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Klinefelter's Syndrome
by Jun Kyoung

Bio 106
Amy Foote

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  1. 1. Klinefelter’s Syndrome Jun Kyoung Bio. 106
  2. 2. What is Klinefelter syndrome? <ul><li>The Klinefelter syndrome occurs in 1 in every 500-1000 males. </li></ul><ul><li>A disease that only affects males. </li></ul><ul><li>Males have an extra X chromosome (XXY). </li></ul><ul><ul><li>Therefore, a total of 47 chromosomes. </li></ul></ul><ul><ul><li>The extra X chromosome affects the testes. </li></ul></ul><ul><li>Men with this disease are often tall and do not develop secondary characteristics such as facial hair or underarm and pubic hair. </li></ul>
  3. 3. How do people get Klinefelter syndrome? <ul><li>Those with the Klinefelter syndrome inherit one extra X-chromosome from their mothers. </li></ul><ul><li>The extra X-chromosome is then copied in every cell in the baby’s body. </li></ul>
  4. 4. What are the symptoms of the XXY syndrome? <ul><li>Symptoms are different among males. </li></ul><ul><li>The XXY condition affects three main areas of development: 1) physical, 2) language, and 3) social. </li></ul><ul><li>Symptoms are dependent on how many XXY cells are present, how much testosterone is present, and the age he is diagnosed. </li></ul><ul><li>Basic characteristics: </li></ul><ul><ul><li>Small and firm testicles </li></ul></ul><ul><ul><li>Low testosterone </li></ul></ul><ul><ul><ul><li>Infertility </li></ul></ul></ul><ul><ul><ul><li>Incomplete masculinization </li></ul></ul></ul><ul><ul><ul><li>Female body hair distribution (sparse facial, armpit, and pubic hair) </li></ul></ul></ul><ul><ul><ul><li>Decreased libido </li></ul></ul></ul>
  5. 5. Physical Development <ul><li>As infants, many XXY males have weak muscles and reduced strength. They develop habits of sitting up, crawling, and walking later than other males. </li></ul><ul><li>Less testosterone is formed. </li></ul><ul><ul><li>The result is a taller, less muscular body, less facial and body hair, and broader hips than other boys. </li></ul></ul><ul><ul><li>As teens, XXY males may develop larger breasts, weaker bones, and less energy than those of other boys. </li></ul></ul><ul><li>Body shape patterns: </li></ul><ul><ul><li>Pear-shaped </li></ul></ul><ul><ul><li>Tall </li></ul></ul><ul><ul><li>Abnormal proportions (short trunk, long legs, long arms, lower body larger than upper) </li></ul></ul><ul><ul><li>Teeth abnormality </li></ul></ul><ul><ul><ul><li>Taurodontism: enlarged pulp and thin tooth surface </li></ul></ul></ul>
  6. 6. Language Development <ul><li>Between 25-85% of XXY males have a language problem. </li></ul><ul><ul><li>Learning to talk may occur late. </li></ul></ul><ul><ul><li>XXY males may have trouble using language to express thoughts and needs. </li></ul></ul><ul><ul><li>They may have a problem reading. </li></ul></ul><ul><ul><li>XXY males may have a hard time processing what they hear. </li></ul></ul><ul><li>At adulthood, XXY males may have trouble doing work that involves reading and writing; nonetheless, most hold jobs and have successful careers. </li></ul>
  7. 7. Social Development <ul><li>As babies, XXY males tend to be quiet and undemanding. As they grow older, they get quieter, less self-confident, less active, and more hopeful and obedient than other boys. </li></ul><ul><li>As teens, XXY males tend to be quiet and shy. They may struggle in school and sports, meaning they may have more trouble “fitting in” with other kids. </li></ul><ul><li>As adults, XXY males lives are similar to those of other men without the condition; affected males have friends, families, and normal social relationships. </li></ul>
  8. 8. What are the treatments of the XXY condition? <ul><li>Hormone therapy is usually the best way to treat the disorder. Teenagers are given testosterone injections to replace the hormone that would normally be produced by testes. Synthetic testosterone works like natural testosterone – it builds muscles and increases hair growth. </li></ul><ul><li>The XXY chromosome pattern can not be reversed. However, there is a variety of ways to treat the symptoms: </li></ul><ul><ul><li>Educational treatments: As children, many XXY males qualify for special services to help them in school. Teachers can also help by using certain methods in the classroom, such as breaking bigger tasks into smaller steps. </li></ul></ul><ul><ul><li>Therapeutic options: A variety of therapists, such as physical, speech, occupational, behavioral, mental health, and family therapists, can often help reduce or eliminate some of the symptoms of the XXY condition, such as poor muscle tone, speech or language problems, or low self-confidence. </li></ul></ul><ul><ul><li>Medical treatments: Testosterone replacement therapy (TRT) can greatly help XXY males get their testosterone levels into normal range. Having a more normal testosterone level can develop bigger muscles, deepen the voice, and grow facial and body hair. TRT often starts when a boy reaches puberty. Some XXY males can also benefit from fertility treatment to help them father children. </li></ul></ul><ul><li>One of the most important factors for all types of treatment is starting it early in life as possible. </li></ul>
  9. 9. Sources <ul><li>http://www.medicinenet.com/klinefelter_syndrome/article.htm </li></ul><ul><li>http://learn.genetics.utah.edu/content/disorders/whataregd/klinefelter/ </li></ul><ul><li>http://www.plasticsurgery4u.com/klinefelters_xxy/index.html </li></ul>