Familial Endo AB Flashcards
1
Q
A SDHD mutation puts you at risk of…
A
Paraganglioma
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
3
Q
MEN2 - what is the gene?
A
RET oncocgene
4
Q
MEN 2a - what are the clinical features?
A
“2 Ps”
Parathyroid
Phaeochromocytoma
+ Medullary thyroid cancer
5
Q
MEN 2b - what are the clinical features?
A
“1 P”
Phaeochromocytoma
Marfanoid body habitus
Neuromas