Klinefelter Syndrome

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