Turners+syndrome

Turners syndrome **Define and explain the genetic disease/syndrome you have been assigned. ** The genetic syndrome I have been assigned is the Turners Syndrome. Its a chromosomal condition in which there is an alteration in the development of females. It is known to be a medical disorder and affects about 1 girl in every 2,500. Researchers don’t know the exact gene that is in charge for the symptoms and signs of the disease; they just know that it is caused because of problems on the females chromosomes. If the syndrome is diagnosed on an early stage of a girl’s life it can be treated with growth hormones, otherwise they will be short in height and reach an average of 1.4 meters .(Turner Syndrome, KidsHealth)

[] **Explain how your genetic disease occurs- gene or chromosomal mutation. **

Humans when born have 46 chromosomes. They contain your DNA as well as your genes. Two out of the 46 chromosomes determine whether you’ll be a boy or a girl. Girls are normally born with two X chromosomes known as (XX). A girl with the Tuners Syndrome may be born with one X chromosome, have one part of it missing, or a number of of her cells have two X chromosomes but the others one. Tuners disease affects girls in different ways due to the fact that not all girls have the same amount of body cells affected due to the changes that happened to the X chromosome. This disease prevents ovaries from developing the way they should, affecting the sexual growth of the girl and her aptitude of having children. Since ovaries are in charge of producing the hormones that control a girls menstruation and also her breast development. Girls who have the syndrome and aren’t treated are most likely to not go through puberty, and most of them will be infertile. (Genetic Features of Turner Syndrome, NIH)

[] []

(Turner Syndrome, MedicineNet) (Turner Syndrome, KidsHealth) (Turner syndrome, PubMed Health)
 * Explain the benefits and limitations of your genetic disease, these may include the identification process or how gene therapy and genetic engineering is being used. **
 * **Benefits ** || **Limitations ** ||
 * They are mostly diagnosed at birth or when there are no signs of puberty (blood test called: karyotype). || Most likely to not be able to have babies. ||
 * Most girls with the Tuners Syndrome live a normal life, not all of them have a medical condition || <span style="font-family: 'Times New Roman','serif'; font-size: 16px;">Dry eyes ||
 * <span style="font-family: 'Times New Roman','serif'; font-size: 16px;">They carry normal lives, they can hear properly, read and write. || <span style="font-family: 'Times New Roman','serif'; font-size: 16px;">Menstruation problems due to the ovaries not being able to produce the hormones that control menstruation. ||
 * <span style="font-family: 'Times New Roman','serif'; font-size: 16px;">If they want to have children they can have a donor egg can be put in her uterus and she might have a chance to have a baby. || <span style="font-family: 'Times New Roman','serif'; font-size: 16px;">Short in stature about 1. 4 meters <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">unless treated by the feminine growth hormones. ||
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">The Growth hormone treatment can improve a girl’s growth and influence a girl's final adult height. If the treatment is started at an early age, she might be able to grow as much as other girls her age. || <span style="font-family: 'Times New Roman','serif'; font-size: 16px;">Dryness in the vagina ||
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">The estrogen replacement treatment will help a girl develop the physical changes of adolescence such as having breasts and menstruation. Age for starting the treatment (12-13 years old) || <span style="font-family: 'Times New Roman','serif'; font-size: 16px;">No breasts due to the ovaries not producing the hormones that are in charge of breast development ||
 * || <span style="font-family: 'Times New Roman','serif'; font-size: 16px;">Swollen hands and feet ||
 * || <span style="font-family: 'Times New Roman','serif'; font-size: 16px;">Overweight ||
 * || <span style="font-family: 'Times New Roman','serif'; font-size: 16px;">Arthritis ||
 * || <span style="font-family: 'Times New Roman','serif'; font-size: 16px;">Scoliosis, usually occurs when they are adolescents ||
 * || <span style="font-family: 'Times New Roman','serif'; font-size: 16px;">Ear shape (lower) ||
 * || <span style="font-family: 'Times New Roman','serif'; font-size: 16px;">Kidney problems ||
 * || <span style="font-family: 'Times New Roman','serif'; font-size: 16px;">Webbed neck or smallness in the chin in happens in 60% of girl who have the Turners Disease ||
 * || <span style="font-family: 'Times New Roman','serif'; font-size: 16px;">Irregular bone development ||
 * || <span style="font-family: 'Times New Roman','serif'; font-size: 16px;">Diabetes ||
 * || <span style="font-family: 'Times New Roman','serif'; font-size: 16px;">Due to the body image of the girl, she will usually have self esteem problems. ||

media type="youtube" key="ldjb-FR-PKo" width="425" height="350" align="center"

[]


 * <span style="color: #800080; font-family: 'Times New Roman',serif; font-size: 12pt;">Discuss how social, economical, cultural and issues are associated with your disease/syndrome. **

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">The social aspect is associated with the Turners syndrome because young girls especially adolescents are usually picked on by their peers if they have any physical differences. These physical differences include short stature, webbed neck, swollen hands and feet, no breasts etc. The physical aspects of a young girl with the Turner syndrome can also cause a trauma or make her become very self-conscious. The problems caused by this disease can develop into immaturity, attention deficit disorder (ADHD), anxiety, emotional difficulties among other effects. One of the worst scenarios with this illness is that the greater percentage of patients is sterile and can’t have children. Due to the fact that medical technology has advanced, there are various solutions available, but it is very important to discover the syndrome as early as possible. (Turner syndrome, PubMed Health)

[]

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">The economical aspect is related to the Turners Syndrome as good medical care is required for those who suffer this disease. Many scientific discoveries have been done in relation to this illness and the form it is treated. Although there is not a definite cure, one of the major treatments involved is the growth hormones which permits a patient reach a normal height if started on an early age. Estrogen replacement is another treatment that can be taken by a Turners syndrome patient. This will allow the girl to go through puberty as a girl without the syndrome. This is an effective treatment since it can be started when the girl is 12 or 13 which gives the family plenty of time to know whether she has or not the Turners syndrome. Both of these treatments will benefit economically the doctors and scientists who figured out the possible treatments. As technology advances scientists will figure out a way in which they can prevent the chromosomal mutation from happening or figure out a cure. (Turner Syndrome, KidsHealth)

[] <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Works Cited <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">"Genetic Features of Turner Syndrome." Turner Syndrome - Home. N.p., n.d. Web. 12 Mar. 2012. <http://turners.nichd.nih.gov/genetic.html>.

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">"Medscape: Medscape Access." Medscape: Medscape Access. N.p., n.d. Web. 12 Mar. 2012. <http://www.medscape.org/viewarticle/445555>.

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">"Turner Syndrome." MedicineNet. N.p., n.d. Web. 12 Mar. 2012. <www.medicinenet.com/turner_syndrome/article.htm>.

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">"Turner Syndrome ." KidsHealth - the Web's most visited site about children's health. N.p., n.d. Web. 12 Mar. 2012. <http://kidshealth.org/teen/diseases_conditions/sexual_health/turner.html>.

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">"Turner syndrome - PubMed Health." National Center for Biotechnology Information. N.p., n.d. Web. 12 Mar. 2012. <http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001417/>.