Transcript Klinefelter Syndrome - Boulder Valley School District

Klinefelter Syndrome
By: Ryan Wilding and Lukas Johnson
What is Klinefelter Syndrome
• Klinefelter syndrome is a condition in which
human males have an extra X chromosome.
It is the most common sex chromosome
disorder in males.
• Where females have an XX chromosome
makeup and males have an XY chromosome
makeup the individual will have at least two
XX chromosomes and at least one Y
chromosome.
Medical
• How does a person inherit it? Is it dominant
or recessive?
• -When the egg or sperm is formed
nondisjunction occurs (pair of sex
chromosomes fail to separate). When the
egg/sperm unites with its partner the embryo
created ends up with three copies of the sex
chromosome (XXY). It is neither a dominant
or recessive inheritance.
Gene Abnormality
• On the sex chromosome the male, instead of
having one X and one Y, it has XX and a Y
chromosome. This makes 47 chromosomes
rather than 46. (47, XXY)
How Prevalent?
• Klinefelter syndrome affects 1 in 500 to
1,000 males.
• Women who are over the age of 35 are more
likely to have nondisjunction occur causing a
higher percentage chance of klinefelter’s in
their offspring.
Disease to Diseased
• If a person has klinefelter syndrome they
have the same chances of passing on the
syndrome as any normal person.
• However the majority of klinefelter patients
are infertile so they can’t pass on the disease.
Diagnosis
• A karyotype or other blood tests are used to
examine the person’s chromosomal makeup
• Fetal tissue can also be examined
Physical Symptoms
• Abnormal body proportions (long legs,
short trunk, shoulder equal to hip size)
• Abnormally large breasts
• Infertility
• Sexual problems
• Less than normal amount of hair
• Tall height
• Small but firm testicles
Other symptoms and conditions
• They have in increased risk for certain
medical problems (intellectual disability,
distinctive facial features, skeletal
abnormalities, poor coordination, and severe
problems with speech).
Life Expectancy
• People with Klinefelter syndrome have a
normal life expectancy.
Treatment
• Testosterone therapy may be prescribed because
this can help with natural male characteristics.
Their shortage of testosterone causes the
physical symptoms which can be reversed by
various male hormone treatments.
• Further advancements in treating Klinefelter
syndrome include regular checkups,
medications, psychological counseling, and
sometimes surgery.
Personal
• What is everyday life like?
• -Patients who need help coping with the social
anxieties of the syndrome can seek mental help
groups and counseling. People affected with
Klinefelter Syndrome can become depressed and
feel different and somewhat as an outcast. They
are “less masculine” than average males, and can
be mocked for their appearance. They can feel
these pressures in school, work, and
relationships.
Limitations
• What limitations does the person have?
• People have less testosterone than average
males. They have difficulties making
offspring, and have less athletic ability. Also
they can have speech problems as a youth.
They have less stamina in a daily life.
Organizations
• What are some organizations that can help?
• Klinefelter Syndrome & Associates, Inc.
– http://www.kumc.edu/gec/support/klinefel.html
• KLINEFELTER SYNDROME ORGANIZATIONS
– http://klinefeltersyndrome.org/Klinefelter_Associations_and_Organiza
tions.html
• American Association for Klinefelter Syndrome Information
and Support (AAKSIS)
– www.aaksis.org
Cure?
• How possible is it that a cure will be found?
• There will never be a cure for Klinefelter
Syndrome. The genetic variation is incurable.
Once a person has an extra chromosome,
they are stuck with that extra chromosome.
The only way for it not to happen is for non
disjunction to not occur.
Bibliography
• Google images (google.images.com)
• http://en.wikipedia.org/wiki/Klinefelter's_syn
drome
• http://www.ncbi.nlm.nih.gov/pubmedhealth/
PMH0001420
• http://www.nlm.nih.gov/medlineplus/klinefelt
erssyndrome.html
• http://www.medicinenet.com/klinefelter_syn
drome/article.htm