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Klinefelter’s Syndrome

Klinefelter’s Syndrome. History of Klinefelter’s Syndrome. Description. Klinefelter’s Syndrome also known as: 47, XXY XXY Syndrome XXY Trisomy. Description & Biochemical Features. Common phenotype: XXY Symptoms Gynecomastia Reduced facial and body hair Infertility Risks

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Klinefelter’s Syndrome

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  1. Klinefelter’s Syndrome

  2. History of Klinefelter’s Syndrome

  3. Description • Klinefelter’s Syndrome also known as: • 47, XXY • XXY Syndrome • XXY Trisomy

  4. Description & Biochemical Features • Common phenotype: XXY • Symptoms • Gynecomastia • Reduced facial and body hair • Infertility • Risks • Physcological effects

  5. Biochemical Features

  6. Biochemical Features • The leydig cells produce testosterone. • The leydig cells in someone with Klinefelter's do not produce as much testosterone as a male with only on X chromosome.

  7. Molecular Genetics & Mapping • Inherited? • When does it happen? • Variations?

  8. Diagnosis • How do I know if I have Klinefelter’s? • Karyotype • Can I tell if my baby has it? • CVS • Is there another way to know?

  9. Is there treatment?

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