Klinefelter syndrome klinefelter syndrome is suspected in males with developmental delay, hypogonadism, gynecomastia, or infertility. Klinefelter syndrome is a chromosomal condition first described by dr harry klinefelter of boston. Are there studies with ideas of how i could lose the extra weight. In 1959, these men with klinefelter syndrome ks were discov ered to have an extra x chromosome genotype xxy instead of the usual male. Klinik ozelliklerinin degisiklik gostermesi ve bu sendromun hekimler tarafindan farkindaliginin yetersizligi neticesinde hastalann %50sinden fazlasi tanisiz kalmaktadir klinefelter sendromunun tipik klinik ozellikleri farkli seviyelerde hipogonadizm bulgulan, atrofik testisler ve jinekomastidir. The syndrome was first identified and described in 1942 by harry fitch klinefelter, jr. Permission is granted to copy, distribute andor modify this document under the terms of the gnu free documentation license, version 1. Review article klinefelter syndrome the commonest form of hypogonadism, but often overlooked or untreated eberhard nieschlag summary background. When a diagnosis is made, treatment is based on the signs and symptoms present in each person, especially the problems related to hypogonadism, gynecomastia, and psychosocial problems. Klinik ozelliklerinin degisiklik gostermesi ve bu sendromun.
A danish register study based on hospital discharge diagnoses. You may do so in any reasonable manner, but not in. Klinefelter syndrome article about klinefelter syndrome by. People with this condition are born with at least one extra x chromosome. Pdf klinefelter syndromea clinical update researchgate. Press question mark to learn the rest of the keyboard shortcuts. Feb 14, 2018 klinefelter syndrome ks is a condition that occurs in males when they have an extra x chromosome. Klinefelter syndrome is a genetic condition affecting males. Klinefelter syndrome definition klinefelter syndrome is a chromosomal disorder that affects only males. The designation klinefelter syndrome is a clinical char. 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. It can cause a variety of problems, including a small penis, small testes and infertility. If you have problems viewing pdf files, download the latest version of adobe reader for language access assistance, contact the ncats public information officer genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree.
The american association for klinefelter syndrome information and support also offers brochures targeted to healthcare providers as well as families and patients. Klinefelters syndrome klinefelters syndrome is the most common cause of testicular failure that results in impairments in both spermatogenesis andto a lesser extenttestosterone production. Klinefelter syndrome also known as 47,xxy or xxy, is the set of symptoms that result from two or more x chromosomes in males. Dec 17, 2015 created using powtoon free sign up at create animated videos and animated presentations for free. If the file has been modified from its original state, some details such as the timestamp may not fully reflect those of the original file. Klinefelter syndrome usually is not diagnosed until the time of puberty. Those with the klinefelter syndrome may produce lower testosterone than required. Small testes 14 ml, about the size of a sultana grape after puberty are an indication of klinefelter syndrome in most cases. The association for x and y chromosome variations offers helpful information for healthcare professionals and materials for them to provide to patients. At this point, the boys testicles fail to grow and you may start to notice other symptoms. Klinefelter syndrome is a genetic condition that occurs in males when they have an extra x chromosome.
The primary features are infertility and small poorly functioning testicles. May 23, 2017 klinefelter syndrome is a genetic disease that causes males to be born with an extra copy of the x chromosome in their cells. Created using powtoon free sign up at create animated videos and animated presentations for free. They believed that the hypogonadism arose primarily from failure of the. By the late 1950s, researchers discovered that men with this group of. May 18, 2012 klinefelter syndrome hygiene habits duration. Help others answering the top 25 questions of klinefelter syndrome. Most men with klinefelter syndrome will be taller than average and have infertility. Klinefelter syndrome is a genetic disease that causes males to be born with an extra copy of the x chromosome in their cells. Klinefelter syndrome results when a boy is born with at least 1 extra x chromosome. Sometimes symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less body hair, smaller genitals, breast growth. Diagnosing klinefelter syndromethe greatest chances to make klinefeltersdiagnosing are in following times of life. This file is licensed under the creative commons attributionshare alike 3.
Klinefelter syndrome genetic and rare diseases information. Physical manifestations of klinefelter syndrome are relatively. Images on this site are freely available for download for personal, academic teaching or study use, under. Recent articles information about coronavirus, ks and the ksa. Klinefelter syndrome klinefelter syndrome posted 21405 key points genetics klinefelter syndrome should be considered in boys with gynecomastia or hypogonadism. Klinefelter syndrome article about klinefelter syndrome.
To find out if your son has klinefelter syndrome, your doctor will ask questions about his past health, do a physical examination, and order a chromosome test called a karyotype. Before or shortly after birth early childhood adolescence adulthood. I have klinefelter syndrome and i was wondering if weight gain is a common problem. The initial number of patients with klinefelter syndrome was increased by a certain number of firstdegree relatives including parents, brothers and sisters but only for adults. Klinefelter syndrome result from two or more x chromosome in males. The diagnosis of klinefelter syndrome will lead to the initiation of testosterone replacement therapy.
Klinefelters syndrome is the most common cause of testicular failure that results in impairments in both spermatogenesis andto a lesser extenttestosterone. If you have problems viewing pdf files, download the latest version of adobe reader. Some males with ks have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Klinefelter syndrome simple english wikipedia, the free. Nearly 70 years after its description, klinefelter syndrome ks remains a largely undiagnosed condition. Sometimes, symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less. The extra x chromosome can affect physical, developmental, behavioral, and cognitive functioning. Klinefelter syndrome ks is a common genetic condition affecting one in 450 men, but is only diagnosed in fewer than half of those affected. Consensus statement on diagnosis and clinical management of. Recently, new clinically important information regarding klinefelter syndrome ks has been published. Diagnosing klinefelter syndromethe greatest chances to make klinefelter sdiagnosing are in following times of life. Mar 29, 2016 this file contains additional information such as exif metadata which may have been added by the digital camera, scanner, or software program used to create or digitize it. Klinefelter s syndrome a human chromosomal abnormality in which there is an extra xchromosome making a complement of 44 autosomes plus xxy 47 in all.
Ozet klinefelter sendromu erkeklerde en sik gorulen seks kromozom bozuklugudur. Klinefelter syndrome is the most common sex chromosome disorder in males. The affected individuals are male showing the sex determination role of the ychromosomes but with much reduced fertility, and a number of female secondary sexual characteristics, such as. There are approximately 250,000 men with ks in the united states, and the prevalence of ks in male reproductive practices is 3 to 4%. Klinefelter syndrome definition of klinefelter syndrome. Often, symptoms may be subtle and many people do not realize they are affected. General information klinefelters syndrome association.
Klinefelter syndrome is a chromosomal illness suffered by male patients which is affecting their cognitive and physical development. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. It occurs if you are born with an extra x chromosome. We offer support and information to all affected by, or having an interest in, klinefelters syndrome. Apr 20, 2010 the initial number of patients with klinefelter syndrome was increased by a certain number of firstdegree relatives including parents, brothers and sisters but only for adults. Harry klinefelter and his coworkers first described the combination of features that has come to be recognized as klinefelter syndrome. Klinefelter syndrome synonyms, klinefelter syndrome pronunciation, klinefelter syndrome translation, english dictionary definition of klinefelter syndrome. This syndrome is the most common sexchromosome disorder affecting 1 in 500 men across all ethnic groups, but the diagnosis is often delayed because. The cephalometric analisys of 40 subjects with klinefelter syndrome, with an age range from 5 to 58 years, were selected. The impact of klinefelter syndrome on psychological functioning duration. A qualitative exploration of mothers and fathers experiences of having a child with klinefelter syndrome and the process of reaching this diagnosis. Klinefelters syndrome definition of klinefelters syndrome. A chromosomal anomaly with chromosome count 47, xxy sex chromosome constitution. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of.
Klinefelter syndrome is a condition in which one or more extra x chromosomes are present in a male. Klinefelter syndrome nord national organization for rare. Klinefelter syndrome syndrome in males that is characterized by small testes and long legs and enlarged breasts and reduced sperm production and. The impact of klinefelter syndrome on psychological functioning. Klinefelter syndrome nord national organization for. Klinefelter syndrome ks is a common genetic condition that is currently underdiagnosed. Klinefelter syndrome ks is a common disorder that affects 1 in 500 male patients and results in testicular failure, androgen deficiency, and impaired spermatogenesis. Because symptoms of klinefelter syndrome ks can sometimes be very mild, many people are never diagnosed or treated.
This is called as variants of klinefelter syndrome. Klinefelter syndrome ks, also known as 47, xxy is the set of symptoms that result from two or more x chromosomes in males. Sep 01, 20 ozet klinefelter sendromu erkeklerde en sik gorulen seks kromozom bozuklugudur. People who have klinefelter s syndrome are often called xxy males, or 47, xxy males. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. A diagnosis of klinefelter syndrome is confirmed using a blood test called a karyotype that checks the number and structure of chromosomes in cells. People who have klinefelters syndrome are often called xxy males, or 47, xxy males. Males with this condition have smallerthannormal testicles that. Pdf klinefelter syndrome is the most common sex chromosome disorder in males. Klinefelter syndrome congenital defects jama internal. Klinefelter syndrome, 47, xxy, or xxy syndrome is a genetic disorder where people have an extra number of x chromosomes. The phenotype is broad, with physical, medical and psychosocial features ranging from mild to severe. The 2 sex chromosomes x and y determine if you become a boy or a girl.
Endocrine and metabolic evaluation of classic klinefelter syndrome. Klinefelter syndrome definition of klinefelter syndrome by. Klinefelter syndrome is a form of primary testicular failure, with elevated gonadotropin levels due to lack of. Klinefelters syndrome definition, an abnormal condition in which at least one extra x chromosome is present in a male. Wattendorf, maj, mc, usaf, and maximilian muenke, m. The effects, clinical consequences, and treatment of testosterone deficiency in bone health.
Common physical features may include tall stature, reduced muscle tone, small testes. Klinefelter syndrome information mount sinai new york. Klinefelter syndrome top 25 questions klinefelter syndrome. Apart from 47,xxy there also 48,xxxy and 49,xxxxy types exist. Abstract klinefelter syndrome ks is one of the most. The symptoms of male patients suffering from klinefelter syndrome may vary. Klinefelter syndrome syndrome in males that is characterized by small testes and long legs and. Sometimes, symptoms are more prominent and may include weaker. Physical manifestations of klinefelter syndrome are relatively moderate compared with autosomal trisomies. They enter puberty normally, but by mid puberty have low levels of testosterone causing small testicles and the inability to make sperm. Recent years have seen the tide turning in the ways that boys with klinefelters syndrome ks have settled down at school, this is reflected in the statistics of the klinefelters syndrome association survey which pointed out that whilst virtually no adults had attended special schools as children, the figure had risen to around 1 in 3 by 1999. It is likely that many males with 47,xxy remain undiagnosed.
Information about coronavirus, ks and the ksa 22nd march 2020. Oct 22, 2014 klinefelter syndrome is a chromosomal illness suffered by male patients which is affecting their cognitive and physical development. For language access assistance, contact the ncats public information officer. 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. Chromosomes contain all of your genes and dna, the building blocks of the body. Apr 29, 20 diagnosing klinefelter syndromethe greatest chances to make klinefeltersdiagnosing are in following times of life. Klinefelter syndrome ks is the most common chromosomal aberration in men.
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