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Klinefelters Syndrome

Klinefelters Syndrome. Amy Batley Feb 2012. Dr Harry Klinefelter Jnr. 1942 Massachusetts Described men TALL HYPOGONADISM NO SPERM SPARSE HAIR GYNAECOMASTIA. Epidemiology. Most common sex chromosome disorder Approx 1.7/1000 male births All ethnicity. Genetics.

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Klinefelters Syndrome

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  1. Klinefelters Syndrome Amy Batley Feb 2012

  2. Dr Harry Klinefelter Jnr • 1942 • Massachusetts • Described men • TALL • HYPOGONADISM • NO SPERM • SPARSE HAIR • GYNAECOMASTIA

  3. Epidemiology • Most common sex chromosome disorder • Approx 1.7/1000 male births • All ethnicity

  4. Genetics • Normally 46 XY (Man) • In Klinefelters mainly an xtra X (47XXY) • But variations occur • 48 XXYY, mosaic- 47XXY/46XY

  5. Presentation

  6. Features

  7. Features

  8. features • Loss of libido, • Reduced power and muscle strength • Tiredness • Osteoporosis • Depression • At risk heart disease

  9. Investigations • Serum testosterone is low /low normal • Fsh and lh are raised • Chromosomal analysis to confirm

  10. Associations

  11. Management • Endocrine/genetics/psychologist/ Speech therapist • Testosterone replacement (just prior to puberty) • Breast education • Fertility treatment ICSI AID • Plastic - gynaecomastia

  12. Prognosis • Lifespan is normal

  13. Kallmann syndrome • Kallmann Syndrome: A rare inherited condition • hypogonadism, eunuchoidism • impaired or absent sense of smell. • failure of a part of the hypothalamus which results in hormonal imbalance.

  14. Marfans • connective tissue disorder • tall stature, elongated extremities, subluxation of the lens, • dilatation of the ascending aorta • "pigeon breast." • autosomal dominant

  15. Hypopituitary • reduced pituitary hormone levels. • growth hormones • prolactin • TSH • ADH

  16. Questions

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