TURNER SYNDROME PRESENTED BY SHAINA GONG AND THEANNE LIU

WHAT IS TURNER SYNDROME? Turner’s Syndrome is a genetic disorder that affects the female development. It is caused by the complete or partial absence of the second sex chromosome. This condition occurs in about 1 in 2,500 female births.

WHAT ARE THE SYMPTOMS? Shorter than average height Non-functioning ovaries (infertile) Wide neck (webbed neck) Swollen hands and feet (lymphedema) High blood pressure Arms that turn slightly at elbow Broad chest Low hairline Heart/kidney defects

HOW DO PEOPLE GET THE DISORDER? Females with Turner syndrome are missing one X chromosome, usually as a result of nondisjunction. Nondisjunction is when a pair of sex chromosomes fail to separate during meiosis. This abnormality is not inherited from an affected parent because females with Turner syndrome are usually sterile. In 20% of those with Turner syndrome, the X chromosome is abnormal in shape or missing some genetic material.

HOW DO PEOPLE GET THE DISORDER? A gene missing from the X chromosome causes long bone growth, explaining why those affected with Turner syndrome are much shorter. However, the specific genes that are responsible for the majority of the symptoms of Turner syndrome have yet to be identified. 30% of females with the disorder do not have the X chromosome missing in all of their cells. This is known as mosaicism. Their symptoms are not as strong because they have some XX cells.

WHAT IS LIFE LIKE FOR THE AFFECTED? As a young girl who begins to realize she is different, she may feel awkward. While her friends are all growing taller and physically developing, her self-esteem lowers as she sees that she doesn’t fit in. A female with Turner’s Syndrome is challenged socially because they have trouble learning social skills and controlling what they say. Her disruptive behavior may cause uncomfortable situations to arise. Parents may need to seek a support group for their daughter to feel accepted as well as provide her teachers with special instructions on teaching a child with learning disabilities.

WHAT ARE THE TREATMENTS? Growth hormone therapy is given to increase girls' heights. These are usually given as injections of somatropin several times a week. Girls also often undergo estrogen therapy in order to start puberty and reach adult sexual development. Estrogen therapy can also help with growth. Pregnancy and fertility treatments are also available as specially designed hormone therapy, though the failure of the ovaries are likely and possible pregnancies are high-risk. There is no known cure for the disease, however.

THE HISTORY BEHIND THE DISORDER? Dr. Henry Turner was an American endocrinologist who studied this condition and was one of the first researchers of the disease in the 1930‘s.  However, he was not the sole researcher. European doctors extensively researched the topic as well, and the disease is known as Ulrich-Turner or Bonnevie-Ulrich-Turner syndrome in Europe. The first diagnosis of Turner syndrome occurred on a fourteen year old in 1959 in Harwell, Oxfordshire (London) by Dr. Charles Ford.

WHO HAS TURNER SYNDROME? Linda Hunt – 4 ft. 9 in. tall actress rich voice films, documentaries, cartoons, and commercials Dr. Catherine Ward – 4 ft. 8 in. tall diagnosed at the age of 7 geneticist at the Akron’s Children Hospital president of the Turner Syndrome Society

SOURCES http://learn.genetics.utah.edu/content/disorders/whataregd/turner http://www.medicinenet.com/turner_syndrome/article.htm http://serendip.brynmawr.edu/exchange/node/1741 http://www.medscape.org/viewarticle/445555 http://www.scumdoctor.com/disease-prevention/genetic-disorders/turner-syndrome/Famous-Turner-Syndrome-Women.html http://www.genetic-diseases.net/turner-syndrome/