Rates of chromosome abnormalities at different maternal ages. Before or shortly after birth early childhood adolescence adulthood. The primary features are infertility and small poorly functioning testicles. Klinefelter syndrome 2 about this book this booklet, klinefelter syndrome introduces a genetic condition which affects some boys, and its features from infancy to adulthood. Klinefelter syndrome resources, national and international support groups. Klinefelter sendromu it is very difficult to suspect klinefelter syndrome at this age group in the absence of other findings. Klinefelter syndrome is associated with a significantly higher morbidity rate compared to the male population as a whole. Klinefelter syndrome 47,xxy is the most common sex chromosome aneuploidy in men. You may do so in any reasonable manner, but not in.
Klinefelter syndrome individualswithklinefeltersyndromehave at leasttwo xchromosomes and at leastone ychromosome. People with this condition are born with at least one extra x chromosome. Klinefelter syndrome is one of the most common chromosomal disorders, occurring in 1. All structured data from the file and property namespaces is available under the creative commons cc0 license. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. The syndrome was first identified and described in 1942 by. An average of 62 members are effected every year in netherlands. A genetic condition that occurs in males when they have an extra x. View klinefelter syndrome research papers on academia. Because klinefelter syndrome is a genetic disorder, it cannot be prevented.
Klinefelter syndrome ks with the karyotype 47,xxy is one of the commonest types of congenital chromosomal disorder in males, with an incidence of 0. For this reason, the term klinefelter syndrome has fallen out of favor with the medical community and many experts prefer to describe males having an extra chromosome as xxy males. Klinefelter syndrome nord national organization for. Pediatric endocrinology fact sheet klinefelter syndrome. What links here related changes upload file special pages permanent link page. Case report olgu sunumu an older klinefelters syndrome. Pubmed was searched for klinefelter, klinefelters, and xxy in titles and abstracts. Ks is the most common sex chromosome disorder in males, affecting one in 660 men.
Clinical conferences at the johns hopkins hospital. Klinefelter syndrome can be diagnosed using genetic testing prenatally or later. Some males with ks have learning and language problems. A diagnosed condition that occurs in boys who have an extra x chromosome in most of their cells. We connect families with caregivers and caring companies to help you be there for the ones you love. It occurs because of a random additional chromosome in the egg, sperm, or fetus. Klinefelter syndrome support group home page, numerous links to other organizations and resources, created by an adult with klinefelter syndrome, regional groups, varients, international groups. And the rest 20% has the 46,xy47,xxy mosaic form, highgrade aneuploidies or x chromosome structural abnormalities 4. Klinefelter syndrome result from two or more x chromosome in males. But they also have two x chromosomes instead of one, and this. Sometimes, symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less.
It is congenital, which means it is present from birth. Klinefelter syndrome ks, also known as 47, xxy is the set of symptoms that result from two or more x chromosomes in males. Klinefelter syndrome is a genetic condition affecting males. Recently, new clinically important information regarding klinefelter syndrome ks has been published. Klinefelter syndrome ks, also known as 47, xxy is the set of symptoms that result from two or. Thus, it is important to establish an experimental animal model to explore its underlying molecular mechanisms. It results from an unequal sharing of sex chromosomes soon after fertilization. Dec 28, 2014 information on the topic of klinefelter s syndrome which means a born male is born with the chromosome pattern of xxy an extra female chromosome my interest in this lies that i was born with this and so ive heavily educated myself on the topic. The syndrome can affect different stages of physical, language and social development. Klinefelter syndrome congenital defects jama internal. Dec 28, 2014 information on the topic of klinefelters syndrome which means a born male is born with the chromosome pattern of xxy an extra female chromosome my interest in this lies that i was born with this and so ive heavily educated myself on the topic. Klinefelter syndrome ks is caused by a difference in the sex chromosomes xxy. Klinefelter syndrome information mount sinai new york. Klinefelter syndrome netherlands pdf ppt case reports.
Meiosis i gametogenesis nondisjunction occurs when homologouschromosomes x and y sex chromosomes fail toseparate, producing a sperm with an x and a ychromosome. This file contains additional information, probably added from the digital camera or scanner used to create or digitise it. Ks can cause a variety of problems including breast development, infertility, and hormonal changes. Once it is diagnosed, treatment may help reduce symptoms. Klinefelter syndrome and school genetics home page.
Sometimes symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less body hair, smaller genitals, breast growth. Klinefelter syndrome is the most common sex chromosome disorder, occurring in about 1500 live male births. Klinefelter syndrome is a condition that occurs as a result of an extra x chromosome during the formation of either a sperm or an egg cell. Klinefelter syndrome 47,xxy pediatrics merck manuals. Diagnosing klinefelter syndromethe greatest chances to make klinefeltersdiagnosing are in following times of life. Klinefelter syndrome 47, xxy is a chromosomal variation in males in which one extra x chromosome is present, resulting in a xxy sex chromosome karyotype. This emedtv segment talks about klinefelter syndrome and school, including information on auditory recall exercises and educational advocacy. Klinefelter syndrome nord national organization for rare. May 17, 20 klinefelter syndrome ks with the karyotype 47,xxy is one of the commonest types of congenital chromosomal disorder in males, with an incidence of 0. Klinefelter syndrome 47xxy occurs in approximately 1500 11,000 baby boys living with klinefelter syndrome individuals living with klinefelter syndrome have a y chromosome, and therefore their gonads develop into testes. Harry klinefelter and his coworkers first described the combination of features that has come to be recognized as klinefelter syndrome. It is a condition in boys caused by the presence of an extra x chromosome. This file is licensed under the creative commons attributionshare alike 3.
Chromosomes are carriers of dna, the hereditary material. Klinefelter syndrome ks is a common genetic condition affecting one in 450 men, but is only diagnosed in fewer than half of those affected. Enable javascript to view the expandcollapse boxes. The extra x chromosome can affect physical, developmental, behavioral, and cognitive functioning. Normally, males have one x chromosome in their cells. Jan 24, 20 i drank celery juice for 7 days and this is what happened no juicer required. The booklet is written primarily for parents and carers of boys with klinefelter syndrome.
A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for klinefelter syndrome. Klinefelter syndrome is the presence of two or more x chromosomes plus one y, resulting in a phenotypic male. Boys normally have one x and one y chromosome, but most boys with klinefelter syndrome have two x and one y chromosome. It is also a guide to available treatments for some of these problems. For language access assistance, contact the ncats public information officer. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women.
Klinefelter syndrome ks with the karyotype 47,xxy is one of the commonest types of congenital chro mosomal disorder in males, with an incidence of 0. It occurs if you are born with an extra x chromosome. It is a sex chromosome variation that occurs in 1 in 500 males. Klinefelter syndrome genetic and rare diseases information. Klinefelter syndrome, 48, xxyy, arterial obstruction. Klinefelter syndrome ks is a sex chromosomal anomaly, which in most cases is characterized by 47 chromosomes instead of the usual 46. Klinefelter syndrome specific cognitive deficits in language comprehension and executive functioning are part of the klinefelter syndrome phenotype. Variation in clinical presentation and insufficient awareness of this. Health, general klinefelter syndrome care and treatment diagnosis genetic aspects research risk factors klinefelters syndrome puberty sex chromosomes physiological aspects. Apr 29, 20 diagnosing klinefelter syndromethe greatest chances to make klinefeltersdiagnosing are in following times of life. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of patients remain undetected. Typical clinical features of klinefelter syndrome are various degrees of hypogonadal symptoms.
I drank celery juice for 7 days and this is what happened no juicer required. Adolescent treated with implants of controlled release testosterone, has shown good results when appropriately monitored. Klinefelter syndrome definition, symptoms, treatment. Affected males carry an additional x chromosome, which results in male hypogonadism, androgen deficiency, and impaired spermatogenesis. Feb 14, 2018 klinefelter syndrome ks is a condition that occurs in males when they have an extra x chromosome. For males in which klinefelter syndrome is suspected, aspecial blood test is recommended to confirm theklinefelter syndrome diagnosis. If you have problems viewing pdf files, download the latest version of adobe reader. Syndrome definition in medicine and psychology, a syndrome is the association of several clinically recognizable features, signs observed by someone other than the patient, symptoms reported by the patient, phenomena or characteristics that often occur together, so that the presence of one or more. Klinefelter sendromu turkish journal of endocrinology and. If the file has been modified from its original state, some details may not fully reflect the modified file. Klinefelter syndrome 47,xxy was first described 70 years ago.
Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Some patients may exhibit all of the classic signs of this disorder, including gynecomastia, small. By the late 1950s, researchers discovered that men with this group of. Most men with klinefelter syndrome will be taller than average and have infertility. Klinik ozelliklerinin degisiklik gostermesi ve bu sendromun hekimler taraf. Klinefelter syndrome results when a boy is born with at least 1 extra x chromosome. Hakan demirci 1, metin arif, ali topak2, cetin turan3, ali riza turkoglu4, koray ayar5, ibrahim taymur3 abstract aim. It is relatively common, occurring in about 1 of every 500 baby. The aim, in this case, is to report a patient with klinefelters syndrome, living in a rural area, at an advanced age having bipolar disorder. Klinefelter syndrome university of kansas medical center. Print a pdf of all klinefelter syndrome information. The association for x and y chromosome variations offers helpful information for healthcare professionals and materials for them to provide to patients. Children with klinefelter syndrome tend to do better at school when they are in a small classroom.
Pdf klinefelter syndrome is the most common sex chromosome disorder in males. Men with klinefelter syndrome have an extra x chromosome. The commonest form of hypogonadism, but often overlooked or untreated eberhard nieschlag. Klinefelter syndrome ks is a condition that occurs in men who have an extra x chromosome. See more ideas about klinefelter syndrome, syndrome, chromosome. Learn more about the causes, symptoms, and treatment of klinefelter syndrome. It can cause a variety of problems, including a small penis, small testes and infertility. Files are available under licenses specified on their description page. Some males with ks have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Review article klinefelter syndrome the commonest form of hypogonadism, but often overlooked or untreated eberhard nieschlag summary background. It is relatively common, occurring in about 1 of every 500 baby boys. Klinefelter sendromu ilk tanmlanan kromozom anomalisi olup temel olarak hipergonadotropik hipogonadizm ve onukoid vucut yaps ile karakterizedir. Symptoms vary depending on the period of the age of the patients.
Klinefelter syndrome is the most common cause of male infertility. Often, symptoms may be subtle and many people do not realize they are affected. The existing literature suggests that those with ks would be best served by multidisciplinary and coordinated health care 20,27,29,32 supported by more training and education for hcps 14. The american association for klinefelter syndrome information and support also offers brochures targeted to healthcare providers as well as families and patients.
Klinefelter syndrome ks is a condition that occurs in males when they have an extra x chromosome. Klinefelter syndrome is the most common sex chromosome disorder in males. Zowel weke als vaste testisconsistentie op volwassen leeftijd komt voor. The normal male chromosome arrangement is 46xy, but for men with klinefelter syndrome it is 47xxy. Some of us identify ourselves with being men, women, trans or intersex, we no longer want to be placed into boxes so we are getting away. Klinefelter syndrome is the most common sex chromosome disorder. In patients with klinefelter syndrome, it has been shown that there is a mild increase in serum estradiol levels.
The medical community is getting away from putting labels on us as men with klinefelter syndrome. Klinefelter sendromu gibi testislerin anormal gelisimine sebep olan kosullar testis kanseri riskinizi art. Untreated patients show a significant increase of fatigue and reluctance as well as increased irritability and aggressiveness in patients with klinefelter syndrome. It is true that many boys with klinefelters syndrome go on to lead quite normal lives, many are unaware that klinefelters syndrome exists, but it seems that all could have had a better experience of school if the appropriate conditions were in place. Australia australian klinefelter support group 4 victoria rd acquire fields new 02564 australia 026052837. Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males.
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