Multiple Polyendocrine Syndromes - 2/10 Lopez Flashcards
MEN 1 has what tumor almost always associated with it?
Parathyroid adenomas
MEN 2A has what tumor always associated with it?
Medullary thyroid carcinoma
MEN 2B has what tumor always associated with it?
Medullary carcinoma of the thyroid and and neuromas
What else is MEN type 1 called?
Caused by what mutation (gene and protein)?
How does it act?
Wermer syndrome
MEN1 gene, men in
Tumor suppressor
What are the 3 tumors for Wermer syndrome?
3 P’s: Parathyroid, Pancreas, Pituitary
What is the most frequent manifestation of MEN 1 pancreatic involvement?
2nd most?
Gastrinoma
Insulinoma
What is the 3rd most manifestation of MEN1 ?
What is secreted?
What else may develop?
Pituitary tumor
Prolactin -> hyperprolactinemia
Cushing’s syndrome or acromegaly
What are the Sx of hyperprolactinemia in women and men?
W: amenorrhea
M: impotence
What drug is used to treat prolactinomas?
For acromegaly?
Bromocriptine
(Peanut Butter)
Octreotide
OA
What gene is mutated in MEN type 2?
What kind of gene is it?
Codes for what?
RET
Proto-oncogene
RTK
Is 2A or 2B more severe?
When do 2A people die?
2B?
2B
60
30
What else is MEN type 2A called?
The MTC expressed what peptides/hormones that are not normally expressed by C cells?
What do pheochromocytomas in 2A do?
Sipple
Somatostatin, TRH, VIP, POMC, carcinoembryonic antigen, neurotensin
More Epi than sporadic
What itchy skin condition may be present in Sipple syndrome?
Cutaneous lichen amyloidosis
What are the Sx of Pheochromocytomas?
Sympathetic nervous system hyperactivity: elevated HR, BP, palpitations, headaches, sweating, nausea, pallor
Defect in 21B-hydroxylase leads to what syndrome?
Production of what?
Sx?
CAH
Androgens
Hypotension, ambiguous genitalia
