Endocrine Genetics

Question 1

name the 6 patterns of inheritance

Answer 1

autosomal dominant
autosomal recessive
x linked dominant 
x linked recessive
y linked
mitochondrial

Question 2

what are the only patterns of inheritance in which you get carriers?

Answer 2

autosomal recessive

x linked

Question 3

what are the main tumours of MEN1?

Answer 3

3 P’s:
pituitary adenoma
pancreatic endocrine
parathyroid

Question 4

what are the main tumours of MEN2?

Answer 4

medullary thyroid
phaeochromocytoma
parathyroid

Question 5

what is the pattern of inheritance of MEN1?

Answer 5

autosomal dominant

Question 6

how many hits are needed to activate MEN1 and why?

Answer 6

2 because need 1 to stop tumour suppressor element of the gene and 1 to acitvate growth factors

Question 7

what is the pattern of inheritance of MEN2?

Answer 7

autosomal dominant

Question 8

how many hits are needed to activate MEN2?

Answer 8

1 as it is not a tumour suppressor gene

Question 9

what happens when MEN1 is mutated?

Answer 9

loss/reduced protein function

Question 10

what happens when MEN2 is mutated?

Answer 10

activation of receptor tyrosine kinase

Question 11

what is the mortality rate of MEN1?

Answer 11

50%

Question 12

investigation for suspected MEN1

Answer 12

pituitary tests

MRI pituitary

Question 13

do you get marfanoid body habitus in MEN2A or MEN2B?

Answer 13

MEN 2B

Question 14

treatment for medullary thyroid cancer?

Answer 14

prophylactic thyroidectomy

Question 15

when are you at the highest risk of a RET mutation?

Answer 15

under 1yrs

Question 16

why is RET important in MEN2?

Answer 16

it causes it

Question 17

at what age range are you at high risk of phaeochromocytoma?

Answer 17

11-16

Question 18

at what age range are you at high risk of parathyroid disease?

Answer 18

11-16

Question 19

what effect does PPNAD have on the adrenal glands?

Answer 19

causes them to produce excess cortisol leading to cushings syndrome

Question 20

what disease could cause you to get acromegaly and thyroid cancer?

Answer 20

carney complex

Question 21

clinical features of mccune albright syndrome?

Answer 21

cafe au lait skin
polyostotic fibrous dysplasia of bone
precocious puberty
thyroid nodules
cushings syndrome

Question 22

there is a mutation in what gene in von hippel lindau syndrome?

Answer 22

VHL

Question 23

how von hippel lindau syndrome inherited?

Answer 23

autosomal dominant

Question 24

what tumours are commonly found in von hippel lindau syndrome?

Answer 24

retinal haemangiomas
CNS haemangioblastomas
pancreatic and kidney cysts
clear cell renal cell carcinomas

Question 25

von hippel lindau syndrome is strongly FH related: T or F?

Answer 25

T

Question 26

what condition is caused by a mutation in the NF1 gene?

Answer 26

neurofibromatosis type 1

Question 27

what types of succinate dehydrogenase genes are associated with phaeochromocytoma?

Answer 27

B C D