Turner's syndrome Flashcards

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1
Q

occurs when

A

a female has a singel X chromosome

making them 45X0

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2
Q

features

A
short stature
webbed neck 
high arched palate
downward sloping eyes w pstosis
widely spaced nipples
cubitus valgus 
underdeveloped ovaries with reduced function 
late/incomplete puberty 
most infertile
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3
Q

cubitus valgus

A

when arm extended down and palms facing forward the angle of forearm at elbow is exaggerated away from body

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4
Q

typical exam presentation

A

short stature
webbed neck
widely spaced nipples

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5
Q

assoc conditions

A

recur. otitis media
recur. UTI
coarctation of aorta
hypothyroidism
HTN
obesity
diabetes
osteoporosis
LD

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6
Q

assoc cardiac abnormalities - and which is most common.?

A

bicuspid aortic valve (ejection systolic murmur)
coarctation of aorta (late systolic murmur)

bicuspid aortic valve more common

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7
Q

Mx

A

growth hormone therapy
oestrogen and progeserone
fertilty treatment

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8
Q

Mx - oestrogen and progerterone

A

establish 2ry sex characteristics
regulate menstrual cycle
prevent osteoporosis

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