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my Endocrinology > Endocrine genetics > Flashcards

Endocrine genetics Flashcards

1
Q

What is MEN?

A

Multiple endocrine neoplasia

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2
Q

What is the pattern of inheritance of MEN? What gene is mutated in MEN1?

A

Autosomal dominant

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3
Q

What gene is mutated in MEN1?

A

MEN1 gene - 11q (tumour suppressor)

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4
Q

What is the mutation in MEN2?

A

RET gene -10q (proto-oncogene)

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5
Q

What is the treatment for patients with MEN2?

A
  1. Medullar Thyroid Cancer - prophylactic thyroidectomy
  2. Screen for Pheochromocytoma
  3. Screen for Parathyroid disease
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6
Q

Axillary freckling, cafe-au-lait patches and scoliosis are characteristic of…

A

Neurofibromatosis type 1

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my Endocrinology (23 decks)

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