Turners Syndrome

Created by Xavier Lee

What's the cause ?

Turners syndrome is a rare chromosomal abnormal condition only found in females. The cause of this is by partially or completely losing one of the X chromosomes

Symptoms

Symptoms include short stature, delayed puberty, differences in general appearances, infertility, heart defects, high blood pressure, osteoporosis and certain learning disabilities.

What's going on in the body ?

The chromosomal abnormalities is caused by having only one sex chromosome , an X

The general appearance is due to obstruction of lymphatic system during fetal development.

The loss of SHOX gene(short stature homeobox) is the cause of people with turner short stature.

Without the X chromosome to regulate the development and functions of the ovary, puberty does not come at a normal period of time. This also affects ovarian function or healthy leukocytes capable of fertilization.

The 5-10% of children with Turner Syndrome are found to have severe constriction of the major blood vessel coming out from the heart. 30% of individuals have "bicuspid aortic valves", which means that the major blood vessels from the heart only has 2 instead 3 components.

Individuals diagnosed with osteoporosis is caused by inadequate circulating estrogen in the body.

People with Turner Syndrome are 2 times the risk of developing type II diabetes. The exact is unknown, it appears to be caused by the insufficient insulin release in response to glucose

Certain learning disabilities are coursed by the loss of X-chromosome that is important for selected aspects of the nervous system development.

Treatment

Hormone replacement therapy is the best way to treat this disorder. Teenagers are treated with growth hormone to help them reach a normal height. They may also be given low doses of androgens (male hormones that females also produce in small quantities) to increase height and encourage hair and muscle growth. Some patients may take the female hormone estrogen to promote sexual development.

For some heart defects surgery is required, the high blood pressure is often monitored or treated with medications.

Preventions

There's no known prevention to stop Turners syndrome because it's a random disorder that accurs.

A prenatal screening and diagnostic can be preformed in unteral. To see if they baby is diagnosed.

But it's very rare if you have Turner syndrome and are given the gift to a have child there a a few number of girls who have gave birth.

Facts

  • Turner Syndrome affects 60,000 females in the United States. This disorder is seen in 1 of every 2000 to 2500 baby girls, with about 800 new cases diagnosed each year.
  • In 75-80% of cases, the single X chromosome comes from the mother's egg; the father's sperm that fertilizes the egg is missing its sex chromosome.
  • Turner syndrome is named for Dr. Henry Turner, who in 1938 published a report describing the disorder.
  • The average height of an untreated woman with Turner syndrome is 4 feet 8 inches
  • This condition is also called Gonadal dysgenesis

Video Exsplanation

Sources

Works Cited

"Genetics Basics." Centers for Disease Control and Prevention. Centers for Disease Control and Prevention, 03 Mar. 2015. Web. 04 Jan. 2016.

"Turner Syndrome." Turner Syndrome. N.p., n.d. Web. 04 Jan. 2016.

"Turner Syndrome." WebMD. WebMD, n.d. Web. 04 Jan. 2016.