Familial Endo AB Flashcards

1
Q

A SDHD mutation puts you at risk of…

A

Paraganglioma

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2
Q

MEN1 - what are the features?

A

“3 Ps”

Usually presents with hypercalcaemia (hyperparathyroidism)
Pituitary
Pancreas (e.g. insulinoma, gastrinoma)

Also: adrenal and thyroid

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3
Q

MEN2 - what is the gene?

A

RET oncocgene

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4
Q

MEN 2a - what are the clinical features?

A

“2 Ps”

Parathyroid
Phaeochromocytoma

+ Medullary thyroid cancer

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5
Q

MEN 2b - what are the clinical features?

A

“1 P”

Phaeochromocytoma

Marfanoid body habitus
Neuromas

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