Klinefelter syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People typically have two sex chromosomes in each cell: females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). Most often, Klinefelter syndrome results from the presence of one extra copy of the X chromosome in each cell (47,XXY). Extra copies of genes on the X chromosome interfere with male sexual development, often preventing the testes from functioning normally and reducing the levels of testosterone. Most people with an extra X chromosome have the features described above, although some have few or no associated signs and symptoms.. Some people with features of Klinefelter syndrome have more than one extra sex chromosome in each cell (for example, 48,XXXY or 49,XXXXY). These conditions, which are often called variants of Klinefelter syndrome, tend to cause more severe signs and symptoms than classic Klinefelter syndrome. In addition to affecting male sexual ...
ABSTRACT with KEYWORDS: 47,XXY, XXY syndrome, fertility, intracytoplasmic sperm injection, Klinefelter syndrome, male, male infertility, microdissection testicular sperm extraction, non-mosaic Klinefelter syndrome, non-obstructive azoospermia, paternity, sperm count, sperm re- trieval, testicular sperm aspiration, testicular sperm extraction, testicular sperm retrieval, testosterone
1. Aksglaede L, Link K, Giwercman A, Jørgensen N, Skakkebaek NE, Juul A. 47,XXY Klinefelter syndrome: clinical characteristics and age-specific recommendations for medical management. Am J Med Genet C Semin Med Genet. 2013;163C:55-63 2. Maiburg M, Repping S, Giltay J. The genetic origin of Klinefelter syndrome and its effect on spermatogenesis. Fertil Steril. 2012;98:253-60 3. Linden MG, Bender BG, Robinson A. Sex chromosome tetrasomy and pentasomy. Pediatrics. 1995;96(4 Pt 1):672-82 4. Bojesen A, Kristensen K, Birkebaek NH, Fedder J, Mosekilde L, Bennett P. et al. The metabolic syndrome is frequent in Klinefelters syndrome and is associated with abdominal obesity and hypogonadism. Diabetes Care. 2006;29:1591-8 5. Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice. Nat Clin Pract Urol. 2007;4:192-204 6. Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab. 2003;88:622-6 7. Wistuba J, ...
One in every 500 men is born with an extra X chromosome, with a karyotype of 47, XXY rather than the typical 46, XY male karyotype. This is known as Klinefelter Syndrome and is the most common genetic variation which impacts a mans fertility. Men with pure Klinefelter Syndrome are nearly universally azoospermic with a sperm count of zero in the semen due to a lack of adequate sperm production in the testicles. Just nearly two decades ago these men were told they could not be fathers with their own sperm, but things have dramatically changed in our understanding since then.. The majority of men with Klinefelter Syndrome, approximately 70%, can have sperm retrieved through a highly meticulous microdissection testicular sperm extraction (microTESE) in the hands of highly skilled microsurgically trained reproductive urologists. Dr. Parviz Kavoussi performs microTESE regularly with excellent sperm retrieval rates. The embryologists from Westlake IVF join him in the operating room for this highly ...
... is a chromosomal condition that affects male sexual development. Males with this condition typically have small testes that do not produce enough testosterone, which is the hormone that directs male sexual development before birth and during puberty. A shortage of testosterone during puberty can lead to breast enlargement (gynecomastia), reduced facial and body hair, and an inability to father children (infertility). Older children and adults with Klinefelter syndrome tend to be taller than other males their age. Compared with other men, adult males with Klinefelter syndrome have an increased risk of developing breast cancer and a chronic inflammatory disease called systemic lupus erythematosus. Their chance of developing these disorders is similar to that of normal adult females ...
Supplement In humans, the sex chromosomes are the X chromosome and the Y chromosome. The basis of sex determination in humans is on the pair of sex chromosomes present in an individual. For instance, the presence of two X chromosomes characterizes a female whereas the presence of one X chromosome and one Y chromosome is a characteristic of a male. There are instances though when certain individuals have a different set of chromosomal composition. One of them is an individual with XXY chromosomes. This genetic condition is referred to as Klinefelter syndrome. Klinefelter syndrome is a genetic condition characterized by the presence of at least one extra X chromosome in males. The condition may not be detected early on since most of the symptoms become noticeable at puberty. Males with this condition have less body hair, weaker muscles, greater height, enlarged breasts, broader hips, and small testes. Many of these symptoms are associated with less testosterone produced in males with Klinefelter ...
It can be diagnosed before or immediately after a child is born. In other cases, Klinefelter Syndrome is identified during childhood when learning or behavioural difficulties develop, or around the time of puberty when expected physical changes are delayed or dont happen.. Because the symptoms arent always obvious, an adult might not be diagnosed until they seek medical help for infertility, a loss of sex drive, or a bone fracture. The majority of Klinefelter cases are diagnosed in adulthood.. We think that as many as 75% of men with Klinefelter Syndrome are never diagnosed, and remain untreated for life, possibly because doctors dont routinely check the size of testicles.. ...
TY - CHAP. T1 - Klinefelter syndrome. T2 - Early treatment of the adolescent is not warranted. AU - Katz, Matthew J.. AU - Ramasamy, Ranjith. AU - Schlegel, Peter N.. PY - 2015/1/1. Y1 - 2015/1/1. N2 - Klinefelter syndrome (KS) is the most common sex chromosomal disorder in men, diagnosed 1 in 600 newborn males. Young boys with KS typically display various hormonal abnormalities and spermatogenic degeneration before the completion of puberty. There is controversy as to the optimal time to begin fertility treatment in KS patients. While early intervention has been proposed, treatment of KS adolescents is not warranted based on currently available data. Early intervention, including testosterone therapy and testicular biopsy can result in long-term adverse effects. Cryopreservation of spermatogonial stem cells during adolescence is of unknown benefit. Sperm retrieval rates in KS adults are better than retrieval rates from adolescents and comparable or better than rates seen in other men with ...
[Some new aspects of the Klinefelter syndrome].: Klinefelter syndrome (KS) is the most frequent form of male hypogonadism. Still, at least 50% ofcases are not d
In terms of the childs education, XXYs with Klinefelter Syndrome are typically well behaved in the classroom and are eager to please the teacher. However, if they are presented with material that they find difficult, they tend to withdraw. If it goes unnoticed by the teacher, the child may fall behind in the curriculum and may need to be held back a grade. Therefore, it is important, for the success of the child, to be in a small classroom where he can receive sufficient individual attention from the teacher. The childs chances of success are even greater if the parents and school cooperate to form an individualized education plan and provide related services if necessary ...
This study will elucidate how the parental origin of the X-chromosome influences health status as well as metabolic fate in Klinefelter patients. Epigenetics and transcriptome-research will be directly linked to the metabolic and inflammatory pattern of actual patients to improve care for them. The Klinefelter Syndrome is one of the most common genetic disorders in men. The patients have one supernumerary X-chromosome, which is partly active and disturbs a normal male development. Testosterone deficiency in form of primary hypogonadism is a common feature in these men. Such a condition promotes clinically relevant metabolic patterns related to a pro-inflammatory status and diabetes mellitus type 2 (insulin resis-tance), cardiovascular disease as well as infertility. However, the variety of pathologies is pro-nounced between patients and low testosterone concentrations cannot fully explain the wide scope of pathologies in these men. Some patients become clinically obvious during puberty and ...
This study will elucidate how the parental origin of the X-chromosome influences health status as well as metabolic fate in Klinefelter patients. Epigenetics and transcriptome-research will be directly linked to the metabolic and inflammatory pattern of actual patients to improve care for them. The Klinefelter Syndrome is one of the most common genetic disorders in men. The patients have one supernumerary X-chromosome, which is partly active and disturbs a normal male development. Testosterone deficiency in form of primary hypogonadism is a common feature in these men. Such a condition promotes clinically relevant metabolic patterns related to a pro-inflammatory status and diabetes mellitus type 2 (insulin resis-tance), cardiovascular disease as well as infertility. However, the variety of pathologies is pro-nounced between patients and low testosterone concentrations cannot fully explain the wide scope of pathologies in these men. Some patients become clinically obvious during puberty and ...
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. 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).
The AAKSIS E-Mail List has been formed to provide discussion, support, and fellowship for the international community of those medically diagnosed as being XXY (and variants), or having Klinefelter Syndrome, their supporters, family members, spouses, medical, and psychological advisors.
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Other males can have Klinefelters Syndrome as well as humans. The mouse is one example.[4] Tortoiseshell or calico markings on male cats are an indicator of a similar syndrome. These cats are considered to be the model organism for Klinefelter syndrome, because the gene for a cats tabby coat markings is found on the X chromosome. [5]. ...
Males diagnosed with Klinefelter Syndrome also often experience learning difficulties and speech and language disorders. Because of the host of problems that this syndrome presents, early diagnosis and treatment is crucial. There is no cure for this condition, but there are numerous treatments available. With the right medical treatments, most males can grow up to have normal lives. It is imperative for a patient to begin treatment as early as possible. Unfortunately, if a physician fails to diagnose, or misdiagnosis, Klinefelter Syndrome, it can considerably increase the number of medical problems that a patient experiences, thus affecting their quality of life.. Because this condition is not well-known, it is not included in the standard battery of tests that doctors usually perform on unborn children. The cause of Klinefelter Syndrome can generally be attributed to genetic factors, but the use of certain prescription medications, such as Wellbutrin and other antidepressants during pregnancy, ...
Klinefelters syndrome pictures indicate symptoms like weak bones, diminished energy, delayed puberty etc. Read about Klinefelter syndrome treatment, causes
Abstract. Objectives: Klinefelter syndrome (KS) is one of the most common sex-chromosome disorders as it affects up to 1 in every 600-1000 newborn males. Men with KS carry one extra X chromosome and they usually present a 47,XXY karyotype, but less frequent variants have also been reported in literature. KS typical symptoms include tall stature, gynecomastia, broad hips, hypogonadism and absent spermatogenesis. The syndrome is also related to a wide range of cognitive deficits, among which language-based learning disabilities and verbal cognition impairment are frequently diagnosed. The present study was carried out to investigate the role of mitochondrial subunits in KS, since the molecular mechanisms underlying KS pathogenesis are not fully understood.. Methods: The study was performed by the next generation sequencing analysis and qRT-PCR assay.. Results: We were able to identify a significant down-expression of mitochondrial encoded NADH: ubiquinone oxidoreductase core subunit 6 (MT-ND6) in ...
It has also been documented that a few women are XXY. They couldnt be described as having KS as the symptoms are irrelevant to them.. So XXY and KS are similar, but not always interchangeable and XXY is not always a male thing.. It has been suggested that, as the symptoms which Harry Klinefelter originally observed are relevant only to adults, then one should not refer to children as having the syndrome - their condition should be referred to as XXY.. There is now a growing awareness in society as a whole that gender identity isnt two fixed points but instead is a spectrum - some males are more male than others and some females are more male than others. Most peoples gender matches their sex, but for some, the two dont agree. Some people are very clear as to what gender they are, others less so. Some may feel gender fluid.. This applies to XXY people too. Some are male, a few are female and others are neither - or both.. However, those who do not identify as male often dislike the ...
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.
... is the genetic disorder where a boy is born with more than one X chromosomes. Most males have one X and one Y chromosome. Having extra X chromosomes leads to having certain physical traits unusual for males. This is the forum for discussing anything related to this health condition
A genetic disorder in males caused by having one or more extra X chromosomes. Males with this disorder may have larger than normal breasts, a lack of facial and body hair, a rounded body type, and small testicles. They may learn to speak much later than other children and may have difficulty learning to read and write. Klinefelter syndrome increases the risk of developing extragonadal germ cell tumors and breast cancer. ...
Background: Klinefelter syndrome (KS) is the commonest sex chromosomal disorder. Characteristic features include male phenotype with hypogonadism and progressive testicular failure, gynaecomastia and learning difficulties. The association between mediastinal germ cell tumours (GCT-M) and KS is well established, with KS occurring in 20% of GCT-M patients and the reported incidence of GCT-M in KS being 1.5 per 1000 (Nichols, 1991). Genital anomalies are also known to be rarely observed in KS (Lee et al., 2007).. We report two unusual presentations of KS.. Case 1: A baby, with an antenatal diagnosis of KS (47, XXY), was born to non-consanguineous parents with normal female genitalia showing no evidence of clitoromegaly, labial fusion or palpable gonads, with separate urethral and vaginal openings. Antenatal counselling had prepared parents for a male infant. A poor testosterone response to HCG stimulation, low anti-mullerian hormone and markedly elevated gonadotrophins were consistent with gonadal ...
Klinefelter syndrome is a genetic disorder that doesnt have a cure, but most men who have it can live normal, healthy lives. Learn the causes, symptoms, and treatments.
Robert D. Oates, M.D.. Volume 100, Issue 4, Pages 943-944, October 2013. Abstract:. Reflections on "Successful testicular sperm retrieval in adolescents with Klinefelter syndrome treated with at least 1 year of topical testosterone and aromatase inhibitor" by Mehta et al.. ...
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Disease Definition:. One of the most common genetic conditions that affect males is klinefelter syndrome, which is usually the result of an extra copy of the X chromosome in each cell. Between 1 in 500 and 1 in 1,000 men are affected by this syndrome. Usually, the effects of this syndrome vary from one person to another. Boys who are born with this syndrome have low levels of the sex hormone testosterone because this condition could affect testicular growth, which could result in reduced muscle growth, gynecomastia (enlarged breast tissue) and reduced body and facial hair. In some cases, this syndrome could cause learning and social difficulties during childhood and adolescence. This syndrome is usually not diagnosed until adulthood. However, treatment could help prevent or treat problems caused by the condition in case it has been diagnosed with a genetic test before birth or during childhood. Although new procedures are making it possible for men with this syndrome to father children, however, ...
ObjectivesTo examine the effects of early low-dose androgen on motor, cognitive, and behavioral function in prepubertal boys with Klinefelter syndrome (47,XXY).Study designDouble-blind trial of 84 boys, ages 4-12 years, randomized to oxandrolone (Ox; 0.06 mg/kg daily; n = 43) or placebo (Pl; n = 41)
- Klinefelter syndrome is a genetic disorder that occurs in males who have three or more sex chromosomes. At least two of the chromosomes must be X chromosomes, and one must be a Y chromosome. The condition causes males to have some female-like physical features.
Patient Presentation A 17-year-old male with known Klinefelter syndrome (KS) came to clinic for his health supervision visit. He had his attention deficit disordertreated with a stable amount of long-acting methylphenidate with good response and few side effects. He was entering his high school senior year and was doing fairly well in school with some…
As this eMedTV page explains, children with Klinefelter syndrome are similar to other children, except they usually have difficulties in language acquisition and development. This page provides tips for parents of children with this condition.
There are many things which can lead to various sex problems, some of which are difficult to pinpoint. Klinefelter syndrome is a chromosomal disorder that can cause problems in the bedroom.
Different babies develop at different rates. Sitting up and standing come at different times to babies and it doesnt necessarily mean that there is a problem. Usually, even those that are a bit slower than the others will catch up with the rest at some point.. Despite this, however, slower than usual developing can be a sign of Klinefelter syndrome. It might not be noticeable to begin with because babies do develop at different rates. In addition to sitting and standing, it can also cause babies to develop slower than others when it comes to speech. If you do notice a baby is developing slower than they should do, you should arrange to get it checked out.. Advertisement. ...
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Learn how having an extra chromosome produces a genetic disorder known as Klinefelters syndrome, 47,XXY or XXY syndrome. Cause, symptoms and treatment of Klinefelters syndrome
What is Klinefelters Syndrome? Klinefelters Syndrome is a genetic disorder first discoverd by Harry Klinefelter in 1942. It is caused by an extra X ch...
Sindrom Klinefelter ya iku kelainan genetik ing wong lanang kang diakibataké déning akèhé kromosom X.[1] Wong lanang lumrahé duwé kromosom sèks wujud XY, nanging panyandhang sindrom klinefelter lumrahé duwé kromosom sèks XXY.[1] Panyandhang sindrom klinefelter bakal ngalami infertilitas, keterbelakangan mental, lan gangguan perkembangan ciri-ciri fisik ing antarané wujud ginekomastia (klenjar susu kang gedhé) lan mrebawani marang gedhéné payudhara, lsp.[1] Laporan wiwitan ngenani sindrom klinefelter kawanuhaké déning Harry Klinefelter lan kancané ing Rumah Sakit Massachusetts, Boston.[2] Nalika iku kacathet 9 pasien lanang kang duwé payudhara kang saya suwé saya gedhé, duwé rambut ing awak, tèstis saya cilik, ora patiya mampu mrodhuksi spèrma.[2] Ing taun 1950-an, para ilmuwan nemu manawa sindrom kang dialami déning 9 pasienmau disebabaké déning kromosom X tambahan ing wong lanang mula duwé kromosom XXY.[2] Ing taun 1970-an, para ilmuwan kandha manawa kelainan ...
If the Father provided a Y chromosome then the genotype would be 46XY and the child would be male Boys with Klinefelters syndrome have an extra X chromosome making their genotype 47XXY. The additional X chromosome can come from either parent.. I set out some diagrams in a word document to help explain this point. Unfortunately much as I have tried I can not publish them onto here!? ...
Humans have 46 chromosomes. Chromosomes contain all of your genes and DNA, the building blocks of the body. The two sex chromosomes determine if you become a boy or a girl. Females normally have two XX chromosomes. Males normally have an X and a Y chromosome. Klinefelter syndrome is one of a group of sex chromosome problems. It results in males who have at least one extra X chromosome. Usually, this occurs due to one extra X. This would be written as XXY. Klinefelter syndrome occurs in about 1 out of 500 - 1,000 newborn boys. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. ...
Efforts are underway to try and increase identification of Klinefelter males as soon as possible to allow intervention at an earlier stage, although it is unknown if that will necessarily change the course of the disorder. While this may certainly turn out to be important for the learning difficulties that are part of the Klinefelter phenotype, it is unclear at this time whether early therapeutic involvement in terms of androgen replacement or fertility is helpful or hurtful to the individual. This contribution will briefly summarize what is understood about testicular function and anatomy as regards both the androgenic and spermatogenic compartments.. ...
Klinefelter Syndrome People making a difference. For those of you who have been wondering how you can be making a difference in other Klinefelter Syndrome Peoples lives, now you can. I believe that if you share your story of growing up with Klinefelter syndrome, newly diagnosed or something positive that helps in your life, it will … ...
Male chest recontouring for large male breasts (gynecomastia) found in Klinefelters Syndrome with surgical reduction by excision and liposuction. Before and after photographs, links, movies, and patient question and answer boards. ...
Klinefelters Syndrome is the most frequent sex chromosomal genetic disorder and is caused by the presence of an extra X chromosome.
J Clin Endocrinol Metab. 2007 Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E. Institute of Reproductive Medicine, University Clinics of Münster, D-48129 Münster, Germany. CONTEXT: The 46,XX male syndrome represents a rare, poorly characterized form of male hypogonadism. OBJECTIVE: The objective of the study was to distinguish the 46,XX male syndrome from the more frequent 47,XXY-Klinefelter syndrome in regard to clinical, hormonal, and epigenetic features. DESIGN: This was a case-control study. SETTING: The study was conducted at a university-based reproductive medicine and andrology institution. PATIENTS: Eleven SRY-positive 46,XX males were compared with age-matched controls: 101 47,XXY Klinefelter patients, 78 healthy men, and 157 healthy women [latter all heterozygous for androgen receptor (AR) alleles]. INTERVENTIONS: There were no interventions. MAIN OUTCOME MEASURES: There was a comparison of phenotype, endocrine profiles, and X-chromosomal inactivation patterns of AR ...
J Clin Endocrinol Metab. 2007 Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E. Institute of Reproductive Medicine, University Clinics of Münster, D-48129 Münster, Germany. CONTEXT: The 46,XX male syndrome represents a rare, poorly characterized form of male hypogonadism. OBJECTIVE: The objective of the study was to distinguish the 46,XX male syndrome from the more frequent 47,XXY-Klinefelter syndrome in regard to clinical, hormonal, and epigenetic features. DESIGN: This was a case-control study. SETTING: The study was conducted at a university-based reproductive medicine and andrology institution. PATIENTS: Eleven SRY-positive 46,XX males were compared with age-matched controls: 101 47,XXY Klinefelter patients, 78 healthy men, and 157 healthy women [latter all heterozygous for androgen receptor (AR) alleles]. INTERVENTIONS: There were no interventions. MAIN OUTCOME MEASURES: There was a comparison of phenotype, endocrine profiles, and X-chromosomal inactivation patterns of AR ...
J Clin Endocrinol Metab. 2007 Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E. Institute of Reproductive Medicine, University Clinics of Münster, D-48129 Münster, Germany. CONTEXT: The 46,XX male syndrome represents a rare, poorly characterized form of male hypogonadism. OBJECTIVE: The objective of the study was to distinguish the 46,XX male syndrome from the more frequent 47,XXY-Klinefelter syndrome in regard to clinical, hormonal, and epigenetic features. DESIGN: This was a case-control study. SETTING: The study was conducted at a university-based reproductive medicine and andrology institution. PATIENTS: Eleven SRY-positive 46,XX males were compared with age-matched controls: 101 47,XXY Klinefelter patients, 78 healthy men, and 157 healthy women [latter all heterozygous for androgen receptor (AR) alleles]. INTERVENTIONS: There were no interventions. MAIN OUTCOME MEASURES: There was a comparison of phenotype, endocrine profiles, and X-chromosomal inactivation patterns of AR ...
As babies and children, XXY males may have weaker muscles and reduced strength. As they grow older, they tend to become taller than average. They may have less muscle control and coordination than other boys of their age.[14] During puberty, the physical traits of the syndrome become more evident; because these boys do not produce as much testosterone as other boys, they have a less muscular body, less facial and body hair, and broader hips. As teens, XXY males may develop breast tissue[15] and also have weaker bones, and a lower energy level than other males.[14] By adulthood, XXY males look similar to males without the condition, although they are often taller. 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).[16] Gynecomastia is present to some extent in about a third of affected individuals, a slightly higher percentage ...
✅ Answered - [One] [Two] [three] [None] are the options of mcq question A woman has a child with Klinefelters syndrome. Number of barr bodies present in the child is realted topics , Genetic basis of Inheritance, Genetic basis of Inheritance topics with 0 Attempts, 0 % Average Score, 2 Topic Tagged and 0 People Bookmarked this question which was asked on Feb 23, 2019 23:23
Liam who is 18 will be travelling to Bath in August for the Special Olympics GB National Games, where he will be representing Tayside in the 200m, 400m and long jump events ...