Klinefelter syndrome ks is the most common chromosomal aberration in men. Most commonly, affected individuals are taller than average are unable to father biological children infertile. Aberration alters the chromosome structure but do not involve a change in chromosome number. Pdf klinefelter s syndrome ks is the most common sexchromosome male disorder, characterized by one or more extra x chromosomes. Objective 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. Fill in the origin of the aneuploid zygote in the right part of the scheme b fill in the scheme of nondisjunction in paternal meiosis i that leads to the birth. The most frequent chromosomal aberration is klinefelters syndrome, which is associated with small, solid testes with hyalinized tubules, missing spermatogenesis, and infertility. Who laboratory manual for the examination of human. It is of note, though, that chromosomal aberrations, and among them klinefelter s syndrome may predispose to haematologic malignancies. Chromosomeklinefelter syndromesex chromosome abnormalities. Apr 29, 20 mosaic or mosaicism mosaic or mosaicism donates the presence of two or morepopulations of cells with different genotypes in oneindividual who has developed from a single fertilized egg males with klinefelter syndrome may have a mosaic47,xxy46,xy constitutional karyotype and varyingdegrees of spermatogenic failure. No one knows what puts a couple at risk for conceiving an xxy child.
Turner and klinefelter syndromes are the most common chromosome abnormalities compatible with life. Pdf case of klinefelters syndrome in an 18 year old male. The etiology was thought to be due to an endocrine disorder of unknown cause, until 1959, when jacobs et al recognized that klinefelter syndrome was a chromosomal. Pdf klinefelters syndrome ks is the most common chromosomal aberration among men and is associated with multiple psychiatric. Klinefelter syndrome is a genetic condition affecting males, and it often isnt diagnosed until adulthood. Il6 is associated with insulin resistance and is an. This extra chromosome results in extra protein production and upsets the bodys balanced systems. Chromosomal aberrations with endocrine relevance turner. Klinefelters syndrome is a genetic disorder found in males and affects male sexual development. In almost all patients with klinefelter syndrome, sejdromu elevation of serum fsh is seen in lab findings 6,9, testicular dysgenesis affecting the seminiferous lkinefelter principally, with chromatinpositive nuclei. Induction of chromosomal aberrations by carbamate fungicide in fish clarius batrachus asian catfish ajay singh and. Klinefelter syndrome ks is a condition that occurs in men who have an extra x chromosome.
Klinefelter syndrome, 47, xxy ks, occurs in about 150 per 100,000 males and is the most frequent chromosomal aberration in males. The prevalence of chromosomal abnormalities is inversely proportionally related to sperm count. Klinefelter s syndrome is the most common genetic cause of human male infertility, but many cases remain undiagnosed because of substantial variation in clinical presentation and insufficient professional awareness of the syndrome itself. Learn more about the causes, symptoms, and treatment of klinefelter syndrome. Pdf pattern of chromosomal aberrations in patients from. Kotzot division for human genetics, department for medical genetics, molecular and clinical pharmacology, innsbruck medical university, innsbruck, austria on 1 of the 2 x chromosomes or accordingly on the y chromosome, as well as xx males and true hermaphrodites.
The mosaic xxy syndrome occurs only after conception from a mistake in cell division stewart. The mechanics signify chiefly a rearrangement through loss, gain or reallocation of chromosomal segments. Recent advances in managing and understanding klinefelter. The syndrome can affect different stages of physical, language, and social development. Klinefelter syndrome ks, also known as 47, xxy is the set of symptoms that result from two or more x chromosomes in males. Objective 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. Often, symptoms may be subtle and many people do not realize they are affected. Klinefelters syndrome definition of klinefelters syndrome. Klinefelter syndrome ks is a common male chromosomal disorder 47, xxy that has been a topic of intrigue and inquiry since the 1940s, when it was first described 1. 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%. The sequence of gene loci in the chromosome also maintains an. Novel genetic aspects of klinefelters syndrome oxford academic. Among the chromosomal abnormalities, sexual chromosomal abnormalities were found in some cases, and klinefelter syndrome with 2.
A biological accident occurs during a process called meiosis causing xxy. People with this condition are born with at least one extra x chromosome. Chromosomal aberrations in human disease the american. Genetic counseling in a patient with xxyxxxyxy mosaic. Klinefelter syndromea clinical update the journal of. They believed that the hypogonadism arose primarily from failure. Chromosomal studies have long promised to become a kind of visible chemistry 1. Jun 4, 2019 klinefelter syndrome is a genetic disorder that affects males. Klinefelter syndrome ks is a common male chromosomal dis order 47. Open access research criminality in men with klinefelter. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the x chromosome.
Clinical and therapeutic aspects of klinefelters syndrome. Having extra x chromosomes can cause a male to have some physical traits unusual for males. Klinefelter syndrome definition, symptoms, treatment. The johns hopkins klinefelter syndrome center is the only multidisciplinary program of its kind in the country serving adult males, says endocrinologist adrian dobs, the centers director. An example of a chromosomal genetic disorder is down syndrome. It was first described in 1942, with a number of additional conditions, characteristics, and abnormalities described in later publications. Structural and numerical chromosomal aberrations may affect either the autosomes or gonosomes and are a common cause of spontaneous abortions. The primary features are infertility and small poorly functioning testicles. Klinefelter syndrome definition of klinefelter syndrome by. Testicular tissue extraction in a young male with 47, xxy klinefelter s syndrome. The association of two preuterine induced conditions.
For example, in a cytogenetic study on a large dutch infertile population 1792 infertile men as low as 72 cases 4% with chromosomal abnormalities were reported and klinefelter s syndrome either pure or mosaic form was found in just 12 patients 0. Novel genetic aspects of klinefelters syndrome molecular. Rheumatic diseases and klinefelters syndrome klinefelters syndrome ks is not a rare gono somal aberration occurring in males. Chromosome aberration an overview sciencedirect topics. Klinefelter s syndrome is a chromosomal abnormality resulting in hypogonadism. Although extensively studied, the pathophysiology, i. Sometimes, symptoms are more prominent and may include weaker muscles, greater height. In epidemiological studies, it has been shown that. Klinefelter syndrome symptoms and causes mayo clinic. Klinefelter syndrome is one of the most common chromosomal disorders, occurring in one to two per 1,000 live male births. Klinefelter s syndrome results from an aberration of sex chromosomes 47, xxy karyotype which can be due to a corresponding author. Case report of klinefelters syndrome with severe diabetes. Introduction the sex chromosome trisomies 47, xxy klinefelters syndrome ks and 47,xyy are the most common male sex chromosome aneuploidies compatible with live birth.
Are males with klinefelter syndrome ks more prone to weight gain. The majority of klinefelters individuals have an extra female chromosome, resulting in an xxy pattern and a total of 47 chromosomes instead of 46. Ks affects 167 per 00 men,1e3 while the prevalence estimates of 47,xyy are highly variable, ranging in live born men from 26 per 004 to 375 per 00,5 although many are not diagnosed or diagnosed late. Klinefelter syndrome occurs when a boy is born with one or more extra x chromosomes.
Parameters for diagnosis of the syndrome are constantly expanding as new anatomical and hormonal abnormalities are noted, yet klinefelter s remains underdiagnosed and underreported. According to the current study, the pattern of chromosomal aberrations in. The numerical chromosome aberrations in klinefelters syndrome arise by. Klinefelter syndrome klinefelter syndrome is one of the numerical chromosomal aberrations involving the maldistribution of the. Praderwilli syndrome is a complex multisystem imprinting disorder characterized by hypothalamic dysfunction, neurological implications, and psychiatric disturbances. Rare combination of becker muscular dystrophy and klinefelter. Aug 24, 20 in general, the findings of this study are in accordance with most investigations which confirm the xxy aneuploidy to be the most prevalent chromosomal aberration in infertile male 25, 12, 17, 19. Klinefelter s syndrome ks is the most common sex chromosomal aberration among men, with estimated prevalence of about 1 in 500 newborn males.
Mental deficiency, manic depressive psychoses, and schizophrenia seem not to occur more commonly in this syndrome than in controls. Pdf klinefelter syndrome is the most common sex chromosome disorder in males. His story highlights the importance of healthcare professionals being able to describe clinical features of common chromosomal disorders and identify patients with genetic conditions such as klinefelter syndrome ms3. The other pattern is called the mosaic xxy syndrome, or chromosomal mosaicism, and affects approximately six percent of. They felt that the colobomamight occasionally be part of the phenotypic expression of klinefelter syndrome. The classic clinical features of patients with klinefelter syndrome start to become recognizable during adolescence. Klinefelter syndrome is a chromosomal disorder that affects only males. It is characterized by the presence of an extra x chromosome, which results in the karyotype 47, xxy. Klinefelter syndrome ks describes the phenotype of the most common sex chromosome abnormality in humans and. Mosaic chromosomal patterns found in klinefelters syndrome. Jan 28, 2019 klinefelter syndrome ks is a common male chromosomal disorder 47, xxy that has been a topic of intrigue and inquiry since the 1940s, when it was first described 1.
It is a subject of interest because of its wide spectrum of clinical manifestations, which include certain physical features, cognitive delays, and azoospermia. Harry klinefelter and his coworkers first described the combination of features that has come to be recognized as klinefelter syndrome. Some males with ks have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. 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.
Pattern of chromosomal aberrations in patients from north. What is the pathophysiology of klinefelter syndrome. Klinefelter syndrome congenital defects jama internal. Trisomy 21 is associated with a rate of incidence of 1. In 1942, klinefelter et al published a report describing nine men with a constellation of features. Other patterns of chromosomal aberration such as xxy, xxyy, and some mosaic patterns may result in the same syndrome. Anatomical and clinical aspects of klinefelters syndrome. Introduction chromosomal aberrations ca are one of the important biological consequences of human exposure to ionizing radiation and other genotoxic agents. Ks affects 167 per 00 men,1e3 while the prevalence estimates of 47,xyy are highly variable, ranging in live born men from 26. Chromosomal variants in klinefelter syndrome fulltext sexual. 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.
Endocrinological issues and hormonal manipulation in. Chromosomal disorders form a category of human genetic diseases, that are manifested by developmental and reproductive abnormalities, as well as playing an. Review article klinefelter syndrome the commonest form of hypogonadism, but often overlooked or untreated eberhard nieschlag summary background. Chromosomes are packages of genes found in every cell in the body.
In klinefelters syndrome there is an xxy sex chromosome constitution. Patients with klinefelter syndrome have an increased risk of extratesticular germ cell tumors and possibly increased risk of breast cancer. Chromosomal aberrations knowledge for medical students. These alterations arise spontaneously from errors in the normal processes of the cell. Feb 14, 2018 klinefelter syndrome ks is a condition that occurs in males when they have an extra x chromosome. Recent research has shown that males with klinefelter syndrome ks have increased body fat and reduced muscle mass. Klinefelter syndrome is the most common chromosomal abnormality in humans. 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 s syndrome ks was first described in 1942 klinefelter et al. In normal course of celldivision cycle, the chromosomes duplicate and segregate in an orderly manner. Sep 20, 20 boys and men with the chromosomal disorder klinefelter syndrome, or xxy male, have a new resource for treatment and medical management.
About 8090% of ks cases bear this original karyotype, whereas the remaining exhibit in decreasing frequency varying mosaicism e. Klinefelter s syndrome ks is the most common chromosome aneuploidy in males, characterized by at least one supernumerary x chromosome. Despite having fertility tests and undergoing ivf, klinefelter was not diagnosed in andrew for over forty years. Meiosis is experienced by all cells which will become an egg or sperm. Autosomal aberrations that are frequently observed are trisomy patau syndrome, trisomy 18 edwards syndrome, and the most common and widely recognized chromosomal aberration, trisomy 21 down syndrome. During pregnancy chromosomal abnormalities can cause the death of an embryo or fetus. Klinefelter syndrome is one of the numerical chromosomal aberrations involving the maldistribution of the gonosomes. However at this time, the cause of the increased body fat, especially in the abdominal stomach area, is not known. Other types of chromosomal aberrations are considered. Boys may be taller than other boys their age, with more fat around the belly. Sep 21, 2019 klinefelter syndrome is a genetic condition affecting males, and it often isnt diagnosed until adulthood.
Chronic proinflammation is involved in the pathogenesis of diabetes, and cytokines play a role in insulin resistance 1,2,3. Another typical, although not consistently reported, symptom of this disorder is gyneco mastia with almost normal male secondary sex characteristics. It results from an unequal sharing of sex chromosomes soon after fertilization. Klinefelters syndrome is a numeric sex chromosome aberration 47,xxy caused by meiotic nondisjunction. The chromosomal aberration found in ks is due to either meiotic or. Physician update new hope for those with klinefelter syndrome. The syndrome was first identified and described in 1942 by harry fitch klinefelter, jr. Klinefelters syndrome is caused by an extra x chromosome and affects only males. Approximately 1 in 5001,000 males are born with an extra sex chromosome.
Xxy definition klinefelter syndrome is a chromosomal disorder that affects only males. Klinefelter s syndrome, the most common sex disorder associated with chromosomal aberrations, is characterized by a plethora of clinical features. Klinefelter syndrome sometimes called klinefelter s, ks or xxy is where boys and men are born with an extra x chromosome. By the late 1950s, researchers discovered that men with this group of. Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. Early recognition and hormonal treatment of the disorder can substantially improve quality of life and prevent serious. Close to 15% are mosaic cases, usually with two cell lines 47,xxy and 46,xy and rarely with further cell lines. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Klinefelters syndrome is a sex chromosomal aberration of male infertility. Psychiatric aspects of klinefelters syndrome american. Interleukin il8 is a cytokine secreted by monocytes and endothelial cells 6. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. Early recognition and hormonal treatment of the disorder can substantially improve quality of life and prevent serious consequences.
The syndrome was first identified and described in 1942 by harry fitch klinefelter jr. Klinefelter syndrome ks is a common disorder that affects 1 in 500 male patients and results in testicular failure, androgen deficiency, and impaired spermatogenesis. In some cases, the features of the condition are so mild that the condition is not diagnosed until puberty or adulthood, and researchers believe that up to 75. Down syndrome is the result of an extra, third copy of chromosome 21 being present in a person.
Multiple choice questions on human genetic disorders mcq. It can be from a typical number of chromosomes or a. Klinefelters syndrome was first described in 1942 as an endocrine disorder characterised. Most diabetes of this syndrome shows insulin resistance. Design registerbased cohort study comparing the incidence of convictions among men with ks and with 47,xyy with age and calendarmatched samples of the general population. Intellectual impairment andor neuropsychiatric disorder are present in many cases. What are the complications of klinefelter syndrome. Klinefelter syndrome is the most common chromosomal aberration in men 3 11. 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 despite chromosome damage, in a female genotype, the y chromosome would prevail, leading to the male phenotype. According to the current study, the pattern of chromosomal aberrations in north east of iran demonstrates the importance of cytogenetic evaluation in patients who show clinical. Diagnosis of klinefelter syndrome in the donor after. Ks has a genetic background, with characteristics involving numerous specialties.
Recent prospective, unbiased studies have clarified many of the previous misconceptions associated with klinefelter. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. While about 2% of all infertile men have a congenital chromosomal aberration, among men with azoospermia the figure reaches 15% schmid and schmidtke 1983. However, within populations there can be found abnormalities involving the structure or number of chromosomes.
Klinefelters syndrome ks and 47,xyy are the most common male sex chromosome aneuploidies compatible with live birth. Klinefelter syndrome genetic and rare diseases information. The chromosome set of a species remains relatively stable over long periods of time. Patau syndrome, klinefelter syndrome, edwards syndrome, down syndrome, xxy, trisomy 21, trisomy 18, trisomy. The classical phenotype of ks is widely recognized, but many affected subjects present only very mild signs. The most frequent type of intersexuality, one per 500700 live male births. Enable javascript to view the expandcollapse boxes. A chromosomal disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal dna. However, males with klinefelters syndrome have an extra x chromosome 47xxy and therefore a total of 47 chromosomes. Trisomy 21, also referred to as downs syndrome, is a chromosomal aberration characterized by the presence of an additional chromosome 21. Human genetics chromosomal aberrations medical library. Pdf klinefelters syndrome and cardiovascular disease.
1370 176 1399 1185 768 1473 186 625 1076 908 207 1525 245 457 322 1195 770 1528 255 763 346 283 1258 9 1131 774 265 965 505 1202 881