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Klinefelter Syndrome

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Klinefelter Syndrome Notes

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Klinefelter Syndrome

  1. 1. Presented By R.KrishnaMoorthy
  2. 2. Klinefelter Syndrome is a genetic disorder that affects males. Its occurs when a boy is born with one or more extra X-Chromosomes.
  3. 3. So Klinefelter Syndrome is a trisomic disorder. It occurs in about 1 out of 1000 males. This condition is not typically inherited from one parents.
  4. 4.  In 1942,Dr.Harry Klinefelter, and his coworkers found nine men with small testes, aspermia, elevated urinary gonadotrophins and gynecomastics. These persons were later designated as Klinefelter’s syndromic. Dr.Harry Klinefelter
  5. 5.  Bradbury(1956) found that such person is chromatin positive having 2X chromosomes in its Karyotype.  Jacob and Strong (1956) described the presence of 2X chromosomes in addition to a Y chromosome in its Karyotype.  Court Brown (1964) described that, in more than ¾ th cases, Karyotype is 47/XXY.
  6. 6. Cause of Klinefelter Syndrome
  7. 7. Anxiety and depression Infertility Weak bones (osteoporosis) Heart and blood vessel disease Breast cancer Lung disease Diabetes and hypothyroidism Lupus and rheumatoid arthritis Tooth problems
  8. 8. At Birth and Childhood  Undescended testicles  Weak muscles  Slow motor development  Delay in speaking  Taller than average height  Longer legs and broader hips
  9. 9. At Puberty  Small testicles (hypogonadism)  Breast tissue development (gynaecomastia)  Low sperm count or no sperm  Low sex drive  Taller than average height  Weak bones  Decreased facial and body hair  Less muscular than normal  Increased belly fat  Small penis
  10. 10. Hormone Testing Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome.
  11. 11. Chromosome Analysis  Also called karyotype analysis.  This test is used to confirm a diagnosis of Klinefelter syndrome.  A blood sample is sent to the lab to check the shape and number of chromosome.
  12. 12.  Testosterone Replacement Therapy  It helps to stimulate changes in the time of puberty.  Changes such as developing a deeper voice, growing facial and body hair, and increasing muscle mass and penis size.  It will not result in testicle enlargement or improve infertility.
  13. 13.  Breast Tissue Removal In males who develop enlarged breasts, excess breast tissue can be removed by a plastic surgeon, leaving a more normal- looking chest.  Speech and Physical Therapy These treatments can help boys with Klinefelter syndrome overcome problems with speech, language and muscle weakness.
  14. 14.  Fertility Treatment Intracytoplasmic sperm injection (ICSI)-minimal sperm production patient. During ICSI, sperm is removed from the testicle with a biopsy needle and injected directly into the egg.
  15. 15.  Psychological counseling A family therapist, counselor or psychologist can help work through the emotional issues

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