Turner’s Syndrome

Maddie Wrenn

Common Names

• monosomy X • Ullrich-Turner syndrome 45• X Mosaic Turner syndrome• Gonadal dysgenesis

Type of Disorder

• Chromosomal condition• Turner’s syndrome is neither recessive or

dominant, it’s a condition that causes infertility and immature sexual development in women, it is due to the possession of only one X chromosome, instead of the two always present in normal women.

Symptoms• Swollen hands and feet • Wide and webbed neck • 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 (absent menstruation) • Short height • Vaginal dryness, can lead to painful intercourse

When and how to test for it• Turner syndrome can be diagnosed at any stage of life. It may be

diagnosed before birth if chromosome analysis is done during prenatal testing.

• The doctor will perform a physical exam and look for signs of underdevelopment.

• The following tests may also be performed:• Blood hormone levels • Echocardiogram • Karyotyping• MRI of the chest • Ultrasound of reproductive organs and kidneys • Pelvic exam • Turner syndrome may also alter various estrogen levels in the blood

and urine.

Deadly? Shorten life span?

• Turner’s syndrome is not deadly• It does have many health risks associated

with it, but most people live long lives with it.

Treatment• Since Turners syndrome is a condition there are no

cures, but there is a lot of treatments that can help correct some of the symptoms.

• Growth hormone may help a child with Turner syndrome grow taller. Estrogen replacement therapy is often started when the girl is 12 or 13 years old. This helps trigger the growth of breasts, pubic hair, and other sexual characteristics.

• Women with Turner syndrome who wish to become pregnant may consider using a donor egg.

• Current treatment includes Estrogen therapy

People most likely to get Turner’s syndrome

• Females• It doesn’t affect any certain ethnic or race

group

How common is Turner’s syndrome

• Turner’s syndrome occurs in about 1 in 2,500 live births

• 10% of spontaneously aborted fetuses have this disorder

Support Groups

• There is a support group called “Short Happens!”

• There are also many support groups online for younger girls to talk about living with Turner’s Syndrome.

Interesting Facts

• Most girls that go untreated only grow to 4 feet 8 inches

• Discovered in 1938 by Dr. Henry Turner• 800 new cases of Turner's syndrome are

reported yearly in the United States

Sources• http://ghr.nlm.nih.gov/condition/turner-syndrome • http://rarediseases.about.com/cs/turnersyndrome/a/020803.htm • http://wiki.answers.com/Q/How_common_is_turner_syndrome • http://www.themedicalquestions.com/disease/is-turner-syndrome-

deadly.html • http://serendip.brynmawr.edu/exchange/node/1741• http://www.articlesbase.com/diseases-and-conditions-articles/how-

turners-syndrome-is-tested-for-3331974.html • http://health.nytimes.com/health/guides/disease/turner-syndrome/

overview.html • http://www.turnersyndrome.org/ • http://www.disabled-world.com/disability/types/turner-syndrome.php