Sometimes, symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less. Klinefelter syndrome mesh descriptor data 2020 mesh. 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. The appearance of at least one y chromosome with a properly. Sep 21, 2019 klinefelter syndrome is a genetic condition affecting males, and it often isnt diagnosed until adulthood.
Other frequent variants include 48, xxxy, 49, xxxxy, and 48, xxyy 5 6. Article in german hornstein op, rott hd, schwanitz g, grosse g. About 20% are variants which include 48, xxyy, 48,xxxy, 49,xxxxy syndromes and. There have been reports of an even more extreme variant of klinefelters syndrome mosaic in newborn males duenas et al. Xxyy syndrome occurs in approximately 118,000 male births. Klinefelter syndrome increases the risk of developing extragonadal germ cell tumors and breast cancer. 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. Living with xxy became a nonprofit 501c3 charitable organization on november 6th, 2019. Breast carcinoma in association with the klinefelter syndrome. While often compared with 47, xxy klinefelter syndrome.
Living with klinefelter syndrome, trisomy x, and 47, xyy. Feb 14, 2018 klinefelter syndrome ks is a condition that occurs in males when they have an extra x chromosome. Most commonly, affected individuals are taller than average are unable to father biological children infertile. This is the most rare of the klinefelters syndrome variants and has been reported in over one hundred cases with the frequency being approximately 1 in 85,000 newborn males duenas et al. Variants of this syndrome with x and y polygamy are of rare occurrence. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48, xxyy. 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. It affects between 1 in 500 and 1 in 1,000 newborn males. They include variations in body hair, lack of acne at adolescence, multiple cutaneous angiomas, acrocyanosis, and. About 47,xxy the association for x and y chromosome variations. A fifthdigit clinodactyly and nail biting, b prominent elbows with hyperextensibility and c lower extremities with low muscle bulk in the calves, flat feet and mild pronation at the ankles. Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. Should xxyy be covered by the klinefelters syndrome.
Klinefelter syndrome for parents nemours kidshealth. Similar physical phenotype to 47,xxy, but males are taller and have disproportionately longer lower extremities. Sometimes, symptoms are more prominent and may include. Individuals with 48, xxyy are usually considerably tall with small testes that do not function normally leading to infertility. Klinefelter syndrome and other sex chromosomal aneuploidies. These patients, together with five xxyy subjects recorded in the literature, show the clinical features of klinefelter s syndrome.
A number of associated anomalies have been observed in the xxyy group, but whether they are of any special significance or merely coincidental remains to be determined table i. Living with klinefelter syndrome 47,xxy trisomy x 47, xxx and 47, xyy. The xxy condition that causes klinefelter syndrome cant be changed, but medical treatment and working with. Handbook of genetic counselingklinefelter syndrome. Therefore, you should understand that klinefelter syndrome is often considered a synonym or a condition closely related to the following. 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. An xxyy variant of the klinefelter syndrome in a prepubertal. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby.
The official parents sourcebook on klinefelter syndrome. In 1959 jacobs and strong 2 recognized the chromosomal basis of the disorder, until then solely defined through a set of clinical criteria. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Many boys with klinefelter syndrome also known as xxy syndrome have no signs or symptoms, and some dont even know they have it until later in life. Entry version abbreviation entry terms 48, xxyy syndrome add 49,xxxxy syndrome add klinefelter syndrome add klinefelter syndrome, variants add. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Normally male cells contain one x and one y chromosome in each cell. It results from an unequal sharing of sex chromosomes soon after fertilization. Rare case of klinefelters syndrome with 48xxyy vasudev magaji md, debra feden crnp and gretchen perilli, md references. 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. Patients typically have intellectual challenges iq range 6080, delayed speech, learning disabilities. In recent years, many males have been diagnosed with klinefelter syndrome before birth, through amniocentesis or chorionic villus sampling cvs. May 23, 2017 klinefelter syndrome is one of the most common chromosome conditions in newborns. 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.
This is the most rare of the klinefelter s syndrome variants and has been reported in over one hundred cases with the frequency being approximately 1 in 85,000 newborn males duenas et al. The most common sex chromosomal aneuploidy in males is klinefelter syndrome, with the prevalence of 1. Females have two x chromosomes 46,xx, and males have one x and one y chromosome 46,xy. 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. Xy47, xxy mosiac, chromosome 48 xxxy, chromosome 48 xxyy, chromosome xxy, hypergonadotropic hypogonadism, primary hypogonadism, seminiferous tubule dysgenesis, xxy syndrome. Klinefelter syndrome definition, symptoms, treatment. 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. April 9, 2011 sex chromosome tetrasomy and pentasomy conditions occur in 1. Klinefelter syndrome is a fairly common genetic condition found in males only. The 48, xxyy syndrome is generally considered the most common variant of the klinefelter syndrome 47,xxy. Klinefelter syndrome ks, also known as 47, xxy is the set of symptoms that result from two or more x chromosomes in males. This means that klinefelter syndrome, variants, or a subtype of klinefelter syndrome, variants, affects less than 200,000 people in the us population.
Similar physical phenotype to 47, xxy, but males are taller and have disproportionately longer lower extremities. Xxy aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Although this site implies xyy is a variant of klinefelter s syndrome, it is not, as xyys do not have atrophied testes, therefore do not have seminiferous tubule dysgenesis, which you can read. Instead of having the usual xy chromosome pattern that most males have, these men have an xxy pattern. The effects of additional x chromosomes are due to hormonal changes, decreased androgen production and increased estrogen levels 4. Patients with 48, xxyy tend to be taller and more aggressive than those with 47,xxy klinefelter syndrome. Xxyy is sometimes considered a variant of another syndrome called klinefelter syndrome, or 47, xxy. Xxyy syndrome is a sex chromosome anomaly in which males have an extra x and y chromosome.
When in 1942 harry klinefelter and his colleagues described the condition carrying his name 1, its aetiology was unknown. Klinefelter syndrome and its variants are the most common forms of sex chromosome aneuploidy, with a reported incidence of 1 in 500 to 1 in live births. Ever since, diagnosing klinefelter s syndrome has required the demonstration of the 47, xxy karyotype or one of its rare variants. Klinefelter s syndrome is a sex chromosomal aneuploidy caused by an addition of x chromosome in males 47, xxy. Review article klinefelter syndrome the commonest form of hypogonadism, but often overlooked or untreated eberhard nieschlag summary background. Two of the 46 chromosomes, known as x and y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Klinefelter syndrome symptoms and causes mayo clinic. The primary features are infertility, small testicles and hypogonadism. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48, xxyy and 48,xxxy. We aim to increase awareness and inform the health and education sectors and broader community. 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.
Learn more about the causes, symptoms, and treatment of klinefelter syndrome. The most common variant is 47, xxy which accounts for 90% of klinefelter syndrome cases 4 6. Xxy syndrome, 47, xxy males, epidemiology of klinefelter s syndrome 1. Klinefelter syndrome ks is a sex chromosomal anomaly, which in most cases is characterized by 47 chromosomes instead of the usual 46. Another name for klinefelter syndrome, variants or close medical condition association. Clinically, it is not clearly distinct from the more com mon xxy type of the klinefelter individual. Klinefelter syndrome genetic and rare diseases information. 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. Chromosomes are packages of genes found in every cell in the body.
The karyotype of a person with klinefelter syndrome is usually 47,xxy, meaning that an individual has 47 autosomes, two x chromosomes, and a y chromosome. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra x chromosome in cells. Klinefelter syndrome ks is a common genetic condition, affecting one in 450 men. Five individuals with a variant of klinefelter s xxyy syndrome are presented. A genetic condition where males have at least one extra x chromosome or extra copies of both the x and y chromosomes in each cell.
Seminoma of the testis in a patient with 48, xxyy variant of klinefelter s syndrome. Many with known klinefelter s syndrome are not diagnosed until they are adults. Feb 08, 1974 the xxyy variant of klinefelter s syndrome author s transl. Klinefelter syndrome sometimes called klinefelter s, ks or xxy is where boys and men are born with an extra x chromosome. Xxyy is still considered a variation of klinefelter syndrome by some definitions, mainly because the pathophysiology of the testicular dysfunction has not been shown to differ from 47, xxy, and the most current research does not suggest that there should be any differences in the evaluation and treatment of testosterone deficiency in 48, xxyy compared to 47, xxy. There are other types of sex chromosome anomalies such as xyy, xxxy, xxxxy, and variations in girls such as xo turner syndrome, xxx, xxxx. Its seeming rarity may be ascribed to the subtleties of clinical manifestation in a prepubertal boy rather than difficulty in establishing the diagnosis once suspected. The characteristics of the syndrome are discussed, including those signs of interest to dermatology. Often, symptoms may be subtle and many people do not realize they are affected. Discussion the xxyy variant is a relatively rare form of the klinefelter syndrome.
Usually, females have two x chromosomes xx and males have one x and one y chromosome xy. A guide for families and individuals affected by x and y chromosome variations cover msw, virginia isaacs on. There have been reports of an even more extreme variant of klinefelter s syndrome mosaic in newborn males duenas et al. Klinefelter syndrome xxy, xyy, xxx, xxyy, xxxy, xxxxy and associated variants. A guide for families and individuals affected by extra x and y chromosome variations 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. Its seeming rarity may be ascribed to the subtleties of clinical manifestation in a prepubertal boy rather than dieulty in establishing the diagnosis once suspected. 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. Nondisjunction of sex chromosomes during maternal meiosis 53% or paternal meiosis 47% results in 47, xxy genotype classically, although variants such as xxyy, xxxy, and xxxxy, and mosaic patterns, such as xxxxy, also exist. The condition is not inherited but is a result of problems during cell division. Xxyy syndrome is the name attached to the cluster of symptoms that arise as a result of the 48, xxyy chromosome pattern. 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. First, you will not waste time searching the internet while missing a lot of relevant information. Photograph of physical features in xxyy, xxxy and xxxxy including. 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.
Klinefelter syndrome with xyxxy mosaic klinefelters. Variants of 48xxxy and 48xxyy klinefelter syndrome. Reviewarticle 48, xxyy, 48,xxxyand 49,xxxxy syndromes. 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. Pdf clinical and behavioural profile of a rare variant. Sometimes, symptoms are more prominent and may include weaker muscles, greater height, poor. An xxyy variant of the klinefelter syndrome in a prepubertal boy is described. Klinefelter syndrome a medical dictionary, bibliography. Klinefelter syndrome, variants symptoms, diagnosis. Three males with an xxyy sex chromosome complex are described. 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. May 03, 2020 and klinefelter s syndrome, which is the symptoms of low testosterone in xxy and variant males, called seminiferous tubule dysgenesis, has nothing at all to do with anything but hypogonadism.
The xxyy variant of klinefelters syndrome authors transl. What are the genetic variants of klinefelter syndrome. It is the most common sex chromosome disorder, affecting 1 in 660 men. Dec 23, 2015 rarely, an individual may possess both an additional x and an additional y chromosome 48, xxyy. Variants of the disease with three, four, or more extra. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. Klinefelter syndrome, variants is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. Variants of klinefelter syndrome are as followsref32 ref33. The primary features are infertility and small poorly functioning testicles. Originally described as a variant of klinefelter syndrome xxy because of shared features of tall stature and hypogonadism,22 it is now recognized that xxyy is associated with more significant cognitive deficits and behavioral disorders, as well as a higher rate of.
Apr, 2004 the book is designed for physicians, medical students preparing for board examinations, medical researchers, and patients who want to become familiar with research dedicated to klinefelter syndrome. The syndrome was originally considered a variation of klinefelter syndrome, and xxyy is still considered a variation of klinefelter syndrome by some definitions because the pathophysiology of the testicular dysfunction has not been shown to differ from 47, xxy, and the most current research does not suggest that there should be any differences in the evaluation and treatment of testosterone deficiency in 48, xxyy compared to 47, xxy. Browse az genetic and rare diseases information center. Section of neurodevelopmental behavioral pediatrics, department of pediatrics, university of colorado school of medicine, aurora, co, usa.
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. Autism spectrum disorder in males with sex chromosome. More than 60 patients with 48, xxyy complement have been reported since the first case was published by muldal and ockey 99 in 1960. Klinefelter s syndrome often goes undiagnosed in affected males. Enter your mobile number or email address below and well send you a link to download the free kindle app.
1383 561 85 728 200 651 1296 132 154 1045 110 1404 1182 643 276 151 1553 370 1072 204 852 1156 573 726 1267 68 951 564 375 1378 827 827