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  1. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue.

  2. Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a male has an extra X chromosome. These complications commonly include infertility and small, poorly functioning testicles (if present). These symptoms are often noticed only at puberty, although this is one of the most common chromosomal disorders, occurring in one to two per 1,000 live births.It is named after American endocrinologist Harry Klinefelter, who identified the condition in the 1940s.. The syndrome is ...

  3. Oct 9, 2023 · Klinefelter syndrome is a genetic disorder in which people assigned male at birth (AMAB) have an additional X chromosome in their genetic code. Most people AMAB have 46 chromosomes (packages of DNA). This includes one copy of an X chromosome and one copy of a Y chromosome (46, XY). People with Klinefelter syndrome have a total of 47 chromosomes (47, XXY).

  4. Sep 11, 2023 · Klinefelter syndrome, also known as XXY syndrome, is a condition in boys and men that’s caused by an extra X chromosome. It can affect physical and mental development.

  5. Klinefelter syndrome is a sex chromosome disorder in individuals who were assigned male at birth that results from the presence of an extra X chromosome in cells. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Females typically have two X chromosomes (46,XX), and males typically have one X and one Y chromosome (46,XY). Most often, people with Klinefelter syndrome have the usual X and Y chromosomes, and one extra X chromosome, for a total of 47 ...

  6. May 19, 2019 · Klinefelter syndrome is associated with an increased risk for breast cancer, a rare tumor called extragonadal germ cell tumor, lung disease, varicose veins and osteoporosis. Men who have Klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's syndrome. What are the symptoms of Klinefelter syndrome?

  7. Feb 27, 2022 · Klinefelter syndrome is a genetic disease that causes males to be born with an extra copy of the X chromosome. Learn about its symptoms, causes, and treatments.

  8. The main tests used to diagnose Klinefelter syndrome are: Hormone testing. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. Chromosome analysis. Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. A blood sample is sent to the lab to check the shape and number of chromosomes.

  9. www.nhs.uk › conditions › klinefelters-syndromeKlinefelter syndrome - NHS

    Klinefelter syndrome is not directly inherited – the additional X chromosome occurs as a result of either the mother's egg or the father's sperm having the extra X chromosome (an equal chance of this happening in either), so after conception the chromosome pattern is XXY rather than XY. This change in the egg or sperm seems to happen randomly. If you have a son with the condition, the chances of this happening again are very small.

  10. Klinefelter syndrome is a sex chromosome abnormality in which boys are born with two X chromosomes, instead of one, and one Y (XXY). Klinefelter syndrome occurs when a boy has one extra X chromosome. Boys may have learning disabilities, long arms and legs, small testes, and sometimes enlarged breasts. The diagnosis is suspected at puberty when most of the symptoms develop.

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