Turner Syndrome

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  • Wide spectrum of features from minor to major

  • Affects 1 in 2500 female live births

  • Almost all females with Turner syndrome have short stature and loss of ovarian function

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FEATURES

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  • Short webbed neck

  • Low posterior hairline

  • Low set ears

  • Hands and feet may be swollen at birth

  • Short Stature (final adult height may be increased with the use of growth hormone)

  • Usually ovarian function lost in early childhood therefore do not enter puberty

  • Older girls and women should be maintained on oestrogen-progesterone treatment to maintain secondary sexual development

  • Hypothyroidism (30%)

  • Type II Diabetes (twice community risk)

  • At risk for osteoporosis

  • In general IQ normal, however may have difficulty with math and geometry

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CARDIOVASCULAR FEATURES

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  • Coarctation of the aorta (10-15%)

  • Bicuspid aortic valves

  • Hypetension (may be renal in origin)

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RENAL FEATURES

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  • Horseshoe kidney

  • Abnormal collecting system

  • Abnormal arterial supply