Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to. Among the variant kline felter genotypes are such karyotypes as xy xxy and xxxxy. Part of the contemporary endocrinology book series coe. Pdf klinefelters syndrome is a sex chromosomal aneuploidy caused by an addition of x chromosome in males 47,xxy. Klinefelter syndrome ks describes the phenotype of the most common.
Learn more about the causes, symptoms, and treatment of klinefelter syndrome. Klinefelter syndrome, also referred to as xxy condition, is a genetic disease. Apr 14, 20 professor rob mclachlan discusses klinefelter syndrome, and how it can present differently in each individual but a common feature is that all men with klinefelter syndrome will have small testes. Variant klinefelter syndrome with 48,xxxy46,xy mosaicism has been rarely reported, and its phenotypic features, compared with those of the classic type, have not been well delineated. Because not every male with an xxy pattern has all the symptoms of klinefelter syndrome, it is common to use the term xxy male to describe these men, or xxy condition to describe the symptoms. Klinefelter syndrome ks, also known as 47, xxy is the set of symptoms that result from two or more x chromosomes in males. The condition is primarily caused by the genetic mutation or the acquisition of male born babies of an extra x sex chromosome.
Pdf novel genetic aspects of klinefelters syndrome researchgate. The majority of klinefelter syndrome patients have the xxy karyotype. An extra x chromosome in some of the cells mosaic klinefelter syndrome, with fewer symptoms. Klinefelter syndrome ks, also known as 47, xxy is the set of symptoms that result from two or. About 47,xxy the association for x and y chromosome variations. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. Rarely, other cells may have additional chromosome abnormalities. Klinefelters syndrome project 47xxy hello, and welcome to project 47xxy aiming to raise awareness about a condition known as klinefelters syndrome. Several symptoms of klinefelter syndrome, 47, xxy, are almost universal. A guide for families and individuals affected by x and y chromosome variations. Klinefelter syndrome ks is a common genetic condition, affecting one in 450 men. Pdf klinefelters syndrome ks is the most common chromosome aneuploidy in males, characterized.
Chromosomal variants amongst xxy klinefelter syndrome. Klinefelter syndrome klinefelter syndrome is suspected in males with developmental delay, hypogonadism, gynecomastia, or infertility. Klinefelter syndrome symptoms and causes mayo clinic. Living with klinefelter syndrome, trisomy x, and 47, xyy. Klinefelters syndrome is a condition caused by a chromosome nondisjunction in males. Acta androgen aneuploidy associated bandmann e breit barr barr bodies basal biopsy bone formation boys with klinefelters 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. These disorders may be called other names including klinefelter syndrome 47, xxy, triple x 47, xxx and jacobs syndrome 47, xyy.
The multiple cases of 47,xxy females are all the more reason to not use the outdated term klinefelter syndrome since 1 not all xxys are male 2 not all xxy males have klinefelter syndrome and 3 not all males with klinefelter syndrome are xxy or variant, some are xy. The primary features are infertility and small testicles. X and y chromosomal variations the focus foundation. If you have any recommendations for sites that have helped you, please feel free to let me know and i will be glad to add to the resources below. Many men are diagnosed during an infertility evaluation probably all nonmosaic 47,xxy males are infertile. Professor rob mclachlan discusses klinefelter syndrome, and how it can present differently in each individual but a common feature is that all. By the late 1950s, the cause for klinefelters syndrome was discovered. Klinefelter syndrome ks is a sex chromosomal anomaly, which in most cases is characterized by 47 chromosomes instead of the usual 46.
Sep 21, 2019 klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the x chromosome. Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. Klinefelters syndrome does not develop until after the onset of puberty in some xxy and variant males. Klinefelter syndrome occurs when a boy is born with one or more extra x chromosomes. It can cause a variety of problems, including a small penis, small testes and infertility. Klinefelter syndrome a medical dictionary, bibliography. Here we describe a rare case of 48, xxxy klinefelters variant from south india with. About 47xxy klinefelter klinefelter syndrome australia inc. One extra copy of the x chromosome in each cell xxy, the most common cause. These conditions, which are often called variants of klinefelter syndrome usually have more serious problems intellectual disability, skeletal problems, and poor coordination than classic klinefelter syndrome 47, xxy. Maybe some is insufficient, but we cant say all and we cant say most as we dont know of every instance of every xxy male or what percentage of those go on to develop. Thanks to the generosity of the book s author, virginia isaacs cover, msw, axys is pleased to make this book available to the x and y variation community, in its entirety, at no cost. A guide for families and individuals affected by extra x and y chromosome variations. Clinical and behavioural profile of a rare variant of klinefelter.
Both ks and trisomy x also have variant forms in which there are. Klinefelter syndrome ks describes the phenotype of the most. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Some men with klinefelter syndrome have no symptoms. In these individuals, the condition is described as mosaic klinefelter syndrome 46,xy47, xxy. Pdf clinical and behavioural profile of a rare variant of klinefelter. The typical symptoms are a tall stature, narrow shoulders, broad hips,sparse body hair,gynecomastia, small testes, absent spermatogenesis. Birth after intracytoplasmic sperm injection of ejaculated spermatozoa from a man with mosaic klinefelter s syndrome.
Klinefelter s syndrome a male bodily disorder caused by one or more additional x sex chromosomes. The penis and testicles are small and there may be female breast development and diminished sexual interest. Instead of the normal x and y sex chromosomes, men with klinefelters syndrome have an xxy configuration. Apart from normal interindividual genetic variation, several genetic. Klinefelter syndrome simple english wikipedia, the free. 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. These conditions, which are often called variants of klinefelter syndrome usually have more serious problems intellectual disability, skeletal problems, and poor coordination than classic klinefelter syndrome 47,xxy. Other symptoms include erectile dysfunction, osteoporosis, language and learning impairment and behavioral problems. Klinefelters syndrome support groups online dailystrength. Mar 23, 2020 in 1942, klinefelter et al published a report on 9 men who had enlarged breasts, sparse facial and body hair, small testes, and an inability to produce sperm. Even though all men with klinefelter syndrome have the extra x chromosome, not every xxy male has all of those symptoms. This article has been cited by other articles in pmc.
Before we delve into what klinefelter syndrome is, why is occurs lets start with our genes and chromosomes. Later variants of the syndrome were observed with xxxy and xxxxy sex. A variant klinefelter syndrome patient with an xxyxxxy. Understanding klinefelter syndrome, a guide for xxy males and their families, by robert bock 1993, national institute of health. Handbook of genetic counselingklinefelter syndrome. The primary features are infertility and small poorly functioning testicles. People who have klinefelters syndrome are often called xxy males, or. Pseudoautosomal deletions encompassing a novel homeobox gene. Buy living with klinefelter syndrome 47, xxy trisomy x 47, xxx and 47, xyy. There are also children with rare variant disorders of x and y variations including 48,xxxy and 49,xxxxy, tetrasomy x 48,xxxx, pentasomy x 49, xxxxx.
Because not every male with an xxy pattern has all the symptoms of klinefelter syndrome, it is common to use the term xxy male to describe these men. Klinefelter syndrome xxy describes the phenotype of the most common sex chromosome abnormality in humans and occurs in one of every 600 newborn males. Normally, males have the xy sex chromosome, determining them of their sex. 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. The genetic variation is irreversible, thus there is no causal therapy. Klinefelters syndrome definition of klinefelters syndrome. Jul 24, 2012 klinefelters syndrome project 47xxy hello, and welcome to project 47xxy aiming to raise awareness about a condition known as klinefelters syndrome or 47xxy. Pdf klinefelters syndrome is a sex chromosomal aneuploidy caused by an.
Pseudoautosomal deletions encompassing a novel homeobox. The diagnosis of klinefelter syndrome is suspected on physical examination of an adolescent with small testes and gynecomastia. Klinefelter syndrome is the first human sex chromosomal abnormality to be reported. Klinefelter syndrome is a genetic disorder that affects males. In some cases, there is more than one x chromosome in each cell for example, 48,xxxy or 49,xxxxy.
Symptoms include decreased testosterone levels, development of breasts, wider hips, and infertility. Klinefelter syndrome ks is the most common chromosomal deficiency associated with hypogonadism and thus gynecomastia. Most commonly, affected individuals are taller than average are unable to father biological children infertile. These patients, together with five xxyy subjects recorded in the literature, show the clinical features of klinefelter s syndrome. Individuals with 48,xxyy are usually considerably tall with small testes that do not function normally leading to infertility. Often, symptoms may be subtle and many people do not realize they are affected. Mar 25, 2020 klinefelter s syndrome is not congenital. Klinefelters syndrome a male bodily disorder caused by one or more additional x sex chromosomes. The klinefelters syndrome association ksa offers support and information to all affected by, or having an interest in, klinefelters syndrome ks and xxy. Approximately 15% of klinefelter patients, however, are mosaics with variable phenotypes. Klinefelters syndrome xxy learning about electronics. The syndrome can affect different stages of physical, language, and social development. Klinefelter syndrome ks, also known as 47, xxy or xxy, is the set of symptoms that result from two or more x chromosomes in males.
Klinefelters syndrome, 47 xxy currently effects approximately 1 in 500 individuals. Below is the karyotype of an individual with klinefelters syndrome. The xxyy variant of klinefelters syndrome ncbi nih. Individuals with ks often present with physical characteristics including tall stature, hypogonadism, and fertility problems.
Similar physical phenotype to 47, xxy, but males are taller and have disproportionately longer lower extremities. Diagnosing klinefelter syndrome genetics home page. It occurs if you are born with an extra x chromosome. Klinefelter syndrome is a genetic condition affecting males, and it often isnt diagnosed until adulthood. Some males are born with only 3 sex chromosomes, 2 x chromosomes and 1 y chromosome, for an xxy set of sex chromosomes. Klinefelter syndrome is a genetic disorder associated with male hypogonadism, gynecomastia and reduced fertility.
Klinefelter syndrome definition, symptoms, treatment. Here we describe a rare case of 48, xxxy klinefelters variant from south. Klinefelter syndrome ks is a condition that occurs in men who have an extra x chromosome. In order to diagnose klinefelter syndrome, a doctor will perform certain tests. Serum testosterone of boys with karyotype 47,xxy klinefelters syndrome at birth. Klinefelters syndrome ks is the most common sex chromosome disorder in men, affecting. May 07, 2012 48,xxyy syndrome is a chromosomal condition, characterized by the presence of an extra x and y chromosome in males, that causes medical and behavioral problems. When it comes to klinefelter syndrome, the infant has xxy as their sex chromosome. However, not all males are born with an xy set of chromosomes. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. A guide for families and individuals affected by x and y chromosome variations cover msw, virginia isaacs on.
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. 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. Chromosomes are packages of genes found in every cell in the body. A case of the rare variant of klinefelter syndrome 47,xy,ixq10. Klinefelter s syndrome does not develop until after the onset of puberty in some xxy and variant males.
The multiple cases of 47, xxy females are all the more reason to not use the outdated term klinefelter syndrome since 1 not all xxys are male 2 not all xxy males have klinefelter syndrome and 3 not all males with klinefelter syndrome are xxy or variant, some are xy. Abramsky l, chapple j 47, xxy klinefelter syndrome and 47, xyy. Klinefelter syndrome pictures, causes, symptoms, treatment. Later variants of the syndrome were observed with xxxy and xxxxy sex chromosome complements, and others with sex chromosome mosaicism, such as. Klinefelter syndrome a medical dictionary, bibliography, and annotated research guide to internet references icon health publications, icon health publications on. Klinefelter syndrome sometimes called klinefelters, ks or xxy is where boys and men are born with an extra x chromosome.
Three males with an xxyy sex chromosome complex are described. Later variants of the syndrome were observed with xxxy and xxxxy sex chromosome complements, and others with sex chromosome mosaicism, such as xy. The chromosome arrangement for normal males is xy, in the males who had klinefelters syndrome, their chromosome arrangement was xxy. Instead of the normal x and y sex chromosomes, men with klinefelter s syndrome have an xxy configuration. Diagnosing klinefelter syndrome can be difficult, because not all males carrying the extra chromosome show symptoms. Some people with features of klinefelter syndrome have an extra x chromosome in only some of their cells. More than one extra copy of the x chromosome, which is rare and results in a severe form. It was shown that men who displayed the distinct characteristics specific to klienfelters syndrome had an extra x chromosome. Living with klinefelter syndrome 47,xxy trisomy x 47, xxx and 47, xyy. Boys may be taller than other boys their age, with more fat around the belly. It is likely that many males with 47,xxy remain undiagnosed. A diagnosis can be made at any time, but the optimal times are shortly after birth or in early childhood.
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 felter s syndrome female ferguson. In 1959, these men with klinefelter syndrome were discovered to have an extra x chromosome genotype xxy instead of the usual male sex complement genotype xy. The incidence of anxiety disorders and the impact of hormonal replacement therapy hrt is not well. These patients, together with five xxyy subjects recorded in the literature, show the clinical features of klinefelters syndrome. In 1942, klinefelter et al published a report on 9 men who had enlarged breasts, sparse facial and body hair, small testes, and an inability to produce sperm. In other words, they are born with an extra x chromosome. Below are some links for more information for those who have one of these variants or a friend or family member with these rarer variants of klinefelter syndrome. Klinefelter syndrome sometimes called klinefelter s, ks or xxy is where boys and men are born with an extra x chromosome. Taking into consideration the findings in xyy and xxxyy individuals, it appears that the addition of a y chromosome to xy, xxy and xxxy complexes has a variable and as yet not clearly delineated harmful effect. Klinefelter syndrome is a genetic condition affecting males. Living with klinefelter syndrome 47,xxy trisomy x genetic org.
A guide for families and individuals affected by x and y chromosome variations cover msw, virginia. Klinefelter syndrome genetic and rare diseases information. Klinefelter syndrome, also known as xxy syndrome, is a condition in boys and men thats caused by an extra x chromosome. Most men with klinefelter syndrome will be taller than average and have infertility. Treatment includes educational, therapeutic, and medical therapy. Importance of klinefelter syndrome in the pathogenesis of male infertility. Chromosomal variants in klinefelter syndrome fulltext sexual. In addition to medical findings, the presence of the extra. People who have klinefelter s syndrome are often called xxy males, or 47, xxy males.
Klinefelters syndrome is a sex chromosomal aneuploidy caused by an addition. It results from an unequal sharing of sex chromosomes soon after fertilization. You have in your sources 2 pieces of literature that bear this out. Taking into consideration the findings in xyy and xxxyy individuals, it appears that the addition of a y chromosome to xy, xxy and xxxy complexes has a. Klinefelters syndrome is the most common sex chromosome disorder and results in primary hypogonadism and infertility in men. Klinefelter syndrome, 47, xxy, or xxy syndrome is a genetic disorder where people have an extra number of x chromosomes. The syndrome is caused by an additional x chromosomes resulting in a karyotype of 47, xxy.
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