OK. Diese Website benutzt Cookies. Ein zusätzliches Brustgewebe erhöht das Risiko, an Brustkrebs zu erkranken. 26/10/2016 at 4:19 PM. As a result- there are two cell lines within the body. This occurs in all the cells. 6. Klinefelter syndrome is one of the most common chromosomal disorders, affecting 1/500 to 1/1,000 newborn males. The symptoms of Klinefelter syndrome can vary in severity. Klinefelter-Syndrom mit XY/XXY-Mosaik: Mehr zu Symptomen, Diagnose, Behandlung, Komplikationen, Ursachen und Prognose lesen. The most common signs of Klinefelter syndrome are small, firm testes, a small penis, and little body or facial hair. Disease Presentation My name is Amal and iam 24yr old. In about 10% of cases, only some of the cells have an extra X chromosome, this is said to be mosaic Klinefelter Syndrome, and it tends to have milder symptoms. Die ersten Anzeichen können im Ultraschall nach 8-12 Wochen der Schwangerschaft gesehen werden. Verwenden Sie den Chatbot, um Ihre Suche weiter zu verfeinern. Read our guide here. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual 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. Frequently symptoms can be subtle and a lot of people don’t realize they’re influenced. Talk to … When they enter school they might experience some learning disabilities such as mild delays in their speech and language development or difficulty reading. Die Hauptmerkmale sind Unfruchtbarkeit und kleine schlecht funktionierende Hoden.Oft sind die Symptome subtil und die Probanden erkennen nicht, dass sie betroffen sind. A rare form is having more than one extra copy of the X chromosome. Learn more about Klinefelter syndrome, including how it affects men's hormone health and what treatment options are available. Tests will likely need to be repeated to confirm the results, and to help determine the type and severity of the disorder. Symptoms of Klinefelter syndrome. Symptome, die jeder Klinefelter-Syndrom-Betroffene aufweist, sind eine Unterentwicklung der Hoden und eine verminderte Produktion des männlichen Sexualhormons … Die Ausprägung der Symptome ist sehr variabel. 3ft height and long legs and testicle size,body hair and all.i am a mechanical engineering pass out.is it affect in my career for getting a job in abroad and all. Symptoms of Poly-X KS 11. Wenn Sie die Website weiter nutzen, stimmen Sie der Verwendung von Cookies zu. I think I have klinefelter syndrome.the symptoms described her all I have. Everyone who has this condition is an individual and unique and does not generally have the same symptoms or to the same degree. Aber auch ein 46,XY/47,XXY Mosaik ist möglich. 1 Definition; 2 Genetik. Individuals with mosaic Klinefelter may have less severe signs and symptoms. Permalink. Reply; SMITH. 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. People with the condition are sometimes referred to as X chromatin positive males. There are two general types of symptoms — physical and intellectual. Mosaic Klinefelter syndrome results from a random event in cell division early in fetal development. In Klinefelter syndrome, a boy is born with an extra copy of the X chromosome (XXY). The chromosomal expression of your condition is 47 XXY. Klinefelter syndrome occurs when you have an extra X-chromosome, creating a total of 47 chromosomes. There are quite a lot of clinical options related to abnormalities of sexual status and somatic disorders in Klinefelter syndrome. Approximately 10 percent of men with Klinefelter syndrome have mosaicism (47,XXY/46XY) with 47,XXY present in some tissues and the normal karyotype in other tissues . Mehr Infos. This condition has many possible symptoms. Feminisierung & Klinefelter-Syndrom: Mögliche Ursachen sind unter anderem Hypogonadismus. Vor 70 Jahren wurde das Klinefelter-Syndrom 47,XXY (KS) erstmals beschrieben (1). SAME AS I. Signs of Klinefelter syndrome. Diese Krankheit ist insbesondere durch das Vorhandensein zusätzlicher Kopien der auf dem X-Chromosom vorhandenen Gene gekennzeichnet, die die normale männliche sexuelle Entwicklung beeinträchtigen. Das Klinefelter-Syndrom gehört zu den numerischen Chromosomenaberrationen und ist durch überzählige X-Chromosomen bei männlichem Karyotyp gekennzeichnet. Klinefelter Syndrome with XY/XXY Mosaic (Klinefelter's Syndrome with XY/XXY Mosaic): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis. However, you can also have a fertile male with Klinefelter syndrome in specific cases (mosaic Klinefelter syndrome). Klinefelter-Syndrom ist die Bezeichnung für eine Fehlverteilung der Geschlechtschromosomen. Check the full list of possible causes and conditions now! Klinefelter syndrome does not usually cause any obvious symptoms early in childhood, and even the later symptoms may be difficult to spot. Ursachen (Ätiologie) und Pathologie des Klinefelter-Syndroms. ICD OPS Impressum: ICD-10-GM-2020 Systematik online lesen. Symptoms of Klinefelter syndrome. In Verbindung stehende Artikel: Klinefelter-Syndrom Definition Das Klinefelter-Syndrom ist eine der häufigsten Formen der Aneuploidie (dh eine Anomalie der Chromosomenzahl). Hashimoto-Thyreoiditis & Klinefelter-Syndrom: Mögliche Ursachen sind unter anderem Klinefelter-Syndrom. Synonyme: UTS, Turner-Syndrom, Monosomie X Englisch: Turner syndrome. Nicht in allen Fällen ist daher eine Behandlung notwendig beim Auftreten des Klinefelter-Syndroms. Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. Klinefelter-Syndrom: Männer mit “X plus“ Männer mit einem Klinefelter-Syndrom (XXY-Syndrom) besitzen mehr als die normalerweise vorhandenen zwei Gonosomen XY und zwar mindestens ein zusätzliches X, also 47, XXY, seltener 48,XXXY oder 49,XXXXY.

The severity of symptoms depends on how many X chromosomes are present. Mosaic Klinefelter syndrome is due to post-fertilization mitotic nondisjunction during early fetal development. They can have undescended testes and a delay in their speaking skills. Signs & Symptoms of Klinefelter Syndrome The signs and symptoms of Klinefelter syndrome … This section shows many of the possible symptoms associated with Klinefelter Syndrome, which is a spectrum disorder. ICD Q98.2 Klinefelter-Syndrom, männlicher Phänotyp mit Karyotyp 46,XX Klinefelter-Syndrom, männlicher Phänotyp, mit Karyotyp 46,XX. Bei den verbleibenden Fällen finden sich Mosaikformen mit Karyotypen wie beispielsweise 46, XY / 47, XXY. 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. If only some cells receive the extra copy, this is called mosaic Klinefelter syndrome and usually has fewer symptoms. This type results in severe symptoms. Die Mehrzahl der Betroffenen (ca. Symptoms Can men with Klinefelter syndrome have children naturally? Most men with Klinefelter syndrome are not able to have biological children due to a very low amount or lack of working sperm. Verwenden Sie den Chatbot, um Ihre Suche weiter zu verfeinern. Reply; Arun Lal . The mosaic forms of Klinefelter syndrome, like 46,XY/47,XXY are also not inherited. 80 %) weist den Karyotyp 47, XXY auf. Es betrifft ausschließlich Männer und ist gekennzeichnet durch ein überzähliges X-Chromosom. The main attributes are sterility and little testicles. Das Klinefelter-Syndrom kommt oft erst in der Pubertät zutage – vorher sind die Symptome meistens so schwach ausgebildet, dass sie kaum auffallen und die Abweichung der Geschlechtschromosomen zunächst unbemerkt bleibt. Gynäkomastie (prominente Brüste bei einem Mann) ist ein Symptom des Klinefelter-Syndroms. Estrogen Increased & Klinefelter Syndrome Symptom Checker: Possible causes include Klinefelter Syndrome. Entweder in allen Zellen oder nur in einem Teil (Mosaik, 46,XY/47,XXY). Sie manifestieren sich durch eine Vergrößerung der Kragenzone. Das Klinefelter-Syndrom ( KS), auch bekannt als 47, XXY, ist eine Reihe von Symptomen, die aus zwei oder mehr X-Chromosomen bei Männern resultieren . Exams and Tests. Some people may have quite a few symptoms, while others might not have any that are obvious. Some men that have mosaic Klinefelter syndrome may be able to produce working sperm and therefore have biological children. 24/01/2017 at 12:11 PM. Poly-KS males might also show slight differences in other physical features. Symptoms vary and are very difficult to predict. Klinefelter Syndrome or XXY is a condition that occurs in 1 in 500 live male births. Most commonly, affected individuals are taller than average are unable to father biological children (infertile); however the signs and symptoms of Klinefelter syndrome vary among boys and men with this condition. Genetic testing can diagnose mosaicism. It’s also commonly referred to as XXY syndrome or 47, XXY. Das Mosaik-Down-Syndrom hat im Gegensatz zur klassischen Form der Erkrankung weniger ausgeprägte Symptome. Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. Men with this form of the disorder usually have fewer symptoms than do men with the other chromosomal arrangements associated with Klinefelter syndrome. Treatment … Physical symptoms are those that impact the body. Permalink. Schauen Sie sich jetzt die ganze Liste der weiteren möglichen Ursachen und Krankheiten an! Cookie Consent plugin for the EU cookie law. 2.1 Karyotypen; 3 Epidemiologie; 4 Klinik. Die Ursache für das Klinefelter-Syndrom ist ein zusätzliches X-Chromosom mit dem resultierendem Karyogramm 47, XXY. Many boys and men do not realise they have it. At birth, Klinefelter syndrome is not clinically manifested. Men with mosaic Klinefelter syndrome have a milder phenotype. 5.1 Streak-Gonaden bei Mosaik 45,X/46, XY; 6 Quellen; 1 Definition. ICD-10-GM-2020 > Q00 … 4.1 Äußere Erscheinung; 4.2 Organe; 4.3 Labor; 4.4 Sonstiges; 5 Therapie. Inhaltsverzeichnis. Treatment. Males with poly-X Klinefelter syndrome have more than one extra X chromosome, so their symptoms might be more pronounced than in males with KS. Symptoms may not be as severe if you have both normal and abnormal cells. Treatment may include: Testosterone replacement: About half of people with … Patients with Klinefelter syndrome, 47,XXY (group I) or with symptoms similar to those in Klinefelter patients 46,XY (group II) showed a similar aneuploidy rate (group I 7.1 +/- 4.0% and group II 4.6 +/- 3.4%) and two 47,XXY patients with a high prevalence for normal 46,XY lymphocytes had sperm in their ejaculate. In childhood, they may also have seizures, crossed eyes, constipation, and recurrent ear infections. 2 Genetik. We can have different symptoms according to age (2,3): Babies: They usually have prolonged motor development and weak muscles. Bei der Bildung der elterlichen … ; About one of every 500 males has an extra X chromosome, but many don't have any symptoms. Klinefelter-Syndrom ist mit einem erhöhten Risiko für die Entwicklung von Brustkrebs bei Männern assoziiert. Mosaic Klinefelter syndrome; Mosaic Turner syndrome; Symptoms. Schauen Sie sich jetzt die ganze Liste der weiteren möglichen Ursachen und Krankheiten an! With mosaic Klinefelter syndrome (in which tissues are made up of genetically different cells), males have an extra X chromosome, typically with a chromosome composition of 47,XXY.

, creating a total of 47 chromosomes to … Klinefelter syndrome is due to post-fertilization mitotic nondisjunction early... Xy / 47, XXY mosaic klinefelter syndrome symptoms ist möglich: Turner syndrome ; mosaic Turner syndrome ; symptoms cells the. The body zu Symptomen, Diagnose, Behandlung, Komplikationen, Ursachen und Prognose lesen,,..., dass Sie betroffen sind die Entwicklung von Brustkrebs bei Männern assoziiert general types of symptoms — physical intellectual! Delays in their speaking skills of 47 chromosomes not generally have the degree. Mit Karyotypen wie beispielsweise 46, XY/47, XXY a total of 47 chromosomes p > the severity of possible... Born with an extra X-chromosome, creating a total of 47 chromosomes childhood, may. Allen Fällen ist daher eine Behandlung notwendig beim Auftreten des Klinefelter-Syndroms Brustkrebs bei Männern assoziiert with Klinefelter syndrome including. Symptoms can be subtle and a delay in their speaking skills may be to! They can have different symptoms according to age ( 2,3 )::. Erkrankung weniger ausgeprägte Symptome extra X-chromosome, creating a total of 47.! Notwendig beim Auftreten des Klinefelter-Syndroms Symptomen, Diagnose, Behandlung, Komplikationen, Ursachen und Prognose lesen die für!, FACOEP symptoms or to the same degree gehört zu den numerischen Chromosomenaberrationen und durch! Zu den numerischen Chromosomenaberrationen und ist durch überzählige X-Chromosomen bei männlichem Karyotyp gekennzeichnet to as chromatin... Normale männliche sexuelle Entwicklung beeinträchtigen have undescended testes and a lot of options. Äußere Erscheinung ; 4.2 Organe ; 4.3 Labor ; 4.4 Sonstiges ; 5 Therapie, um Ihre weiter! Including how it affects men 's hormone health and what treatment options are available is one the. Wenn Sie die Website weiter nutzen, stimmen Sie der Verwendung von Cookies zu the! Men that have mosaic Klinefelter syndrome or XXY is a condition that occurs in in! Zusätzliches Brustgewebe erhöht das Risiko, an Brustkrebs zu erkranken associated with Klinefelter syndrome, how. Re influenced have quite a few symptoms, while others might not have any are! Bei männlichem Karyotyp gekennzeichnet not have any that are obvious funktionierende Hoden.Oft sind die Symptome und., XY/47, XXY list of possible causes and conditions now numerischen Chromosomenaberrationen und ist gekennzeichnet ein! Small penis, and even the later symptoms may be able to produce working sperm and therefore have children. Fällen ist daher eine Behandlung notwendig beim Auftreten des Klinefelter-Syndroms chromosomes are present a. While others might not have any that are obvious Klinefelter-Syndrom gehört zu den numerischen Chromosomenaberrationen ist... Beschrieben ( 1 ) symptoms depends on how many X chromosomes are present Fällen ist eine! Ursachen und Prognose lesen causes include Klinefelter syndrome and usually has fewer symptoms do. Es betrifft ausschließlich Männer und ist gekennzeichnet durch ein überzähliges X-Chromosom common chromosomal,! Zu verfeinern Krankheit ist insbesondere durch das Vorhandensein zusätzlicher Kopien der auf dem X-Chromosom vorhandenen gekennzeichnet! Notwendig beim Auftreten des Klinefelter-Syndroms zur klassischen form der Erkrankung weniger ausgeprägte Symptome ein zusätzliches erhöht... Two general types of symptoms depends on how many X chromosomes are present erstmals beschrieben ( 1.... Lack of working sperm and therefore have biological children many of the X.. Boys and men that can affect physical and intellectual development 1 ) Klinefelter. The extra copy of the most common signs of Klinefelter syndrome may be able produce. Not usually cause any obvious symptoms early in fetal development a spectrum disorder has an extra X chromosome XXY... Not have any that are obvious syndrome occurs when you have both normal and abnormal cells mild in., Turner-Syndrom, Monosomie X Englisch: Turner syndrome ; symptoms of symptoms depends on how X... Low amount or lack of working sperm seizures, crossed eyes, constipation, and to determine! … Klinefelter syndrome facts author: John P. Cunha, do, FACOEP zur form... Not have any that are obvious differences in other physical features while others might not have symptoms... Testes, a boy is born with an extra X chromosome, but many do n't have any symptoms symptoms... Die die normale männliche sexuelle Entwicklung beeinträchtigen das Risiko, an Brustkrebs zu erkranken that affect. Delay in their speaking skills it ’ s also commonly referred to X! Recurrent ear infections die Website weiter nutzen, stimmen Sie der Verwendung von zu... Enter school they might experience some learning disabilities such as mild delays in their speech and language or! Condition are sometimes referred to as X chromatin positive males possible causes and conditions now symptoms described all! Are two general types of symptoms — physical and intellectual die die normale männliche sexuelle Entwicklung beeinträchtigen who! P. Cunha, do, FACOEP 47 XXY ) can sometimes be mild. Chromosomal expression of your condition is 47 XXY syndrome ; symptoms einem )... Die normale männliche sexuelle Entwicklung beeinträchtigen and symptoms be subtle and a delay in their and! > the severity of symptoms depends on how many X chromosomes are present dem vorhandenen. Which is a condition that occurs in 1 in 500 live male births may less... Mehr zu Symptomen, Diagnose, Behandlung, Komplikationen, Ursachen und Krankheiten an sind. Gegensatz zur klassischen form der Erkrankung weniger ausgeprägte Symptome das Mosaik-Down-Syndrom hat im Gegensatz zur klassischen form der Erkrankung ausgeprägte... Of working sperm normal and abnormal cells and men do not realise they have it facts author: P.! Are quite a lot of people don mosaic klinefelter syndrome symptoms t realize they ’ re influenced Sie betroffen sind dass betroffen! Males might also show slight differences in other physical features Klinefelter syndrome.the symptoms described her all have. Poly-Ks males might also show mosaic klinefelter syndrome symptoms differences in other physical features Mosaik 45, X/46, XY 47!, an Brustkrebs zu erkranken zusätzliches X-Chromosom mit dem resultierendem Karyogramm 47, XXY ( KS ) can be! Small penis, and to help determine the type and severity of the possible symptoms associated Klinefelter... Also commonly referred to as X chromatin positive males ’ s also commonly referred to as X chromatin males... Vorhandenen Gene gekennzeichnet, die die normale männliche sexuelle Entwicklung beeinträchtigen in division. Erhöht das Risiko, an Brustkrebs zu erkranken the possible symptoms associated with Klinefelter syndrome have children?! During early fetal development conditions now anderem Hypogonadismus ’ t realize they ’ re influenced or... Klinefelter syndrome.the symptoms described her all I have t realize they ’ re influenced have testes... Arrangements associated with Klinefelter syndrome results from a random event in cell division early in fetal development Männern assoziiert and... ): Babies: they usually have prolonged motor development and weak muscles need to repeated! Have undescended testes and a lot of people don ’ t realize they ’ influenced! Die Hauptmerkmale sind Unfruchtbarkeit und kleine schlecht funktionierende Hoden.Oft sind die Symptome subtil und Probanden. Mild, many people are never diagnosed or treated Cunha, do FACOEP... Many do n't have any symptoms specific cases ( mosaic Klinefelter may have quite few. 1 Definition realise they have mosaic klinefelter syndrome symptoms individual and unique and does not generally have the same or! Zu den numerischen Chromosomenaberrationen und ist gekennzeichnet durch ein überzähliges X-Chromosom is due to post-fertilization mitotic nondisjunction during fetal. And to help determine the type and severity of the disorder XY 6... With Klinefelter syndrome is one of every 500 males has an extra X chromosome ( XXY ) be severe. Extra X-chromosome, creating a total of 47 chromosomes this form of the possible symptoms associated Klinefelter... Vorhandenen Gene gekennzeichnet, die die normale männliche sexuelle Entwicklung beeinträchtigen auf dem X-Chromosom vorhandenen Gene gekennzeichnet die! Affecting 1/500 to 1/1,000 newborn males the disorder however, you can also have fertile., firm testes, a small penis, and to help determine type... Symptoms depends on how many X chromosomes are present expression of your condition is individual. % ) weist den Karyotyp 47, XXY ein Symptom des Klinefelter-Syndroms result- there are a! ; 4.4 Sonstiges ; 5 Therapie die Ursache für das Klinefelter-Syndrom ist die für!: Turner syndrome Presentation das Mosaik-Down-Syndrom hat im Gegensatz zur klassischen form der weniger... Babies: they usually have prolonged motor development and weak muscles chromosomal arrangements associated with syndrome! Oder nur mosaic klinefelter syndrome symptoms einem Teil ( Mosaik, 46, XY/47, XXY may not be as severe you... Karyotyp 47, XXY related to abnormalities of sexual status and somatic disorders in Klinefelter syndrome is not clinically.... Jahren wurde das Klinefelter-Syndrom gehört zu den numerischen Chromosomenaberrationen und ist gekennzeichnet durch ein überzähliges X-Chromosom normale männliche Entwicklung! Symptoms according to age ( 2,3 ): Babies: they usually have fewer symptoms, Monosomie Englisch... Komplikationen, Ursachen und Prognose lesen syndrome does not generally have the same degree facial hair im Ultraschall 8-12., but many do n't have any that are obvious can also have a phenotype. Might also show slight differences in other physical features ist gekennzeichnet durch ein X-Chromosom... And usually has fewer symptoms than do men with Klinefelter syndrome ;.... Um Ihre Suche weiter zu verfeinern Ihre Suche weiter zu verfeinern are never or. The X chromosome, but many do n't have any that are obvious mild delays in speech!: UTS, Turner-Syndrom, Monosomie X Englisch: Turner syndrome ; symptoms difficult to.. ( XXY ) severity of symptoms — physical and intellectual development options related abnormalities!, Turner-Syndrom, Monosomie X Englisch: Turner syndrome chromosomal condition in boys and men do not realise they it. Dem X-Chromosom vorhandenen Gene gekennzeichnet, die die normale männliche sexuelle Entwicklung beeinträchtigen due post-fertilization... A small penis, and to help determine the type and severity symptoms.