Sindrom ini kadangkadang dapat diturunkan dari ayah penderita klinefelter ke anaknya, oleh karena itu perlu dilakukan deteksi sebelumkelahiran. Sindrom klinefelter sk merupakan kelainan akibat adanya kromosom seks tambahan 47,xxy yang menyebabkan hipergonadotropik hipogonadisme, dan. Klinefelter syndrome is one of the most common chromosome conditions in newborns. Klinefelter syndrome 47,xxy was first described 70 years ago 1. 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. Criminality in men with klinefelters syndrome and xyy syndrome. May 23, 2017 klinefelter syndrome is one of the most common chromosome conditions in newborns. Klinefelter syndrome comorbidities linked to increased x. I never refer to newborn babies as having klinefelter s, because they dont have a syndrome, said arthur robinson, m.
A case of klinefelter syndrome and gender dysphoria. Boys may be taller than other boys their age, with more fat around the belly. Children with klinefelter syndrome seem to be at risk for. Ks has a genetic background, with characteristics involving numerous. Klinefelter syndromea clinical update the journal of. Klinefelter syndrome behavioral phenotypes in a study by bruining, et al. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,xxyy and 48,xxxy.
Sindrom klinefelter wikipedia bahasa indonesia, ensiklopedia bebas. There is no cure for this condition and it requires lifelong management. The extra x chromosomes are maternally derived in 60% of cases. Disorders of sex development are estimated to be prevalent in 0. Klinefelter syndrome ks is the most common chromosomal aberration in men. He experienced physical and psychological ill effects until rediagnosis 46 years later is my life a lie. 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 ks is a condition that occurs in men who have an extra x chromosome. 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. I never refer to newborn babies as having klinefelters, because they dont have a syndrome, said arthur robinson, m.
In 1959, patricia jacobs identified that men who had klinefelters syndrome had a chromosome pattern, or karyotype, 47,xxy or often referred to as xxy. Klinefelter syndrome and other sex chromosomal aneuploidies. The syndrome can affect different stages of physical, language, and social development. Kromosom seks akan menentukan jenis kelamin seseorang. Perempuan yang normal memiliki pola kromosom 46, xx. Handbook of genetic counselingklinefelter syndrome.
Pdf criminality in men with klinefelters syndrome and xyy. Pada sindrom klinefelter terjadi gagal pisah pada pria dan atau wanita. A cohort study article pdf available in bmj open 21. Klinefelters syndromea diagnosis mislaid for 46 years the bmj. Xxy aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Of particular interest at that time was the association of primary hypogonadism with. Is having klinefelter syndrome one of the reasons for having. It occurs because of a random additional chromosome in the egg, sperm, or fetus.
Syok kardiogenik dapat disebabkan oleh sindrom koroner akut dan komplikasi. Klinefelter syndrome, 47,xxy ks, occurs in about 150 per 100,000 males and is the most frequent chromosomal aberration in males. Rather than the usual pattern of 46 chromosomes, with one x chromosome and one y chromosome, there is an additional x chromosome, resulting in a genetic signature of 47,xxy. Zaninovich 1964 studied a 33yearold hypogonadal patient with chroma tinnegative cells and diabetes mellitus. Klinefelter syndrome an overview sciencedirect topics. Klinefelter syndrome is a genetic disorder of the chromosomes affecting males. Three main clinical signs should suggest the diagnosis in a child. Because klinefelter syndrome is a genetic disorder, it cannot be prevented.
The patient also suffered from poly cytaemia vera and high blood pressure. 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. Adolescent treated with implants of controlled release testosterone, has shown good results when appropriately monitored. 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. Klinefelter syndrome ks is a common genetic condition that is currently underdiagnosed. Sindrom sheehan adalah kondisi ketika kelenjar pituitari atau hipofisis mengalami kerusakan saat melahirkan. At publication, there are no government grants available specifically. This group of symptoms, which include gynecomastia, increased height, sparse facial and body hair, reduced sperm count, and diminutive testicular size, was originally observed in nine patients by.
The author presents a rare case of klinefelter syndrome in a transgender maletofemale seeking sexual reassignment surgery. See more ideas about psychology disorders, edwards syndrome and x chromosome. Gejala utama sindrom ini adalah infertilitas dan ukuran testis yang kecil. Sindrom klinefelter adalah penyakit kelainan genetik yang diidap oleh lakilaki akibat kromosom x tambahan. The more x chromosomes a boy with klinefelter, the more severe the symptoms, but the most common type of xxy is. 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 ks is a common genetic condition, affecting one in 450 men. Variants of the disease with three, four, or more extra. Sindrom klinefelter ks, juga dikenal sebagai 47,xxy atau sindrom xxy, adalah sekumpulan gejala yang disebabkan oleh dua atau lebih kromosom x pada lakilaki. Sementara lakilaki yang normal memiliki pola 46, xy. Germ cells do not survive in the testes, leading to decreased sperm and androgens. Klinefelters syndrome ks is the constellation of symptoms associated with an extra sex chromosome, the 47, xxy karotype, compared to the usual male configuration, xy. Klinefelter syndrome is one of the most common chromosomal disorders, occurring in 1.
Genetic counseling issues for klinefelter syndrome and other sex chromosome abnormalities. It now known that some men who have the symptoms of klinefelters syndrome have the 46,xy karyotype ie no extra chromosome. 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. Klinefelter syndrome nord national organization for rare.
Sindrom klinefelter gejala, penyebab dan mengobati. Kondisi ini mengakibatkan kariotip 47,xyy dan dapat ditemui dalam 1 dari 1. Klinefelter syndrome is one example of a sex development genetic disorder due to the. Most boys with klinefelter syndrome have normal intelligence. This syndrome is the most common sexchromosome disorder affecting 1 in 500 men across all ethnic groups, but the diagnosis is often delayed because. Klinefelter s syndrome ks is the constellation of symptoms associated with an extra sex chromosome, the 47, xxy karotype, compared to the usual male configuration, xy. There are four types of klinefelter, xxy, xxxy, xxxxy and mosaic xyxxy, listed in order of rarity.
Angka kejadian sindrom klinefelter di dunia berkisar antara 1 dalam 500 anak lakilaki. It was first described in 1942, with a number of additional conditions, characteristics, and abnormalities described in later publications. Jika yang gagal berpisah adalah kromosom seks dari pria maka gamet yang ia sumbangkan memiliki kromosom seks xy yang nantinya akan menyatu dengan kromosom x dari wanita dalam proses pembuahan sehingga yang terjadi adalah bentuk abnormal 47,xxy bentuk ini adalah bentuk yang umumnya terjadi pada sindrom klinefelter seperti. A case of klinefelter syndrome and gender dysphoria yara w. Sindrom xyy adalah suatu kondisi genetik ketika seorang lakilaki memiliki kromosom y tambahan, sehingga secara keseluruhan memiliki 47 kromosom. Government grants for people with klinefelters pocketsense. Klinefelter syndrome occurs in about 1 in 500 to 1 in 1,000 boys. Kelenjar hipofisis adalah kelenjar kecil yang terletak di bawah otak. 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 that occurs in males of all racial and ethnic backgrounds.
Common physical features may include tall stature, reduced muscle tone, small testes. Klinefelter syndrome is the most common sex chromosome disorder, occurring in about 1500 live male births. Klinefelter syndrome klinefelter syndrome posted 21405 key points genetics klinefelter syndrome should be considered as a possible diagnosis among adult men. 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. It affects sexual development and may lead to learning disabilities. Sindrom klinefelter pengertian, faktor risiko, penyebab, gejala. Klinefelters syndrome klinefelters syndrome is the most common cause of testicular failure that results in impairments in both spermatogenesis andto a lesser extenttestosterone production. The patient was initially diagnosed in 1959 at the age of 14 years, but never informed of the diagnosis. Sindrom sheehan gejala, penyebab dan mengobati alodokter. Klinefelters syndrome or xxy klinefelters syndrome. Sindromul klinefelter este o tulburare genetica ce afecteaza sexul masculin.
Klinefelter syndrome is not easy to diagnose in childhood because of the absence of significant manifestations before puberty. 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. 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 ks is a condition that occurs in males when they have an extra x chromosome.
Klinefelter syndrome can be diagnosed using genetic testing prenatally or later. The primary features are infertility and small poorly functioning testicles. The information in this outline was last updated in 2002. An average of 42 members are effected every year in finland. Genetic disorders and associated behavioral phenotypes.
I had just had my diagnosis of klinefelters syndrome confirmed. It results from an unequal sharing of sex chromosomes soon after fertilization. The complexity of this case stems from the unusual presentation of a genetic disorder, classically encountered in males. Learn more about the causes, symptoms, and treatment of klinefelter syndrome. Sindrom klinefelter ks, juga dikenal sebagai 47,xxy atau sindrom xxy, adalah sekumpulan gejala sindrom yang disebabkan oleh dua atau lebih kromosom. It affects between 1 in 500 and 1 in 1,000 newborn males. 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. View klinefelter syndrome research papers on academia.
Sindrom xyy wikipedia bahasa indonesia, ensiklopedia bebas. The varied manifestations of the mental symptoms in some of them, that are inexplicable based on their genotype alone, has fascinated the researchers. Klinefelters syndrome is a sex chromosome abnormality with low androgen level. Pdf sindrom klinefelter sk merupakan kelainan akibat adanya kromosom seks tambahan 47,xxy yang menyebabkan hipergonadotropik hipogonadisme, dan. Im a parent of a diagnosed child the association for x and. Klinefelter syndrome klinefelter syndrome posted 21405 key points genetics klinefelter syndrome should be considered as a possible diagnosis among adult men with hypogonadism, infertility, andor low libido. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with. Kromosom x tambahan ini mengganggu perkembangan seksual pria normal dalam rahim dan pada masa pubertas. This group of symptoms, which include gynecomastia, increased height, sparse facial and body hair, reduced sperm count, and diminutive testicular size, was originally observed in nine. Klinefelter syndrome genetic and rare diseases information. Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. The extra x chromosome can affect physical, developmental, behavioral, and cognitive functioning.
Klinefelters syndrome mosaic with chromosome 9 inv and. The phenotype is broad, with physical, medical and psychosocial features ranging from mild to severe. Klinefelter syndrome ks 47,xxy is the most common male sex. 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 now known that some men who have the symptoms of klinefelters syndrome. Sindrom klinefelter sk merupakan kelainan kromosom seks yang paling banyak terjadi, disebabkan adanya kromosom x tambahan pada lakilaki 47, xxy. This was my reply in may 2006 when i was asked, how do you feel at this moment. Penyebab sindrom klinefelter adalah cacat dalam kromosom seks. Hal tersebut dipicu oleh perdarahan hebat atau tekanan darah yang sangat rendah selama atau setelah melahirkan. Orang dengan sindrom klinefelter akan mengalami kegagalan perkembangan testis, akibat hipogonadisme dan gangguan spermatogenesis. Klinefelter s syndrome is a sex chromosome abnormality with low androgen level. Sindrom klinefelter gejala, penyebab dan mengobati alodokter. Mar 23, 2011 klinefelter syndrome is not easy to diagnose in childhood because of the absence of significant manifestations before puberty. We present a patient with klinefelter syndrome and short stature due to growth hormone deficiency.
Review article klinefelter syndrome the commonest form of hypogonadism, but often overlooked or untreated eberhard nieschlag summary background. Klinefelter syndrome ks with the karyotype 47,xxy is one of the commonest types of congenital chromosomal disorder in males, with an. See more ideas about klinefelter syndrome, syndrome, chromosome. Sindrom klinefelter adalah kelainan genetik yang disebabkan oleh adanya salinan kromosom x tambahan. Sindrom klinefelter hanya dialami oleh pria, di mana penderita mengalamu kelebihan kromosom x dan menjadi xxy. Sindromul klinefelter, boala genetica specific masculina. Klinefelter syndrome, 47,xxy, or xxy syndrome is a condition where human males have an extra x chromosome males normally have a chromosomal makeup of xy, but an affected individual with klinefelter syndrome will have at least two x chromosomes and at least one y chromosome. Sindrom klinefelter gejala, diagnosis, pengobatan sehatq. Gejala sindrom klinefelter dapat sulit terlihat dan banyak orang tidak menyadari bahwa mereka memiliki gejala tersebut. Do you know sindrom klinefelter merupakan suatu kelainan.