Benefits Of Klinefelter Syndrome

People with this inherited disorder are likely to develop several kinds of tumors, including, in some cases, renal cell carcinoma.

The prevalence of Klinefelter syndrome appears to be approximately 1 in 660 males, and recent data suggest a rising incidence over the last decades. (58) It is the most frequent form of primary testicular dysfunction affecting spermatogenesis as well as hormone production and is found in

Klinefelter's Syndrome is a genetic disorder that only affects men. Those affected are born with an extra X chromosome (Belts & Frey, 2006). In 1942, Dr. Harry Klinefelter released a study concerning nine men who had little to no facial hair, enlarged breasts, small testicles, and were unable to produce sperm. The name of this syndrome originated from Dr. Klinefelter's name (Kenny & Henderson, 2015). This disease is often abbreviated as KS or referred to as 47 XXY. It is referred to as 47 XXY because of the extra chromosome in patients (Schoenstadt, 2016).

This is when a male is born with more then one X chromosome, and can be be found in varying amounts. Klinefelter's patients are fine until they reach puberty, which is where there testosterone levels decrease extremely. This can lead to sterilization, learning disabilities and emotional insecurities. There is no cure, but the children can see a speech therapists, as well as get monthly testosterone shots to development more normally. PKU is a genetic disease that is a rare metabolic disorder caused by a phenylalanine hydroxylase deficiency. It is an autosomal recessive disorder that is incurable, causes mental incapacity. There is no way to treat the patient completely, but they can stay on a specialized diet to prevent an increase in the mental instability. It effects the nervous systems and its creation of nerve cells and neurotransmitters in the brain. PKU varies in up to 400 types and affect every one in about 15,000 a year in the United States. The signs and symptoms are not relevant until about one year old. The most popular to test for PKU is using blood from a babies hell and the Guthrie bacterial inhibition assay. PKU is confirmed by the presence of bacteria growing on high concentration of PAH. Mothers must be extremely careful, because if too much PKU is in their diet they can cause brith disorders such as

A genetic disorder is a genetic condition, originally caused by a DNA abnormality. Genetic disorders can be inherited or can form early, in the development of child’s womb. Marfan syndrome is a genetic disorder that affects the body’s connective tissues in many parts of the human body. These specific connective tissues are made with the help of fibrillin, to produce elastic fibers, which are essential for connective tissues. The connective tissues are the tissues that provide strength and flexibility to many structures such as the bones, blood vessels, ligaments, muscles, and heart vessels. Connective tissues also allow the body to grow and develop properly. Marfan syndrome occurs when there is a mutation in the gene, specifically what tells

“[Twenty-five] Important Klinefelter Syndrome Statistics. Klinefelter syndrome [KS] is a genetic chromosomal condition that affects only men.” (healthsearch funding.org.) Klinefelter Syndrome causes changes to their cognitive and physical development.The Klinefelter syndrome affects a lot of sex characteristics the origin of this syndromes discovery was in 1442 by a doctor named Harry Klinefelter and his co-workers when they first described the features that is known as Klinefelter Syndrome. Klinefelter syndromes symptoms are diagnosed according to what causes Klinefelter syndrome. The syndrome is not inherited it is a random mutation. Doctors after diagnosis, will prescribe/suggest treatment that will not get rid of the syndrome. Klinefelter syndrome is generally found in any age of the male sex.

A genetic disorder is an illness that is caused by one or multiple abnormalities in the genome. Genetic disorders are not unusual, however when a genetic disorder occurs it usually happens in one and every thousand or million persons. Sometimes genetic disorders can or cannot be heritable, meaning passed down from the parents to their offspring. Often times the parents are unaware that they can carry over a genetic disorder to their offspring. When genetic disorders that does not occur from the parent, it can mean that the cause for the genetic disorder is caused by a new mutation or changes in the DNA. Most cellular structures consist of proteins that carry out to work and to perform life functions. When a gene is disrupted in a way that the proteins no longer carry out a normal function, a disorder can occur.

Syndromes and deformations occur while the child is still in the womb of the mother. Syndromes such as, Edwards Syndrome, Klinefelter's Syndrome, Bloom Syndrome, and Turner Syndrome, research shows that a variety of these deformations occur with complications regarding the chromosomes( shown on karyotype chart). Most of these complications are not hereditary or genetically passed through the parents. All though these syndromes are not hereditary or genetically passed the life expectancy of these unfortunate beings goes no higher than twenty-seven years, some do not even survive childbirth.

The most common karyotype is the paternal 47,XXY which account for over three fourths of those with Klinefelter’s syndrome, but there are a small number of cases (10-20%) that have a “mosaic karyotype, 46,XY, 48,XXY or 48,XXYY.” (Maiburg, 2012). It is believed that Klinefelter’s syndrome develops after sister chromatids fail to separate correctly or separate early during meiosis I, and this is thought to be the main cause of infertility (Maiburg, 2012, pg 254). Males can inherit this from either their mother or their father, although the nondisjunction happens at different stages of meiosis, if inherited from the mother it could have happened during meiosis I or II, whereas in the father it has to happen during meiosis I (Maiburg, 2012, p 254). Just like with other genetic disorder’s age of the parents, particularly the mother, also play a sizeable role, in the development of Klinefelter’s

Genetic disorders or heredity diseases are disorders that are caused by a missing gene, abnormal gene, or chromosomal characteristic (The Free Dictionary, 2007). There are to me found many genetic disorders. Klinefelter syndrome is an example of a genetic disorder. Klinefelter syndrome affects the male rather than female (“47, XXY”, 2016).

Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals.Children with Klinefelter syndrome may have learning disabilities and delayed speech and languaage development. They tend to be quiet sensitive and unassertive but personality characteristics vary among affected individuals. Klinefelter syndrome is found in about 1 out of every 500-1000 newborn males. The additional sex chromosome results from a random error during the formation of the egg or sperm. About half of the time the error occurs in the formation of sperm, while the remainder are due to errors in egg development. Women who have pregnancies after age 35 have a slightly increased

(Blecher, 2014) This is usually found in 3 to 5 boys in every 100. ‘’ Men with a history of undescended testes have about ten times the chance of testicular cancer; the risk may be lower if surgery is used to fix the problem which usually happens before one year of age.’’ (Blecher, 2014). Another risk factor, is previous testicular cancer. This affects ‘’about 1 in 25 men who have had testicular cancer in one testis develop cancer in the other testis’’. (Blecher, 2014). Previous male infertility is also another risk factor in testicular cancer. It is shown that ‘’Men diagnosed with fertility problems, particularly those with a history of undescended testes, may have a greater chance of developing testicular cancer’’. (Blecher, 2014). This is due to ‘’pre cancers cell sometimes found in testicular biopsies from infertile men’’ (Blecher, 2014), however this does not conclude that all pre cancer cells will develop into cancer. Furthermore, family history is also considered as a risk factor. Testicular cancer can also be through family and therefore if a family member is diagnose with the cancer, there is a minor risk that someone else is also going to get it. Men who suffer from Down syndrome will also be at a higher genetic risk of testicular cancer due to genes mutation.

A genetic disorder, such as DiGeorge syndrome, is an illness caused by one or more abnormalities, which can be passed down through parents, DNA, or mutations. DiGeorge syndrome (DGS) is a rare type of a genetic disorder which is caused by the deletion of chromosome 22. DiGeorge syndrome affects many parts of the body and has a prevalence of 1: 4000

It’s a beautiful thing to conceive life’s bundle of joy, and another to conceive a child suffering from genetic disorders. Inheriting altered genes through autosomal dominant, autosomal recessive, X-linked dominant and X-linked recessive are potential leads to genetic disorders in offspring (Health Direct Australia, 2014).

Due to the wide variability of the many symptoms and effects, affected males with KS may have all of the symptoms and some may only have a few of the effects. Common symptoms are sparse body hair, tallness, infertility, small testes, and gynecomastia. As said before, many males with Klinefelter syndrome do not show many of these effects on the body but that does not mean that