A presentation about Klinefelter Syndrome

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A presentation about Klinefelter Syndrome

• By Auri Manstein
• 92B-10

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Klinefelter Syndrome

• The abbreviated name XXY, KS
• Named after Dr. Henry Klinefelter (in 1942)
• Only a male inherited disease

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Mode of Inheritance

• Klinefelter Syndrome is a chromosomal disorder,
  is caused by nondisjunction disorder
• Born with an extra chromosome, 47 XXY
• Klinefelters is a recessive disorder

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Punnett Square of Klinefelters

• Dad Aa (XAYa)
• Mom Aa (XAXa)

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Symptoms of Klinefelters

• Smaller genitalia
• Taller than average height (longer limbs)
• Poor upper body strength (clumsy)
• Breast growth
• 20-50 have mild intention tremors

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Testing

• Genetic testing
• Karyotype blood test
• Antenatal testing
• Amniocentesis
• Chorionic villus sampling (CVS)

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What to do if you have Klinefelters

• Parents should call a doctor if their son fails
  to develop secondary sexual characteristics at
  puberty.
• Many family members look to seek physiological
  help, because they are afraid of how
  Klinefelters will ruin their childs future, in
  relationships

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Prognosis

• People do not die from KS
• About 1 in every 500 to 800 males is born with
  this disorder. Approximately 3 of the male
  population have Klinefelter syndrome.
• Klinefelter syndrome is not inherited but occurs
  during fetal development, there is no way of
  preventing . One risk factor for this condition
  is the mother giving birth at an older age.

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Treatment

• There is no cure for KS.
• Children with Klinefelter syndrome may need
  special tutoring due to learning disabilities.
• Surgery - for enlarged breasts
• Testosterone injections are started around the
  time of puberty, which may help to produce more
  normal development of male hormones muscle mass,
  hair growth and increased sex drive.
• Testosterone injections do not increase genitalia
  size, but do decrease breast growth size

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Current Research

• Researchers are pursuing several approaches in
  an attempt to find one.
• Klinefelter syndrome research scientists are also
  looking at the Klinefelter syndrome risk factors
  for other medical conditions, including certain
  types of cancer.

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Genetic Counseling

• If a Genetic Counselor was talking to parents and
  telling them that they one is a carrier and the
  other does not have it, therefore there would be
  a 50 chance of a child with KS, they should
  probably have an abortion or have surgery at an
  early age

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Graphics to the Extreme!!!!
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Additional Interesting Facts

• Klinefelter syndrome is one of the most common
  genetic abnormalities. It affects between 1 in
  500 and 1 in 1,000 males.

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Bibliography

• http//www.merck.com/mmhe/sec23/ch266g.html
• http//www.nichd.nih.gov/health/topics/klinefelter
  _syndrome.cfm
• http//www.genetics.com.au/factsheet/30.htm
• http//www.klinefeltersyndrome.tripod.com/id3.html