Genetics

Question 1

is MEN autosomal recessive or dominant?

Answer 1

dominant

Question 2

what are the 3 main things associated with MEN1?

Answer 2

parathyroid adenoma and pituitary adenoma and other associated tumours

Question 3

is there a phenotype/genotype correlation observed in MEN1?

Answer 3

no

Question 4

is there a phenotype/genotype correlation observed in MEN2?

Answer 4

yes

Question 5

what are the 3 main things associated with MEN2?

Answer 5

medullary thyroid cancer
pheochromocytoma
parathyroid disease

Question 6

name the 3 main clinical features of carney complex

Answer 6

PPNAD - primary pigmented nodular adrenocortical disease

acromegaly

thyroid carcinoma

Question 7

what does PPNAD cause the adrenal gland to produce an excess of? what does this lead to?

Answer 7

cortisol leading to cushings

Question 8

name the 3 main clinical features of von hippel-lindau (VHL)

Answer 8

retinal haemangioomas
CNS haemangioblastomas
renal cell carcinoma

Question 9

name the 3 main clinical features of neurofibromatosis type 1

Answer 9

axillary freckling
cafe-au-lait patches
neurofibromas

Question 10

name the 3 main clinical features of McCune-Albright Syndrome

Answer 10

cafe-au-lait skin pigmentation

precocious puberty in females

thyroid nodules