Transcript Turner Syndrome

Turner Syndrome
By: Olivia Hoefling
What is Turner Syndrome?
• Turner Syndrome is a
genetic syndrome that
effects every 1 in 2,500
females.
• Most females are born
with 2 x chromosomes,
but females with
Turner’s Syndrome are
only born with one x
chromosome (or part of
one).
What are the physical
symptoms?
• A “webbed” neck (extra folds
of skin)
• A low hair line at the back of
the neck
• Drooping at the eyelids
• Lower set ears
• Abnormal bone development
• Extra fluids in hands in feet
• Short stature
• Lack of sexual development
How do you inherit Turner’s?
• Turner’s Syndrome is neither dominant or recessive.
• It is caused by “nondisjunction”:
When a pair of sex chromosomes fails to separate during the
formation of an egg (or sperm)
…
Inheritance of Turner’s
continued…
• As the embryo grows and the cells
divide, every cell of the baby's body will
be missing one of the X chromosomes.
• Turner’s is not inherited from a parent
because women with Turner syndrome
are usually sterile and cannot have
children.
How is Tuner’s diagnosed?
• A doctor can easily suspect
Turner’s by physical
abnormalities, and blood tests
can confirm this.
• The point when Tuner’s can be
diagnosed depends on the
severity of the condition and
how quickly it develops.
What is the life expectancy of
someone with Tuner’s?
• Turner’s does not affect a person’s life
span.
• However, Women with Tuner Syndrome
are faced with health risks such as heart
disease, diabetes, kidney problems, etc.
How can Tuner Syndrome be
treated?
• Growth hormones: Can increase height.
Ex. Androgen
• Estrogen Replacement Therapy: Can
promote development of secondary sexual
characteristics as well as help maintain good
bones and healthy tissue.
Are there any new treatments
or research for Tuner’s?
• Women with Turner Syndrome are
infertile.
• However, with the use of reproductive
technologies have been used to help
woman with Turner’s become pregnant.
Ex. A donor egg can be used to create
an embryo, which is carried by the
Turner syndrome woman.
Statistics
• 1 in every 2,500 live female births are
affected by Turner Syndrome:
0.04% of U.S. population is affected.
108,800 people in the U.S. are affected.
What is everyday life like for
someone with Turner Syndrome?
• Depending on the
severity of the
condition, a woman with
TS generally lives a
normal life.
• However, TS does
involve more health
risks (heart, kidney) so
someone with TS has to
have regular check ups
and doctors
appointments.
Cont…
Everyday Life Continued…
• Though women with TS are just as
intelligent as anyone else, some may
experience learning difficulties.
• Learning difficulties may include trouble
in mathematics, spacial skills, and
hearing problems
Continued…
Everyday Life Continued…
• Women with TS have physical
abnormalities, so this is something that
they have to deal with in social
situations every day.
• This can greatly affect these girl’s self
esteem and confidence so some sort of
therapy is recommended.
Bibliography
• http://en.wikipedia.org/wiki/Turner_syndrome
• http://kidshealth.org/teen/diseases_conditions/genetic
/turner.html
• http://www.medicinenet.com/turner_syndrome/article.
htm
• http://learn.genetics.utah.edu/content/disorders/what
aregd/turner/
• http://genetics.emedtv.com/turnersyndrome/diagnosis-of-turner-syndrome.html
• http://serendip.brynmawr.edu/exchange/node/1741