2024 POI Guidelines Flashcards

1
Q

What nucleotide repeats make up the mutation for Fragile X ?

A

CGG

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2
Q

What is the normal number of nucleotide repeats at the FMR1 gene locus

A

Less than 55

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3
Q

How many repeats are in the premutation for fragile X

A

Between 55 and 200

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4
Q

21-hydroxylase autoantibodies (21OH-Abs)
should be
performed in women with POI of unknown cause. Why is this

A

These antibodies are associated with auto immune Addisons disease which is where the immune system attacks the 21 hydroxylase enzyme, which ruins cortisol and aldosterone synthesis, but it I also associated with polyglandular autoimmune syndrome, which does what it says on the tin.

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5
Q

Assessment of thyroid function should be done with (1) and repeated every (2) years, or when symptoms arise.

A
  1. TSH
  2. 5
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6
Q

What is the average age of menopause in the UK

A

51

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7
Q
A
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