy's development and help lessen the condition's effects. [58] Klinefelter syndrome is a genetic condition in which males (who normally have one X chromosome and one Y chromosome) possess an extra X chromosome (XXY karyotype). Klinefelter syndrome is a genetic condition that affects only males. [40], The standard diagnostic method is the analysis of the chromosomes' karyotype on lymphocytes. [4][10] The extra X chromosome comes from the father and mother nearly equally. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). Another mechanism for retaining the extra chromosome is through a nondisjunction event during meiosis II in the egg. There are 23 pairs of chromosomes found in each cell of the body, and each contain genes that determine our colouring, our features, and our sex. ", "Klinefelter syndrome and other sex chromosomal aneuploidies", "Breast cancer risk among patients with Klinefelter syndrome", "Klinefelter Syndrome (KS): Condition Information", "Klinefelter Syndrome: Practice Essentials, Pathophysiology, Epidemiology", "Understanding Klinefelter Syndrome: A Guide for XXY Males and their Families", "Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study", "Novel genetic aspects of Klinefelter's syndrome", "Klinefelter Syndrome – Inheritance Pattern", "Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients", "Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreated", 10.1002/(SICI)1097-0223(199704)17:4<363::AID-PD79>3.0.CO;2-O, "Clinical review: Klinefelter syndrome—a clinical update", "Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis", "Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009? 1 in 700–1000 live male births. About 10% of XXY males have gynecomastia noticeable enough that they may choose to have cosmetic surgery. Intestinal pseudo … About 1 out of every 500 men have an extra X chromosome, but not all men have symptoms and signs. Klinefelter's syndrome is a condition caused by a chromosome nondisjunction in males; affected individuals have a pair of X sex chromosomes instead of just one, and is associated with additional risk for some medical conditions. Although many males with this condition are taller than average, the chromosomal change sometimes causes no unusual physical features. [11] Women at 40 years have a four times higher risk for a child with Klinefelter syndrome than women aged 24 years. [21] It has been estimated that 50% of males with Klinefelter syndrome can produce sperm. ", "Increased mortality in Klinefelter syndrome", "Mortality in patients with Klinefelter syndrome in Britain: a cohort study". This answer is “No.” Females born with an extra X are Trisomy X; and while all males who are born with an extra X chromosome are at risk of developing Klinefelter Syndrome, for currently unexplained reasons, there is broad phenotypic variability and many of these 47,XXY individuals may not develop one or more of the distinguishing signs and symptoms. As babies the males with XXY karyotype generally have As babies the males with XXY karyotype generally have weak muscles and reduced strength. A small blood sample is sufficient as test material. An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. [13] In 1956, the extra X chromosome was identified as the cause. [6] XXY males appear to have a higher risk of breast cancer than typical, but still lower than that of females. There is usually a small testicle volume of 1–5 ml per testicle (standard values: 12–30 ml). [37] These variations are extremely rare. [50], This syndrome, evenly distributed in all ethnic groups, has a prevalence of one to two subjects per every 1000 males in the general population. Here's what you should know about the causes, symptoms, and treatment options for the condition. We pay our respects to their Elders past, present and emerging, Without stories there is silence, without stories told we are voiceless. Joe Hin Tjio and Albert Lavan confirmed there were twenty-three pairs of chromosomes in humans. If you are not satisfied with their response, we would encourage you to seek out additional opinions until you find the answers that are right for you, We acknowledge the Traditional Owners of country throughout Australia and recognise their continuing connection to land, waters and culture. Often, symptoms are subtle and subjects do not realize they are affected. [19] Gynecomastia is present in about a third of affected individuals, a slightly higher percentage than in the XY population. 2009;15:209-317. [11] Furthermore, Klinefelter syndrome can be diagnosed as a coincidental prenatal finding in the context of invasive prenatal diagnosis (amniocentesis, chorionic villus sampling). Cytological examination have suggested that Y-chromosome does not play any role in determination of sex in Drosophila. This happens in XXY males, as well as normal XX females. Men inherit an X chromosome from their mothers and a Y chromosome from their fathers, written 46,XY. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. Most XXY’s are infertile, but some (mainly mosaic) produce sperm and may be able to conceive with assisted reproduction. [56] In 1956 it was discovered that Klinefelter syndrome resulted from an extra chromosome. For others, signs and symptoms may include learning disabilities, speech delay, … Klinefelter or XXY syndrome is a genetic disease that causes babies to be born with an extra X chromosome. About 10% of KS cases are found by prenatal diagnosis. [20], Affected males are often infertile, or have reduced fertility. The incidence of 49,XXXXY is one in 85,000 to 100,000 male births. If you, or a member of your family, have been recently diagnosed it is important to remember that while there may be challenges, the situation is far from being hopeless. If any gifts that were sent have been used or lost, the buyer will be responsible for paying for those items in order to complete a return or exchange. The more chromosomes the more debilitating the condition is and the more likely one will pass away sooner then later in As a result, the baby has three sex chromosomes instead of 2, with male sex. It’s chromosomal variation in males with an extra X chromosome, these extra chromosomes can affect physical, developmental, behavioral, and cognitive functioning. [25][26], XXY males are more likely than other men to have certain health problems, such as autoimmune disorders, breast cancer, venous thromboembolic disease, and osteoporosis. 48,XXYY or 48,XXXY occurs in one in 18,000–50,000 male births. Causes. ", "How do health care providers diagnose Klinefelter syndrome (KS)? [17] It’s estimated that 10% of men with Klinefelter syndrome are Autistic. No one knows, its a natural occurring process present among all living things. Updated April 2020 by Candice Cody, Administrator @The XXY Project, This site is for educational purposes only and is not meant to serve as medical advice. An extra X chromosome in some of the cel… But it includes XXYY, XXXY and XYYY. Dr. Albright encouraged his young associate to be the lead author on the study, which was published in the November 1942 issue of The Journal of Clinical Endocrinology, and the combination of symptoms that Dr. Klinefelter described therein has since been referred to as “Klinefelter Syndrome”. At a basic level, the word intersex is used to describe someone who is born with variations in sex characteristics – such as chromosomes, genitals, gonads, or sex hormones – that do not fit the typical definitions for “male” or “female” bodies. Dev Disabil Res Rev. [44] Testosterone preparations are available in the form of syringes, patches or gel. XXXY syndrome is a genetic condition characterized by a sex chromosome aneuploidy, where males have two extra X chromosomes. Tap again to see term . This XXY chromosome arrangement is one of the most common genetic variations from the XY karyotype, occurring in about one in 500 live male births. Chromosomes are packages of genes found in every cell in the body. Women inherit two X chromosomes — one from each parent, written 46,XX. Low testosterone may cause some boys with 47, XXY to have delayed or incomplete puberty, as well as may worsen concentration, mood, and behavioral problems. From the onset of puberty, the existing testosterone deficiency can be compensated by appropriate hormone replacement therapy. The cause is unknown, yet XXY occurs in approximately 1 in every 650 live births, making it one of the most common chromosome variations. Is the prevalence of Klinefelter syndrome increasing? [59][60]John Randolph of Roanoke had a genetic condition, possible Klinefelter syndrome, that left him beardless and with a soprano prepubescent voice throughout his life. ", "What are the treatments for symptoms in Klinefelter syndrome (KS)? Because of the extra chromosome, individuals with the condition are usually referred to as "XXY Males", or "47, XXY Males". As they grow older, they tend to become taller than average. So I was always a little different. [45], The use of behavioral therapy can mitigate any language disorders, difficulties at school, and socialization. He wrote: “the Syndrome has been found to be a chromosomal variation, in which there is an extra X chromosome in 80% of patients. 47, XXY refers to the presence of an additional X chromosome in a person’s body cells. Klinefelter syndrome, also known as the XXY condition, is a term used to describe males who have an extra X chromosome in most of their cells. [4][8] It is named after American endocrinologist Harry Klinefelter, who identified the condition in the 1940s. In 1942, a young doctor by the name of Harry Klinefelter was assigned to work with Dr. Fuller Albright who was commonly considered to be the father of Endocrinology at Massachusetts General Hospital in Boston. [1], Klinefelter syndrome occurs randomly. What Is Klinefelter Syndrome? In Drosophila, XXY condition leads to femaleness. [19][55] The account given by Klinefelter came to be known as Klinefelter syndrome as his name appeared first on the published paper, and seminiferous tubule dysgenesis was no longer used. The extra chromosome is present in either the sperm or the egg that forms the Are 47,XXY and Klinefelter Syndrome the same thing? XX male syndrome, also known as de la Chapelle syndrome, is a rare congenital intersex condition in which an individual with a 46, XX karyotype (otherwise associated with females) has phenotypically male characteristics that can vary among cases. This occurs as a result of a problem in the way cells divide either before or after conception . Therefore, for an individual with an XXY karyotype who does not identify as male, Klinefelter Syndrome may not be a suitable diagnosis. 47, XYY syndrome is a syndrome (group of signs and symptoms) that affects males. However, this is not the case. The primary features are infertility and small poorly functioning testicles. We would caution anyone against using the information, in place of seeking real time medical or mental health support. XXY condition generally affects Klinefelter Syndrome Page 1 three major areas of development namely physical, social and language. About one of every 500 males has an extra X chromosome, but many don't have any symptoms. For others, the low testosterone may not cause noticeable symptoms until adulthood when low sexual drive and tiredness may develop and continue to worsen with age. Begin now to seek out the medical and psychological treatment and support network that may be needed. Some individuals, however, have an additional X chromosome in their chromosomal arrangement, referred to as 47,XXY, or more commonly, just XXY. The answer is no. [6] Testosterone replacement may be used in those who have significantly lower levels. [1] Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast growth, and less interest in sex. [3] The primary features are infertility and small poorly functioning testicles. [29] Also, delays in motor development may occur, which can be addressed through occupational and physical therapies. If you are an XXY individual or have a child, Please consider making a small donation to assist with our running costs. For males whose testosterone level is low to normal, the benefits of taking testosterone are less clear than for when testosterone is very low. Klinefelter syndrome is caused by a random mistake in chromosome development and recurrence risk is low if someone in your family is affected. [48], The lifespan of individuals with Klinefelter syndrome appears to be reduced by approximately 2.1 years compared to the general male population. [17][27] In contrast to these potentially increased risks, rare X-linked recessive conditions are thought to occur less frequently in XXY males than in normal XY males, since these conditions are transmitted by genes on the X chromosome, and people with two X chromosomes are typically only carriers rather than affected by these X-linked recessive conditions. Children may have slightly weaker muscles, delayed development of motor skills, and learning and/or language problems. Approximately 15–20%[38] of males with KS may have a mosaic 47,XXY/46,XY constitutional karyotype and varying degrees of spermatogenic failure. Often there is an azoospermia present, rarely an oligospermia. [17] See also Triple X syndrome. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of … In 1956, some fourteen years after Dr. Klinefelter published his case study, Drs. Although a large percentage of XXY individuals identify as males, some develop atypical gender identities. One extra copy of the X chromosome in each cell (XXY), the most common cause 2. There have been reports of XXY individuals having a female physical appearance, but in most cases this was attributed to changes in specific genes related to sexual development. XXY is identified in an individual in several ways, before birth via the process of Amniocentesis and thereafter either via Karyotype, Fluorescence In Situ Hybridisation (FISH) or Buccal Smear, XXY is caused by the presence of an extra copy of the X chromosome in the nucleus of every cell of the body resulting in 47XXY in place of 46XY. RT @faridayasser100: ...", "Shame and the Serial Killer: Humiliation's influence on criminal behavior needs more attention", "Mark Errin Rust, who murdered Megumi Suzuki and Maya Jackic, will ask SA Supreme Court to grant him a non-parole period", "Pedro Spajari melhora desempenho após descobrir doença rara", "ഇന്റര് സെക്സും ട്രാന്സ്ജെന്ന്ററും ഒന്നല്ല; രണ്ടാണ്", Acute myeloblastic leukemia with maturation, 46,XX testicular disorders of sex development, https://en.wikipedia.org/w/index.php?title=Klinefelter_syndrome&oldid=999796937, Articles lacking reliable references from August 2016, Wikipedia indefinitely move-protected pages, Articles with unsourced statements from March 2015, Wikipedia medicine articles ready to translate, Creative Commons Attribution-ShareAlike License, XXY syndrome, Klinefelter's syndrome, Klinefelter-Reifenstein-Albright syndrome, This page was last edited on 12 January 2021, at 00:44. Klinefelter syndrome, also known as XXY, is caused by a redundant X chromosome in males. There are no obvious sexual consequences except that testicular abnormalities with impaired spermatogenesis and tubular atrophy may occur ( Polani 1972 ). Whereas women normally have two X chromosomes (XX), and men one X and one Y (XY), Klinefelter sufferers have two X and one Y (XXY), leaving them with a variable array of symptoms including smaller-than-normal testes and abnormally low testosterone. It can occur in either the sperm or the egg in either the first or second meiotic division. The usual 47 XXY pattern of Klinefelter’s syndrome accounts for around 80% of cases, however, there are also other variations. [49] These results are still questioned data, are not absolute, and need further testing. DOPAMINE Chemical produced in the middle part of the brain that is responsible for organizing coordinated movements and to send this signal to the control centers of the brain. The information should not be considered complete or exhaustive. [9], The genetic variation is irreversible, thus there is no causal therapy. The condition is caused by mutations, duplications, or deletions of the FLNA gene and the genes adjacent to the X chromosome. [38] Another possible mosaicism is 47,XXY/46,XX with clinical features suggestive of KS and male phenotype, but this is very rare. [31], Maternal age is the only known risk factor. Ross J, Zeger M, Kushner H, et al. Therefore, everyone must assume responsibility for their own health care and advocate to be treated as an individual until the appropriate formula and treatment regime is ascertained. [39], Analogous XXY syndromes are known to occur in cats—specifically, the presence of calico or tortoiseshell markings in male cats is an indicator of the relevant abnormal karyotype. "The William Allan Memorial Award address: human population cytogenetics: the first twenty-five years", "The transformation of Tula (transsexual Caroline Cossey)", "12, I was born with klinefelters syndrome. The XXY Project depends on volunteers with an affiliation of XXY to maintain our website and Media platforms. Klinefelter syndrome facts*. Genes are composed of deoxyribonucleic acid (DNA) that can be passed down and inherited from one generation to the next. The prevalence is 1 in every 1000 l… ", Eunice Kennedy Shriver National Institute of Child Health and Human Development, "How many people are affected by or at risk for Klinefelter syndrome (KS)? Treatment varies among individuals and may include testosterone therapy for male identifying XXY’s or Estrogen for Female and those who identify as Non-Binary however, this therapy may not be appropriate for all individuals. Common symptoms, such as low testosterone and breast development, are not unexpected features (or symptoms) if identified in females. As teens, XXY males may develop breast tissue[18] and also have weaker bones, and a lower energy level than other males. [47] By 2010, over 100 successful pregnancies have been reported using IVF technology with surgically removed sperm material from males with KS. A spermiogram can also be part of the further investigation. Original compilation: Vaughn Hambley (RIP) Carol Wilson and Ed Jensen. An XX egg is produced, which when fertilized with a Y sperm, yields an XXY offspring. Considering the names of all three researchers, it is sometimes also called Klinefelter–Reifenstein–Albright syndrome. Thus far, only about 10 cases of 47,XXY/46,XX have been described in literature. During his fellowship, Dr. Klinefelter examined and subsequently prepared a case study concerning nine adult men with a common set of symptoms. [citation needed], Some degree of language learning or reading impairment may be present,[28] and neuropsychological testing often reveals deficits in executive functions, although these deficits can often be overcome through early intervention. In adults, possible characteristics vary widely and include little to no sign of affectedness, a lanky, youthful build and facial appearance, or a rounded body type with some degree of gynecomastia (increased breast tissue). Intelligence is usuall… With good information, support, and a knowledgeable medical provider who is willing to work with you or your child, any medical issue that may be associated with the presence of an additional X chromosome can be addressed. Realize they are affected, Dr. Klinefelter examined and subsequently prepared a case study,.! Are the treatments for symptoms in Klinefelter syndrome happens in XXY males appear to have child! Produces an XXY individual or have reduced fertility n't have any symptoms to error... 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