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Turner Syndrome Conner Cartwright Michael Rutkowski Carter Valente Stephen Zelenka

Only occurs in females Effects about 1 in every 2,500 births Caused when a girl is missing a part of the X sex- chromosome

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Page 1: Only occurs in females  Effects about 1 in every 2,500 births  Caused when a girl is missing a part of the X sex- chromosome

Turner SyndromeConner CartwrightMichael Rutkowski

Carter ValenteStephen Zelenka

Page 2: Only occurs in females  Effects about 1 in every 2,500 births  Caused when a girl is missing a part of the X sex- chromosome

Causes of Turner Syndrome

Only occurs in females Effects about 1 in every 2,500 births Caused when a girl is missing a part of the X sex-

chromosome

Page 3: Only occurs in females  Effects about 1 in every 2,500 births  Caused when a girl is missing a part of the X sex- chromosome

Symptoms of Turner Syndrome

Seen in young females: Swollen hands and feet Wide and webbed neck

Page 4: Only occurs in females  Effects about 1 in every 2,500 births  Caused when a girl is missing a part of the X sex- chromosome

Symptoms of Turner Syndrome

Seen in older females: Absent or incomplete development at puberty,

including sparse pubic hair and small breasts Broad, flat chest shaped like a shield Drooping eyelids / Dry eyes Infertility No periods Vaginal dryness Short height

Page 5: Only occurs in females  Effects about 1 in every 2,500 births  Caused when a girl is missing a part of the X sex- chromosome

Health Issues

Kidney problems High blood pressure Heart problems Some become overweight Hearing difficulties Diabetes & Thyroid problems

Page 6: Only occurs in females  Effects about 1 in every 2,500 births  Caused when a girl is missing a part of the X sex- chromosome

Other Issues

Some girls with the condition may experience learning difficulties, particularly in math

Many have a difficult time with tasks that require skills such as map reading or visual organization

Because Turner syndrome can affect how a girl looks and develops, some girls may have problems with body image or self-esteem

Page 7: Only occurs in females  Effects about 1 in every 2,500 births  Caused when a girl is missing a part of the X sex- chromosome

Scenario

Cindy, 38, is expecting her 3rd child. She already has 2 healthy kids. Due to her age, her doctor recommends that amniocentesis be done at 16 weeks post-conception. The karyotype reveals that the child has Turner’s Syndrome. Cindy and her husband are recommended to a genetic counselor.

Income: $75,000 Insurance: Self-Insured

Page 8: Only occurs in females  Effects about 1 in every 2,500 births  Caused when a girl is missing a part of the X sex- chromosome

Treatment

Growth hormone injections are done to increase the female’s final adult height.

Estrogen replacement therapy is usually started at the time of normal puberty, around 12 years to start breast development. Estrogen and progesterone are given a little later to begin a monthly 'period,' which is necessary to keep the womb healthy. Estrogen is also given to prevent osteoporosis.

Page 9: Only occurs in females  Effects about 1 in every 2,500 births  Caused when a girl is missing a part of the X sex- chromosome

Treatment

Girls who have Turner syndrome are more likely to get middle ear infections. Repeated infections may lead to hearing loss and should be evaluated by the pediatrician. An ear, nose and throat specialist (ENT) may be involved in caring for this health issue.

Blood pressure should be checked routinely and, if necessary, treated with medication

Page 10: Only occurs in females  Effects about 1 in every 2,500 births  Caused when a girl is missing a part of the X sex- chromosome

Treatment

Women who have Turner syndrome have a slightly higher risk of having an under active thyroid or developing diabetes. This should also be monitored during routine health maintenance visits and treated if necessary.

Having appropriate medical treatment and support allows a woman with Turner syndrome to lead a normal, healthy and happy life.

Page 11: Only occurs in females  Effects about 1 in every 2,500 births  Caused when a girl is missing a part of the X sex- chromosome

Cost

The cost of Turner’s Syndrome would is very expensive considering all of the doctor visits, testing, growth hormones, and counseling.

Page 12: Only occurs in females  Effects about 1 in every 2,500 births  Caused when a girl is missing a part of the X sex- chromosome

Support Groups:

http://www.turnersyndrome.orgThere is a local branch for young women with Turner’s.