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Klinefelter's Syndrome

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by

Maura Zurfluh

on 29 March 2013

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Transcript of Klinefelter's Syndrome

Klinefelter's Syndrome XXY Klinefelter's Syndrome is a genetic abnormality resulting in an extra X chromosome in a male, the resulting chromosome 23 pair is XXY In much less common variants, there are more than one extra X chromosome, these variants are often named by the number of total and the spelled-out sex chromosomes.
The karyotype above shows 49 XXXXY Symptoms Gynecomastia Excess Breast Tissue Taller than average frame Wider hips than other males No effect on intelligence Reading or speech issues are more likely Infertility Less muscle mass than other males Many cases of Klinefelter's Syndrome go undiagnosed until those men are unable to have children. Small or underdeveloped testes Testosterone Estrogen Klinefelter's Syndrome causes a hormonal imablance, as the body produces more estrogen than usually found in a male. This imbalance is what causes many of the symptoms of Klinefelter's. Female hormone Male hormone Variations: Mosaic Klinefelter's Syndrome In this variation, only some cells have an extra X chromosome, while others have a normal pair (XY). 46, XY/47, XXY Also called: This disease affects only males, but is not fatal. What is Normal? Males Females A normal female has only two X chromosomes XX XY A normal male has one X and one Y chromosome Comes from Comes from In reproduction, the sperm meets with the egg to create a zygote. A zygote is a fertilized egg, the earliest stage of an embryo. Usually... Each gamete (sex cell) carries one of each chromosome, instead of the pairs found in other body cells. When the two combine, the resulting zygote has a full set of 23 pairs of chromosomes. The 23rd pair determines the gender of the offspring, either XX or XY. However... Sometimes, an error occurs in meiosis, causing one of the gametes to carry an extra chromosome. In the case of Klinefelter's, an extra X chromosome is given to the offspring due to a random nondisjunction event during meiosis. This can occur in either the sperm or the egg. Nondisjunction in meiosis I of the sperm Male (Sperm) Female (Egg) Cause OR... Cause Nondisjunction in meiosis II of the egg Male (Sperm) Female (Egg) Variants Variants of Klinefelter's Syndrome are much less likely with a 1 in 50,000 chance as opposed to about a 1 in 500 chance of 47 XXY.
In these patients, the symptoms will often be more pronounced due to the amount of extra X chromosomes. 48 XXXY 49 XXXXY Chances of 47 XXY: 1 in 500 Chances of a Variant: 1 in 50,000 ? Did you know... About 65%* of people with Klinefelter's have not been diagnosed? *Estimate Many famous leaders, including ...May have had Klinefelter's Syndrome, based on post-mortem diagnostics. Napoleon Bonaparte George Washington and Klinefelter's is a sex chromosome abnormality. Tests The most common test done is a karyotype. However, a man with fertility issues will most likely get a sperm count done. A hormone analysis can also serve as an initial test. These can prompt a doctor to order a karyotype. Treatments There is no cure for the syndrome, however symptoms can be managed with hormone treatments. Paitents can take testosterone injections to counteract the effects of the estrogen. Phenotype Adolescent male with Klinefelter's Note the presence of breasts, about 40% of males with the disease have gynecomastia.
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