People with this condition are born with at least one extra x chromosome. Oct 24, 2006 the term klinefelter syndrome ks describes a group of chromosomal disorder in which there is at least one extra x chromosome to a normal male karyotype, 46,xy. Klinefelters syndrome ks is the most common sex chromosomal aberration among men, with estimated prevalence of about 1 in 500 newborn males. Gejala sindrom klinefelter dapat sulit terlihat dan banyak orang tidak menyadari bahwa mereka memiliki gejala tersebut. Sindrom down adalah suatu kondisi dimana terdapat tambahan kromosom pada kromosom 21 atau dikenal juga dengan istilah trisomi 21 yang menyebabkan keterlambatan perkembangan fisik, ketidakmampuan belajar, penyakit jantung, tanda awal alzeimer, dan leukimia. Nov 01, 2012 klinefelter syndromea clinical update j clin endocrinol metab, january 20, 981. Faktor risiko sindrom klinefelter sebetulnya tidak ada pemicu tertentu akan penyakit ini. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,xxyy and 48,xxxy.
Because symptoms of klinefelter syndrome ks can sometimes be very mild, many people are never diagnosed or treated. The estimated prevalence is one in 500 to one in males but due to the widely variable and often aspecific features, only one in four cases are recognized. It is relatively common, occurring in about 1 of every 500 baby. A guide for families and individuals afiected by x and y chromosome variations. Klinefelter syndrome is the presence of an extra x chromosome in a male. The clinical phenotype of ks was first described in. Pdf sindrom klinefelter sk merupakan kelainan akibat adanya kromosom seks tambahan 47,xxy yang menyebabkan hipergonadotropik hipogonadisme, dan.
Adolescent treated with implants of controlled release testosterone, has shown good results when appropriately monitored. Klinefelters syndrome is the clinical result of an additional x chromosome in males 47,xxy, although other chromosome abnormalities such as 46,xy47,xxy mosaicism. Sindrom klinefelter merupakan kelainan kromosom seks yang paling banyak terjadi. Klinefelter sindrom adalah kondisi yang dialami oleh individu lelaki yang mempunyai lebih daripada satu kromosomx gambarajah 1. Efek sindrom klinefelter bervariasi dan tidak semua orang memiliki tanda dan gejala yang sama. Klinefelter syndrome is a genetic abnormality that is common with males. Klinefelter syndrome sometimes called klinefelters, ks or xxy is where boys and men are born with an extra x chromosome. Sindromul klinefelter este o tulburare genetica ce afecteaza sexul masculin.
Sindrom klinefelter pengertian, faktor risiko, penyebab. It is a sex chromosome variation that occurs in 1 in 500 males. 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. Ks patients have an increased risk of cerebrovascular disease standardized mortality ratio, smr, 2. Intellectual impairment andor neuropsychiatric disorder are present in many cases. The risk of having a child with klinefelters syndrome is slightly increased for older mothers. Henry klinefelter, yang pertama kali menggambarkan sekelompok gejala yang ditemukan pada beberapa pria dengan kromosom x yang lebih. Sindrom klinefelter terhitung 3% menjadi penyebab infertiltas pada pria dengan oligospermia atau azoospremia 510 persen. Sebagian kecil penderita klinefelter dapat tetap fertil dan memiliki keturunan karena adanya mosaiksisme mosaicism, yaitu adanya campuran sel normal dan sel klinelfelter sehingga sel normal tetap. Instead of having the usual xy chromosome pattern that most males have, these men have an xxy pattern. Namun dalam10 tahun terakhir, dengan perkembangan teknik reproduksi artifisial dan keberhasilan kelahiran anak yang sehat dari seorang ayah yang menderita sindrom klinefelter, keterlibatan ahli urologi dalam. Of particular interest at that time was the association of primary hypogonadism with.
Klinefelter syndrome ks, also known as 47, xxy is the set of symptoms that result from two or more x chromosomes in males. Xxy definition klinefelter syndrome is a chromosomal disorder that affects only males. Apr 20, 2010 klinefelter syndrome is a chromosomal abnormality characterized in 80% of cases by a set of chromosomes 47 xxy and 20% from xxxy karyotype, xxyy or frameworks such as mosaicism 47xxy46xx, 47xxy46xy, etc. The classical phenotype of ks is widely recognized, but many affected subjects present only very mild signs. Sindrom klinefelter gejala sindrom klinefelter dan. Klinefelters syndrome is the most common genetic cause of male hypogonadism, occurring with a frequency of one. By continuing to use our website, you are agreeing to our use of cookies. Gengen ini memberikan arahan terperinci dan spesifik kepada tubuh badan untuk pembentukan karakter serta fungsi. Klinefelter syndrome is a chromosomal condition first described by dr harry.
Klinefelter syndrome the journal of clinical endocrinology. Xxy aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Acta androgen aneuploidy associated bandmann e breit barr barr bodies basal biopsy bone formation boys with klinefelter s breast cancer chromatinpositive chromosome anomaly clin endocrinol metab clinical controls cytogenetic decreased dermatoglyphic diagnosis drome effect estrogen eunuchoid excretion f x sw felters syndrome female ferguson. Diagnosing klinefelter syndromethe greatest chances to make klinefeltersdiagnosing are in following times of life. Padahal normalnya, seorang laki laki akan memiliki kromosom seks xy, sehingga seorang laki laki yang menderita sindrom ini akan memiliki kromosom seks berupa xxy.
There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. The syndrome can affect different stages of physical, language, and social development. Boys may be taller than other boys their age, with more fat around the belly. Hypogonadism can be subdivided into 3 general categories. 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. May 23, 2017 klinefelter syndrome is one of the most common chromosome conditions in newborns. Klinefelter syndrome, also known as xxy syndrome, is a condition in boys and men thats caused by an extra x chromosome.
The syndrome was first identified and described in 1942 by. Health problems handled by doctors can now be accessed by anyone through the computer, one of them with the development of expert system, the work of doctors facilitated. Klinefelter syndrome ks is a sex chromosomal anomaly, which in most cases is characterized by 47 chromosomes instead of the usual 46. Pogosto so simptomi lahko da prikriti in mnogi ljudje ne vedo, da so prizadeti. Dimana kelainan tersebut adalah dimana seorang laki laki memilki kelebihan kromosom x. It is estimated that 1 in every 500 may have the syndrome. Klinefelter syndrome is one of the most common chromosomal disorders, occurring in 1. Chromosomes contain all of your genes and dna, the building blocks of the body. Secara umum, berat ringannnya malformasi pada sindrom klinefelter tergantung jumlah kromosom x. Normally, males have one x chromosome in their cells. Klinefelter syndrome ks is the result of 2 or more x chromosomes in a phenotypic male. Gejala sindrom klinefelter dapat berbeda sesuai dengan tahapan usia seseorang. Xxy males have an increased risk for breast cancer and cancers that affect blood, bone.
Xxy males have an increased risk for breast cancer and cancers that affect blood, bone marrow, or lymph nodes, such as leukemia. Klinefelterov sindrom, poznatiji i kao 47 xxy sindrom ili prostije xxy sindrom nastaje kao posledica viska kopije x hromozoma kod muskaraca, te ove osobe umesto redovnih 46 xy imaju 47 xxy. To investigate the criminal pattern in men between 15 and 70 years of age diagnosed with 47,xxy klinefelter s syndrome ks or 47,xyy compared to the general population. Boys normally have one x and one y chromosome, but most boys with klinefelter syndrome have two x and one y chromosome. Before or shortly after birth early childhood adolescence adulthood. Other symptoms include erectile dysfunction, osteoporosis, language and learning impairment and behavioral problems. Klinefelterjev sindrom wikipedija, prosta enciklopedija. Gejala utama sindrom ini adalah infertilitas dan ukuran testis yang kecil. Klinefelter syndrome and other sex chromosomal aneuploidies. The 2 sex chromosomes x and y determine if you become a boy or a girl. Sindrom klinefelter adalah kelainan genetik pada lakilaki yang diakibatkan oleh kelebihan kromosom x.
Print a pdf of all klinefelter syndrome information. Sindrom down, sindrom turner, sindrom klinefelter youtube. Apr 29, 20 diagnosing klinefelter syndromethe greatest chances to make klinefeltersdiagnosing are in following times of life. Sindrom klinefelter sindrom klinefelter kali pertama ditemukan oleh h. Ks can cause a variety of problems including breast development, infertility, and hormonal changes. Klinefelter syndrome ks is a common genetic condition, affecting one in 450 men.
In cazuri rare, unii barbati pot avea trei sau patru cromozomi x, sau mai multi cromozomi y. Penampilan pasien sk hampir tidak berbeda dengan mereka yang berkariotip normal, tanpa gejala klinis yang khas selama masa anak, sehingga diagnosis ditegakkan setelah usia remaja atau. Sindromul klinefelter, boala genetica specific masculina. Banyaknya media membicarakan gejala sindrom klinefelter dan pengobatannya ini berawal dari adanya kasus tuntutan yang dilayangkan oleh keluarga jane deviyanti kepada alterina hofnan karena dituduh memalsukan identitas kelaminnya. Retardasi mental dan hipogonadisme lebih berat terjadi pada pasien dengan kariotip 49,xxxxy dibandingkan dengan 48,xxxy. 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. Feb 14, 2018 klinefelter syndrome ks is a condition that occurs in males when they have an extra x chromosome. Living with klinefelter syndrome 47,xxy trisomy x genetic org. Meskipun semua pria dengan sindrom klinefelter memiliki kromosom x ekstra,tapi tidak setiap lakilaki dengan kromosom xxy akan memperlihatkan gejala tersebut. Sindrom klinefelter ks, juga dikenal sebagai 47,xxy atau sindrom xxy, adalah sekumpulan gejala yang disebabkan oleh dua atau lebih kromosom x pada lakilaki. Sindrom ini kadangkadang dapat diturunkan dari ayah penderita klinefelter ke anaknya, oleh karena itu perlu dilakukan deteksi sebelumkelahiran.
Chromosomes are packages of genes found in every cell in the body. In some cases, the features of the condition are so mild that. Klinefelter syndrome klinefelter syndrome posted 21405 key points genetics klinefelter syndrome should be considered in boys with gynecomastia or hypogonadism. Penatalaksanaan sindrom klinefelter catatan urologi. The extra x chromosome can affect physical, developmental, behavioral, and cognitive functioning. 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. Most commonly, affected individuals are taller than average are unable to father biological children infertile. Klinefelter syndrome ks is the result of sex chromosome aneuploidy. Klinefelter syndrome ks is caused by a difference in the sex chromosomes xxy. Klinefelterov sindrom uzroci, simptomi i lijecenje. This condition is associated with much comorbidity and with a lower life expectancy.
Drugs used to treat klinefelter syndrome the following list of medications are in some way related to, or used in the treatment of this condition. Sindrom klinefelter gejala, penyebab dan mengobati. Kromosom seks akan menentukan jenis kelamin seseorang. Men with klinefelter syndrome have an extra x chromosome. Review article klinefelter syndrome the commonest form of hypogonadism, but often overlooked or untreated eberhard nieschlag summary background. Following the 1st international workshop on the klinefelter syndrome in 2010 juul et al. Variants of the disease with three, four, or more extra. Harry klinefelter and his coworkers first described the combination of features that has come to be recognized as klinefelter syndrome. Sometimes, symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less.
Sindrom klinefelter adalah kelainan genetik yang disebabkan oleh adanya salinan kromosom x tambahan. Klinefelter syndrome genetic and rare diseases information. List of klinefelter syndrome medications 1 compared. It is a condition in boys caused by the presence of an extra x chromosome. Abnormalitas kromosom yang terjadi pada sindrom klinefelter berkaitan dengan kromosom seks x dan y. Psychiatric aspects of klinefelters syndrome american.
Dalam kes yang jarang berlaku ini, ada lelaki sindrom klinefelter yang memiliki tiga atau empat kromosom x atau satu atau lebih kromosom y. Sindrom klinefelter merupakan salah satu macam macam sindrom dari kelainan kromosom pada manusia. Purpose the purpose of this study is to summarize new data on etiology and clinical features of klinefelter syndrome in order to derive research priorities. Pod normalnim okolnostima, ljudski organizam sadrzi 46 hromozoma, po 23. Kondisi ini disebabkan adanya kromosom x tambahan pada lakilaki 47, xxy. Klinefelter syndrome is a genetic condition that occurs in males when they have an extra x chromosome. Akibatnya, lakilaki yang dilahirkan dengan kondisi ini akan memiliki beberapa karakteristik perempuan. Naziv je dobio po americkom endokrinologu hariju klinefelteru, koji je. Sindrom ini juga dapat menyebabkan berkurangnya massa otot, berkurangnya rambut tubuh dan wajah, dan pembesaran jaringan payudara. Sindrom ini disebabkan oleh adanya gagal berpisah pada kromos. Klinefelter syndrome is the most common chromosome abnormality in humans. Please use one of the following formats to cite this article in your essay, paper or report. Some of the symptoms include less facial hair than is normal, broader hips that are typical of women, larger breast than other males, weaker bones and lower energy levels as compared to other males. 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.
During the program, talks were presented by leading researchers in the field followed by lively discussions among the 120. Sindrom klinefelter sekarang sedang hangathangatnya dibicarakan di berbagai media, khususnya media online. Some males with ks have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Terdapat ciriciri sindrom klinefelter yang mungkin dapat dideteksi sejak bayi, tapi terdapat juga banyak kasus di mana ciriciri penderita sindrom klinefelter baru. Some males with ks have learning and language problems. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. Klinefelter syndrome nord national organization for rare. The syndrome was first identified and described in 1942 by harry fitch klinefelter jr. It affects between 1 in 500 and 1 in 1,000 newborn males. Kebanyakkan lelaki dengan lebihan kromosom x tidak menyedarinya dan menjalani kehidupan dengan normal. Sebagian besar pria dengan sindrom klinefelter memproduksi sperma dalam jumlah yang sedikit, atau tidak sama sekali.
In addition, if one child has klinefelters syndrome, there is a slightly increased risk for future children 1 in 100. The primary features are infertility and small poorly functioning testicles. Klinefelter syndrome is the most common cause of male infertility. Klinefelterjev sindrom ks, znan tudi kot 47,xxy ali xxy, je skupek simptomov, katerih vzrok je vec kot en kromosom x pri moskih. The diagnosis of klinefelter syndrome will lead to the initiation of testosterone replacement therapy and may help facilitate access to appropriate educational resources. Klinefelter s syndrome is a chromosomal abnormality resulting in hypogonadism. Klinefelter syndrome ks is a condition that occurs in men who have an extra x chromosome. Generalitati sindromul klinefelter este o tulburare genetica ce afecteaza sexul masculin. Common physical features may include tall stature, reduced muscle tone, small testes. Klinefelter syndrome ks is one of the most common genetic causes of male infertility. Namun, risiko anak lahir dengan sindrom klinefelter dapat meningkat sedikit pada ibu hamil yang berusia di atas 35 tahun. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Klinefelter syndrome is a genetic disorder associated with male hypogonadism, gynecomastia and reduced fertility. It is congenital, which means it is present from birth.
Klinefelter syndrome can lead to weak bones osteoporosis, varicose veins, and autoimmune diseases when the immune system acts against the body, such as lupus or rheumatoid arthritis. Sindrom klinefelter sk merupakan kelainan akibat adanya kromosom seks tambahan 47,xxy yang menyebabkan hipergonadotropik hipogonadisme, dan infertilitas. Vcasih so simptomi vidnejsi in lahko vkljucujejo sibkejse misice, vecjo visino, slabo koordinacijo, manj dlak po telesu, manjsa. An average of 42 members are effected every year in finland. For males in which klinefelter syndrome is suspected, aspecial blood test is recommended to confirm theklinefelter syndrome diagnosis.
By the late 1950s, researchers discovered that men with this group of. Klinefelter syndrome gets its name from a publication in 1942 by klinefelter, reifenstein, and albright describing a series of patients with gynecomastia, small testes, aspermatogenesis, androgen deficiency, and increased levels of follicle stimulating hormone. Kromosom terdapat didalam selsel tubuh manusia yang mengandungi gengen. Mosaikisme dapat diartikan sebagai adanya dua atau lebih garis keturunan pada satu individu atau dalam jaringan yang berbeda dalam konstitusi. Klinefelter syndrome ks is a common genetic condition affecting one in 450 men, but is only diagnosed in fewer than half of those affected. Klinefelter syndrome an overview sciencedirect topics. Penderia klinefelter dengan kromosom xxy pada manusia.
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