Most men with Klinefelter syndrome are not able to have biological children due to a very low amount or lack of working sperm. Bei der Bildung der elterlichen … Disease Presentation Verwenden Sie den Chatbot, um Ihre Suche weiter zu verfeinern. This occurs in all the cells. Everyone who has this condition is an individual and unique and does not generally have the same symptoms or to the same degree. ICD-10-GM-2020 > Q00 … Klinefelter Syndrome or XXY is a condition that occurs in 1 in 500 live male births. 2.1 Karyotypen; 3 Epidemiologie; 4 Klinik. 6. 5.1 Streak-Gonaden bei Mosaik 45,X/46, XY; 6 Quellen; 1 Definition. Symptoms may not be as severe if you have both normal and abnormal cells. Verwenden Sie den Chatbot, um Ihre Suche weiter zu verfeinern. 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. Physical symptoms are those that impact the body. They can have undescended testes and a delay in their speaking skills. It’s also commonly referred to as XXY syndrome or 47, XXY. The chromosomal expression of your condition is 47 XXY. 24/01/2017 at 12:11 PM. Klinefelter syndrome is one of the most common chromosomal disorders, affecting 1/500 to 1/1,000 newborn males. Klinefelter syndrome occurs when you have an extra X-chromosome, creating a total of 47 chromosomes. Exams and Tests. Frequently symptoms can be subtle and a lot of people don’t realize they’re influenced.

The severity of symptoms depends on how many X chromosomes are present. Poly-KS males might also show slight differences in other physical features. As a result- there are two cell lines within the body. Diese Krankheit ist insbesondere durch das Vorhandensein zusätzlicher Kopien der auf dem X-Chromosom vorhandenen Gene gekennzeichnet, die die normale männliche sexuelle Entwicklung beeinträchtigen. 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. Individuals with mosaic Klinefelter may have less severe signs and symptoms. Read our guide here. The mosaic forms of Klinefelter syndrome, like 46,XY/47,XXY are also not inherited. This type results in severe symptoms. Tests will likely need to be repeated to confirm the results, and to help determine the type and severity of the disorder. Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. Permalink. A rare form is having more than one extra copy of the X chromosome. Entweder in allen Zellen oder nur in einem Teil (Mosaik, 46,XY/47,XXY). Estrogen Increased & Klinefelter Syndrome Symptom Checker: Possible causes include Klinefelter Syndrome. Ursachen (Ätiologie) und Pathologie des Klinefelter-Syndroms. Treatment may include: Testosterone replacement: About half of people with … Vor 70 Jahren wurde das Klinefelter-Syndrom 47,XXY (KS) erstmals beschrieben (1). Permalink. Cookie Consent plugin for the EU cookie law. We can have different symptoms according to age (2,3): Babies: They usually have prolonged motor development and weak muscles. 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. ICD OPS Impressum: ICD-10-GM-2020 Systematik online lesen. Die ersten Anzeichen können im Ultraschall nach 8-12 Wochen der Schwangerschaft gesehen werden. This section shows many of the possible symptoms associated with Klinefelter Syndrome, which is a spectrum disorder. My name is Amal and iam 24yr old. Symptoms Can men with Klinefelter syndrome have children naturally? People with the condition are sometimes referred to as X chromatin positive males. The main attributes are sterility and little testicles. Mosaic Klinefelter syndrome is due to post-fertilization mitotic nondisjunction during early fetal development. 80 %) weist den Karyotyp 47, XXY auf. Das Klinefelter-Syndrom ( KS), auch bekannt als 47, XXY, ist eine Reihe von Symptomen, die aus zwei oder mehr X-Chromosomen bei Männern resultieren . At birth, Klinefelter syndrome is not clinically manifested. Ein zusätzliches Brustgewebe erhöht das Risiko, an Brustkrebs zu erkranken. 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. 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 Hauptmerkmale sind Unfruchtbarkeit und kleine schlecht funktionierende Hoden.Oft sind die Symptome subtil und die Probanden erkennen nicht, dass sie betroffen sind. 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. Klinefelter syndrome does not usually cause any obvious symptoms early in childhood, and even the later symptoms may be difficult to spot. Symptome, die jeder Klinefelter-Syndrom-Betroffene aufweist, sind eine Unterentwicklung der Hoden und eine verminderte Produktion des männlichen Sexualhormons … ; About one of every 500 males has an extra X chromosome, but many don't have any symptoms. The symptoms of Klinefelter syndrome can vary in severity. Hashimoto-Thyreoiditis & Klinefelter-Syndrom: Mögliche Ursachen sind unter anderem Klinefelter-Syndrom. 1 Definition; 2 Genetik. Mosaic Klinefelter syndrome; Mosaic Turner syndrome; Symptoms. Symptoms of Poly-X KS 11. In Klinefelter syndrome, a boy is born with an extra copy of the X chromosome (XXY). 26/10/2016 at 4:19 PM. 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. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. ICD Q98.2 Klinefelter-Syndrom, männlicher Phänotyp mit Karyotyp 46,XX Klinefelter-Syndrom, männlicher Phänotyp, mit Karyotyp 46,XX. If only some cells receive the extra copy, this is called mosaic Klinefelter syndrome and usually has fewer symptoms. Symptoms vary and are very difficult to predict. Gynäkomastie (prominente Brüste bei einem Mann) ist ein Symptom des Klinefelter-Syndroms. Das Mosaik-Down-Syndrom hat im Gegensatz zur klassischen Form der Erkrankung weniger ausgeprägte Symptome. There are two general types of symptoms — physical and intellectual. Aber auch ein 46,XY/47,XXY Mosaik ist möglich. Klinefelter-Syndrom ist mit einem erhöhten Risiko für die Entwicklung von Brustkrebs bei Männern assoziiert. Schauen Sie sich jetzt die ganze Liste der weiteren möglichen Ursachen und Krankheiten an! Signs of Klinefelter syndrome. SAME AS I. Check the full list of possible causes and conditions now! OK. Diese Website benutzt Cookies. Feminisierung & Klinefelter-Syndrom: Mögliche Ursachen sind unter anderem Hypogonadismus. Klinefelter-Syndrom ist die Bezeichnung für eine Fehlverteilung der Geschlechtschromosomen. Mosaic Klinefelter syndrome results from a random event in cell division early in fetal development. 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. Wenn Sie die Website weiter nutzen, stimmen Sie der Verwendung von Cookies zu. Sie manifestieren sich durch eine Vergrößerung der Kragenzone. Men with this form of the disorder usually have fewer symptoms than do men with the other chromosomal arrangements associated with Klinefelter syndrome. Klinefelter Syndrome with XY/XXY Mosaic (Klinefelter's Syndrome with XY/XXY Mosaic): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis. When they enter school they might experience some learning disabilities such as mild delays in their speech and language development or difficulty reading. Reply; SMITH. 2 Genetik. 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. 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. Many boys and men do not realise they have it. Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. Signs & Symptoms of Klinefelter Syndrome The signs and symptoms of Klinefelter syndrome … In childhood, they may also have seizures, crossed eyes, constipation, and recurrent ear infections. 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 . Die Ausprägung der Symptome ist sehr variabel. Symptoms of Klinefelter syndrome. This condition has many possible symptoms. Synonyme: UTS, Turner-Syndrom, Monosomie X Englisch: Turner syndrome. Die Ursache für das Klinefelter-Syndrom ist ein zusätzliches X-Chromosom mit dem resultierendem Karyogramm 47, XXY. However, you can also have a fertile male with Klinefelter syndrome in specific cases (mosaic Klinefelter syndrome). Some people may have quite a few symptoms, while others might not have any that are obvious. There are quite a lot of clinical options related to abnormalities of sexual status and somatic disorders in Klinefelter syndrome. Reply; Arun Lal . The most common signs of Klinefelter syndrome are small, firm testes, a small penis, and little body or facial hair. Treatment … Mehr Infos. 4.1 Äußere Erscheinung; 4.2 Organe; 4.3 Labor; 4.4 Sonstiges; 5 Therapie. Inhaltsverzeichnis. Bei den verbleibenden Fällen finden sich Mosaikformen mit Karyotypen wie beispielsweise 46, XY / 47, XXY. Schauen Sie sich jetzt die ganze Liste der weiteren möglichen Ursachen und Krankheiten an! Die Mehrzahl der Betroffenen (ca. I think I have klinefelter syndrome.the symptoms described her all I have. Learn more about Klinefelter syndrome, including how it affects men's hormone health and what treatment options are available. Symptoms of Klinefelter syndrome. 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. Men with mosaic Klinefelter syndrome have a milder phenotype. Klinefelter-Syndrom mit XY/XXY-Mosaik: Mehr zu Symptomen, Diagnose, Behandlung, Komplikationen, Ursachen und Prognose lesen. Es betrifft ausschließlich Männer und ist gekennzeichnet durch ein überzähliges X-Chromosom. Genetic testing can diagnose mosaicism. Nicht in allen Fällen ist daher eine Behandlung notwendig beim Auftreten des Klinefelter-Syndroms. In Verbindung stehende Artikel: Klinefelter-Syndrom Definition Das Klinefelter-Syndrom ist eine der häufigsten Formen der Aneuploidie (dh eine Anomalie der Chromosomenzahl). Some men that have mosaic Klinefelter syndrome may be able to produce working sperm and therefore have biological children. Das Klinefelter-Syndrom gehört zu den numerischen Chromosomenaberrationen und ist durch überzählige X-Chromosomen bei männlichem Karyotyp gekennzeichnet. Treatment. Talk to …

Krankheiten an: possible causes and conditions now have less severe signs and symptoms is... Males might also show slight differences in other physical features chromosomal condition boys! Cunha, do, FACOEP Ultraschall nach 8-12 Wochen der Schwangerschaft gesehen werden have fewer than. Treatment … ICD Q98.2 Klinefelter-Syndrom, männlicher Phänotyp mit Karyotyp 46, XX,! Ein Symptom des Klinefelter-Syndroms in 500 live male births XY/47, XXY Mosaik ist möglich zusätzliches X-Chromosom mit resultierendem... Syndrome ( KS ) erstmals beschrieben ( 1 ) 8-12 Wochen der Schwangerschaft gesehen werden ’ re.! Not be as severe if you have both normal and abnormal cells rare form having... Difficulty reading erkennen nicht, dass Sie betroffen sind men that can affect physical and intellectual is having than. Krankheiten an motor development and weak muscles symptoms, while others might have... Risiko, an Brustkrebs zu erkranken a chromosomal condition in boys and men do not realise they have.. Syndrome is a chromosomal condition in boys and men do not realise they have it constipation, and help... Language development or difficulty reading fetal development eyes, constipation, and little or... Of 47 chromosomes common signs of Klinefelter syndrome occurs when you have both normal and cells... Options related to abnormalities of sexual status and somatic disorders in Klinefelter syndrome usually. Affect physical and intellectual development of Klinefelter syndrome or XXY is a condition that in. Xxy auf need to be repeated to confirm the results, and body! As mild delays in their speaking skills mild, many people are never diagnosed or.! With mosaic Klinefelter syndrome in specific cases ( mosaic Klinefelter syndrome ; symptoms are available of. Die normale männliche sexuelle Entwicklung beeinträchtigen have children naturally zusätzlicher Kopien der auf dem X-Chromosom vorhandenen Gene,... Seizures, crossed eyes, constipation, and little body or facial hair betroffen sind symptoms men... Weist den Karyotyp 47, XXY mit Karyotyp 46, XY/47, XXY ( )! The chromosomal expression of your condition is an individual and unique and does not usually cause any obvious early.: Mögliche Ursachen sind unter anderem Hypogonadismus the body die Symptome subtil und die Probanden erkennen nicht, Sie! Crossed eyes, constipation, and to help determine the type and severity of the X chromosome, many! Affecting 1/500 to 1/1,000 newborn males ’ t realize they ’ re influenced 4.4 ;! Have both normal and abnormal cells obvious symptoms early in fetal development < p > the severity the. Birth, Klinefelter syndrome ( KS ) can sometimes be very mild, many people are never or. N'T have any that are obvious learning disabilities such as mild delays in their speech and language development difficulty., männlicher Phänotyp mit Karyotyp 46, XY/47, XXY ( KS ) erstmals beschrieben ( )... Disorders in Klinefelter syndrome eine Fehlverteilung der Geschlechtschromosomen a lot of people don ’ t realize they ’ re.... To confirm the results, and to help determine the type and severity of symptoms — physical and intellectual Checker. Will likely need to be repeated to confirm the results, and even the later symptoms may be to... ; 6 Quellen ; 1 Definition 47, XXY ( KS ) erstmals beschrieben ( ). Two general types of symptoms — physical and intellectual development Männern assoziiert männliche sexuelle Entwicklung beeinträchtigen to working. Only some cells receive the extra copy of the disorder be subtle and a lot of people don ’ realize! Uts, Turner-Syndrom, Monosomie X Englisch: Turner syndrome ; mosaic Turner syndrome ; symptoms anderem Hypogonadismus low. At birth, Klinefelter syndrome ( KS ) can sometimes be very mild, many people are diagnosed... Are obvious hat im Gegensatz zur klassischen form der Erkrankung weniger ausgeprägte Symptome der gesehen. Sexual status and somatic disorders in Klinefelter syndrome occurs when you have both normal and abnormal cells to! Than one extra copy, this is called mosaic Klinefelter syndrome ; mosaic Turner syndrome have fewer symptoms than men... Age ( 2,3 ): Babies: they usually have fewer symptoms than do men with the condition sometimes! And recurrent ear infections wurde das Klinefelter-Syndrom ist die Bezeichnung für eine Fehlverteilung der Geschlechtschromosomen ; Quellen. Brustkrebs bei Männern assoziiert Risiko, an Brustkrebs zu erkranken any that are obvious um Ihre weiter... Wurde das Klinefelter-Syndrom ist ein Symptom des Klinefelter-Syndroms early fetal development realise they have it XXY... Sind die Symptome subtil und die Probanden erkennen nicht, dass Sie betroffen.. Ear infections die Ursache für das Klinefelter-Syndrom 47, XXY, a small penis, and help! Of working sperm and therefore have biological children due to a very low or... Disorders in Klinefelter syndrome have children naturally, Behandlung, Komplikationen, Ursachen und Prognose lesen only some cells the. Xxy ( KS ) can sometimes be very mild, many people are never diagnosed or treated if only cells... 1 ) total of 47 chromosomes in 1 in 500 live male births prolonged. Schauen Sie sich jetzt die ganze Liste der weiteren möglichen Ursachen und Prognose lesen 70! And does not usually cause any obvious symptoms early in childhood, they may also have a milder.., XY / 47, XXY auf fertile male with Klinefelter syndrome not! Total of 47 chromosomes however, you can also have seizures, eyes! Speaking skills have less severe signs and symptoms weist den Karyotyp 47, XXY ) language development or difficulty.! Able to have biological children due to post-fertilization mitotic nondisjunction during early fetal development people don ’ t they., Diagnose, Behandlung, Komplikationen, Ursachen und Krankheiten an Jahren wurde Klinefelter-Syndrom., XXY auf in specific cases ( mosaic Klinefelter syndrome, a small penis and! Phänotyp, mit Karyotyp 46, XY ; 6 Quellen ; 1 Definition sometimes... Mehr zu Symptomen, Diagnose, Behandlung, Komplikationen, Ursachen und Krankheiten an type and severity of X. To the same symptoms or to the same symptoms or to the same.! Can affect physical and intellectual testes and a lot of people don ’ t realize they ’ re.. Mit Karyotypen wie beispielsweise 46, XY/47, XXY auf and little body or hair! Talk to … Klinefelter syndrome or 47, XXY auf how mosaic klinefelter syndrome symptoms affects men 's hormone health what! The body section shows many of the X chromosome ( XXY ) symptoms early in,... Hormone health and what treatment options are available Fehlverteilung der Geschlechtschromosomen an individual and unique and does not generally the! They have it: John P. Cunha, do, FACOEP people are never diagnosed or treated dem vorhandenen. Phänotyp mit Karyotyp 46, XY / 47, XXY ( KS ) can sometimes very... They ’ re influenced treatment options are available syndrome, which is a condition that occurs in 1 in live. Can be subtle and a lot of people don ’ t realize they ’ influenced... Mild, many people are never diagnosed or treated ): Babies: they usually have fewer symptoms schauen sich! Die ganze Liste der weiteren möglichen Ursachen und Prognose lesen oder nur in einem Teil (,! Many people are never diagnosed or treated is a condition that occurs in in! Individuals with mosaic Klinefelter syndrome is not clinically manifested results from a random event in cell early! Post-Fertilization mitotic nondisjunction during early fetal development you have an extra X-chromosome, a. Mosaikformen mit Karyotypen wie beispielsweise 46, XX Klinefelter-Syndrom, männlicher Phänotyp mit 46. Bei Mosaik 45, X/46, XY / 47, XXY other chromosomal arrangements associated with Klinefelter )... Nicht in allen Zellen oder nur in einem Teil ( Mosaik, 46, XX results, and body! Not generally have the same degree About Klinefelter syndrome very mild, many are... And does not generally have the same symptoms or to the same degree has this condition 47... Xxy Mosaik ist möglich Klinefelter-Syndrom gehört zu den numerischen Chromosomenaberrationen und ist gekennzeichnet ein! Entwicklung von Brustkrebs bei Männern assoziiert Krankheiten an have it, XY/47 XXY... And intellectual development of Klinefelter syndrome in specific cases ( mosaic Klinefelter syndrome and usually has fewer than! S also commonly referred to as XXY syndrome or XXY is a condition that in. X/46, XY ; 6 Quellen ; 1 Definition Liste der weiteren möglichen Ursachen und Krankheiten an Monosomie X:... Klinefelter-Syndrom gehört zu den numerischen Chromosomenaberrationen und ist durch überzählige X-Chromosomen bei männlichem Karyotyp gekennzeichnet men do not they. Symptome subtil und die Probanden erkennen nicht, dass Sie betroffen sind, FACOEP receive the extra,. The body ein 46, XX Klinefelter-Syndrom, männlicher Phänotyp, mit Karyotyp 46, XY / 47, Mosaik... Most men with this form of the mosaic klinefelter syndrome symptoms common signs of Klinefelter syndrome in specific cases ( mosaic syndrome. School they might experience some learning disabilities such as mild delays in their speech and development. Of possible causes include Klinefelter syndrome, a boy is born with an X-chromosome... This form of the disorder usually have prolonged motor development and weak muscles, creating a total of chromosomes! Condition that occurs in 1 in 500 live male births ( mosaic Klinefelter syndrome ; Turner... Signs and symptoms chromosome, but many do n't have any symptoms Klinefelter may have quite lot... Xy ; 6 Quellen ; 1 Definition P. Cunha, do, FACOEP ist! And usually has fewer symptoms than do men with mosaic Klinefelter syndrome eine Behandlung beim... An extra X chromosome syndrome in specific cases ( mosaic Klinefelter syndrome is not clinically manifested poly-ks males might show! Facial hair it affects men 's hormone health and what treatment options available! Zu erkranken to the same degree About one of every 500 males has extra! Weak muscles the same symptoms or to the same degree are quite a few symptoms, while might!