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Turner Syndrome priya

Page history last edited by priyam 7 years, 7 months ago

What Is A Genetic Disorder?

     A genetic disorder is inherited. It happens when a mutated is passed down through a family, and each generation of children can inherit the gene that causes the disease. Some genetic disorders can be caused mutation in one gene, mutation in multiple genes and environmental factors, or by damage to the chromosomes. For example some genetic disorders are due to problems with the number of chromosomes. Genetic disorders can be put into three different categories, monogenetic disorders, multifactorial inheritance disorders, and chromosome disorders. Monogenetic disorders are usually because of mutation in a single gene. This mutation can be present in one chromosome or both. Multifactorial inheritance disorder is cause by a variation of small inherited disorders in genes and most times they are acting together with environmental factors. Chromosome disorders are caused by structural changes in chromosomes, or by the excess or deficiency of the genes that are located in chromosomes. 


Turner Syndrome


     The history of Turner syndrome began in 1938, when Henry Turner described seven patients (between the ages of 15 and 23) had been referred to him because they thought they had dwarfism, and because of their lack of sexual development. He treated them with pituitary extracts, but it didn't work. Since then, other studies have been done so that our knowledge of Turner Syndrome is more detailed.


      Turner Syndrome is a medical disorder that affects every 1 in 2,500 girls. It occurs when a girl is born with only one X chromosome, or when she is missing part of the second one. Girls are normally born with two X chromosomes.  Researchers don't know exactly what it is that causes Turner Syndrome, but they do know that it's because of a problem with a girls' chromosomes. Girls that have Turner Syndrome are usually short. If they aren't treated for their short stature, they reach a height of about 4 foot 7 inches. Turner Syndrome is diagnosed while a girl is still growing, and she can be treated with growth hormones to help her grow taller. 


     There are many different symptoms of Turner Syndrome. The effects Vary depending on how many of the cells in the body is affected by the missing X chromosome. Aside from growth problems, Turner Syndrome prevents a girls ovaries from developing. This affects the ability of a girl to have children, and it affects her sexual development. Girls with Turner Syndrome won't be able to go through puberty, because their ovaries haven't developed, and the ovaries are responsible for creating hormones that cause the changes to happen. Unless they get treatment, almost all girls with Turners Syndrome will be infertile, and can't get pregnant on their own. The following is a list of health problems that girls with Turner Syndrome have:

  • Kidney problems
  • Diabetes
  • Hearing problems
  • Overweight
  • High blood pressure
  • Thyroid problems

There are also a number of physical features present in girls with Turner Syndrome:

  • Abnormal Bone development
  • Webbed Neck
  • Low hairline at the back of the neck
  • Drooping eyelids
  • Differently shaped ears
  • extra fluid in the hands or feet 


      Since Turner Syndrome is a chromosomal abnormality, there isn't a specific cure for it, but there are treatments that correct some of the problems associated with it. For example, since girls with Turner Syndrome don't grow past a certain height, they can be treated with growth hormones that will allow them to grow. Another problem is that they can't go through puberty, and a treatment for that is estrogen replacement. The estrogen replacement helps the girl go through the physical changes of puberty. This treatment takes place when i girl is around 12-13. A technique called in vitro fertilization can make it possible for the girl to become pregnant. In vitro fertilization is when a donor egg is used to create an embryo, which is then placed in the uterus of the woman.


     Gene therapy is the introduction of genes into a persons' DNA to treat a disease. It is a medical technology which involves adding DNA to the human genome to replace a defective gene, or to provide a gene the body can use to fight the disease. The technology is still beginning to be used, but it has been used to treat genetic disorders successfully. Gene therapy isn't used in treating girls with turner syndrome. This is because Turner Syndrome is a problem with the chromosomes. 

















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