mosaic klinefelter syndrome

Darunter verstehen Mediziner, dass die Anzahl oder die Struktur der Chromosomen gestört ist. According to epidemiological reports, the condition affects about 1 out of 1,000 of born male in the United States. There are varying symptoms and degrees of severity which may occur in males with Klinefelter syndrome. Klinefelter syndrome is one of the most common chromosomal disorders, affecting 1/500 to 1/1,000 newborn males. Klinefelter syndrome 47,XXY XXY syndrome or condition; XXY trisomy; 47,XXY/46,XY or mosaic syndrome (rare variation) Poly-X Klinefelter syndrome, including the following rare variations: 48,XXYY (or tetrasomy) 48,XXXY (or tetrasomy) 49,XXXXY (or pentasomy) Alternate Titles. Klinefelter syndrome can lead to weak bones (osteoporosis), varicose veins, and autoimmune diseases (when the immune system acts against the body), such as lupus or rheumatoid arthritis. Some boys with Klinefelter Syndrome develop breasts during puberty. Auf den Chromosomen sind unsere Erbinformationen gespeichert. Reubinoff BE, Abeliovich D, Werner M, Schenker JG, Safran A, Lewin A. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. The general regularity of the effect of the karyotype on the phenotype has not been identified, but patients with a mosaic karyotype with a normal male … [4] Klinefelter Syndrome Symptoms. It is mostly depending on where the tissue with the … 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. Klinefelter Syndrome Showing Most of the Characteristics. We report here a rare case of 47 XXY/46 XY mosaic Klinefelter's syndrome associated with multiple endocrine disorders. Learn more about Klinefelter syndrome, including how it affects men's hormone health and what treatment options are available. Although most men with non-mosaic Klinefelter syndrome (KS) have azoospermia [1, 2], it is well established that mature sperm cells can be found in testicular biopsies extracted from at least 40 % of them [].The mechanisms that enable sperm production in non-mosaic KS patients are still unknown, as is the genetic etiology for the presence or absence of sperm cells. Breast growth in males, even when not caused by Klinefelter’s, can make a teenage boy feel embarrassed, ashamed, and humiliated. This is written as XXY. Many boys with Klinefelter syndrome — also known as XXY syndrome — have no signs or symptoms, and some don't even know they have it until later in life. Klinefelter syndrome is a fairly common genetic condition found in males only. There are quite a lot of clinical options related to abnormalities of sexual status and somatic disorders in Klinefelter syndrome. 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. 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. Meeting with a reproductive specialist or genetic A 35-year-old male admitted for the evaluation of renal dysfunction and recurrent bone fractures was diagnosed as having Klinefelter's syndrome by endocrinological examinations and sex chromosome analysis. If an individual possesses more than one extra copy of the X chromosome, a more severe form of the disorder may be experienced. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. He had a total haemoglo-bin level of 11.2 g dl 1 and a mean corpuscular volume Background: Klinefelter syndrome (KS) mosaicism 46,XX/47,XXY is an extremely rare disorder of sex development characterized by the presence of both ovarian and testicular tissues in the same individual. Most men with Klinefelter syndrome are not able to have biological children due to a very low amount or lack of working sperm. Klinefelter syndrome (KS) is a sex chromosomal anomaly, which in most cases is characterized by 47 chromosomes instead of the usual 46. At birth, Klinefelter syndrome is not clinically manifested. Individuals with mosaic Klinefelter syndrome may have milder signs and symptoms, depending on how many cells have an additional X chromosome 5). Um das Klinefelter-Syndrom besser verstehen zu können, folgen hier einige Begriffserklärungen. If you have problems viewing PDF files, download the latest version of Adobe Reader. Klinefelter syndrome results when a boy is born with at least 1 extra X chromosome. This is called gynecomastia and is associated with significant psychological problems if left untreated. Often, symptoms are subtle and subjects do not realize they are affected. Men with Klinefelter syndrome. Mosaic Klinefelter syndrome 46,XX is a rare entity. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. Introduction. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor … From GHR Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. It can affect physical and mental development. Hum Reprod. PubMed CrossRef PubMedCentral Google Scholar Klinefelter syndrome can cause problems with learning and sexual development in guys. 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). To determine whether men with Klinefelter syndrome (KS) have the same phenotype as men with mosaic KS. For language access assistance, contact the NCATS Public Information Officer. The primary features are infertility and small poorly functioning testicles. Patients with non-mosaic Klinefelter syndrome are generally azoospermic because of primary testicular failure, although in some cases focal spermatogenesis is present and testicular spermatozoa have been recovered and successfully used for ICSI (Palermo et al., 1998; Reubinoff et al., 1998). 1998;13(7):1887–92. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. Ask your doctor about internet resources and support groups that may help answer questions and ease concerns. Introduction. While rare, a more severe form of Klinefelter can occur if a male has more than one extra copy of the X chromosome. A birth in non-mosaic Klinefelter’s syndrome after testicular fine needle aspiration, intracytoplasmic sperm injection and preimplantation genetic diagnosis. Klinefelter syndrome, also known as XXY syndrome, is a condition in boys and men that’s caused by an extra X chromosome. If you have Klinefelter syndrome, you may benefit from these self-care measures: Work closely with your doctor. births in non-mosaic Klinefelter’s syndrome following ICSI is very low and this is only the eighth case reported in the literature.10–14 It has been reported that only normal 46,XY cells can complete meiosis15 and therefore any spermatozoa produced in patients with Klinefelter’s syndrome are likely to have a normal karyotype. These males can have the same or milder symptoms than non-mosaic Klinefelter syndrome. mosaic Klinefelter’s syndrome incidentally diagnosed in adulthood, but with very different degrees of phenotypic manifestation. Mosaic Klinefelter syndrome occurs when some of the cells in the body have an extra X chromosome and the others have normal male chromosomes. Despite the diagnosis of non-mosaic Klinefelter syndrome, numerous groups have identified discrepancies between a given patient's peripheral blood and spermatozoa karyotype. Both elements can be present in the same gonad (ovotestis) or separately in the same individual or as a unilateral ovotestis and the other side with testis or ovary. Some people with features of Klinefelter syndrome have the extra X chromosome in only some of their cells; in these individuals, the condition is described as mosaic Klinefelter syndrome (46,XY/47,XXY). Early recognition and hormonal treatment of the disorder can substantially improve quality of life and prevent serious … Mosaic Klinefelter syndrome cases have variable and less severe phenotypic properties than the classic type. Statistics show that about 250,000 are affected by the syndrome. XXY Syndrome. Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - … When this occurs it is called mosaic Klinefelter syndrome. Epidemiology The estimated incidence is 0.15-0.2% of live births. Since early male Association of lateral ovotesticular disorder with KS 46, XX/47, XXY requires an interdisciplinary approach for early diagnosis to resolve sex reassignment issues. Some men that have mosaic Klinefelter syndrome may be able to produce working sperm and therefore have biological children. It is now known that the rate of aneuploidy in KS sperm is approximately 5–7% compared to the established 1% in fertile men and the 4% in men with genetically normal, non-obstructive … Klinefelter-Syndrom: Ursachen und Risikofaktoren. This condition is known as the mosaic Klinefelter syndrome. Klinefelter syndrome is a common condition, and you — and your son — aren't alone. It's a genetic condition (meaning a person is born with it). Symptoms of Klinefelter syndrome. In some cases, the … Klinefelter syndrome only affects males. Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood, results when a boy is born with an extra copy of the X chromosome. Das Klinefelter-Syndrom beruht auf einer Chromosomenaberration. XXY males have an increased risk for breast cancer and cancers that affect blood, bone marrow, or lymph nodes, such as leukemia. 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