Endocrine Genetics Flashcards
name the 6 patterns of inheritance
autosomal dominant autosomal recessive x linked dominant x linked recessive y linked mitochondrial
what are the only patterns of inheritance in which you get carriers?
autosomal recessive
x linked
what are the main tumours of MEN1?
3 P’s:
pituitary adenoma
pancreatic endocrine
parathyroid
what are the main tumours of MEN2?
medullary thyroid
phaeochromocytoma
parathyroid
what is the pattern of inheritance of MEN1?
autosomal dominant
how many hits are needed to activate MEN1 and why?
2 because need 1 to stop tumour suppressor element of the gene and 1 to acitvate growth factors
what is the pattern of inheritance of MEN2?
autosomal dominant
how many hits are needed to activate MEN2?
1 as it is not a tumour suppressor gene
what happens when MEN1 is mutated?
loss/reduced protein function
what happens when MEN2 is mutated?
activation of receptor tyrosine kinase
what is the mortality rate of MEN1?
50%
investigation for suspected MEN1
pituitary tests
MRI pituitary
do you get marfanoid body habitus in MEN2A or MEN2B?
MEN 2B
treatment for medullary thyroid cancer?
prophylactic thyroidectomy
when are you at the highest risk of a RET mutation?
under 1yrs
why is RET important in MEN2?
it causes it
at what age range are you at high risk of phaeochromocytoma?
11-16
at what age range are you at high risk of parathyroid disease?
11-16
what effect does PPNAD have on the adrenal glands?
causes them to produce excess cortisol leading to cushings syndrome
what disease could cause you to get acromegaly and thyroid cancer?
carney complex
clinical features of mccune albright syndrome?
cafe au lait skin polyostotic fibrous dysplasia of bone precocious puberty thyroid nodules cushings syndrome
there is a mutation in what gene in von hippel lindau syndrome?
VHL
how von hippel lindau syndrome inherited?
autosomal dominant
what tumours are commonly found in von hippel lindau syndrome?
retinal haemangiomas
CNS haemangioblastomas
pancreatic and kidney cysts
clear cell renal cell carcinomas
von hippel lindau syndrome is strongly FH related: T or F?
T
what condition is caused by a mutation in the NF1 gene?
neurofibromatosis type 1
what types of succinate dehydrogenase genes are associated with phaeochromocytoma?
B C D
