Turner Syndrome
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Wide spectrum of features from minor to major
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Affects 1 in 2500 female live births
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Almost all females with Turner syndrome have short stature and loss of ovarian function
FEATURES
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Short webbed neck
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Low posterior hairline
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Low set ears
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Hands and feet may be swollen at birth
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Short Stature (final adult height may be increased with the use of growth hormone)
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Usually ovarian function lost in early childhood therefore do not enter puberty
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Older girls and women should be maintained on oestrogen-progesterone treatment to maintain secondary sexual development
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Hypothyroidism (30%)
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Type II Diabetes (twice community risk)
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At risk for osteoporosis
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In general IQ normal, however may have difficulty with math and geometry
CARDIOVASCULAR FEATURES
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Coarctation of the aorta (10-15%)
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Bicuspid aortic valves
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Hypetension (may be renal in origin)
RENAL FEATURES
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Horseshoe kidney
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Abnormal collecting system
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Abnormal arterial supply