Turner’s Syndrome

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Transcript Turner’s Syndrome

Turner’s Syndrome
Maddie Wrenn
Common Names
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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
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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-syndromedeadly.html
http://serendip.brynmawr.edu/exchange/node/1741
http://www.articlesbase.com/diseases-and-conditions-articles/howturners-syndrome-is-tested-for-3331974.html
http://health.nytimes.com/health/guides/disease/turnersyndrome/overview.html
http://www.turnersyndrome.org/
http://www.disabled-world.com/disability/types/turner-syndrome.php