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Endocrine > Endocrine Genetics > Flashcards

Endocrine Genetics Flashcards

1
Q

what are monogenic disorders and how can they be inherited?

A 
single gene aetiology
6 patters
- AD
- AR
- XLD
- XLR
- Y linked
- mitochondrial
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2
Q

what are polygenic disorders and what can cause them?

A

multiple genes

often involved environmental influences

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3
Q

X linked dominant inheritance?

A

male can only give to females
females can pass to males and females
always causes disease

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4
Q

X linked recessive?

A

only females can have the disorder (need 2 genes)
females can pass gene to males and make them carriers
females can be carriers if only 1 parent affected

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5
Q

2 characteristics of mandelian disease?

A

very rare

high penetrance

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6
Q

what factors indicate a possible genetic disease?

A

childhood/early onset
familial history
presence of features consistent with genetic syndrome
disease specific indications

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7
Q

what can affect the value of genetic testing?

A

disease severity and typical penetrance of disorder
potential utility of disorder
- intervention /screening based on result
- value of test results to first degree relatives
- prenatal diagnosis/genetic counselling

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8
Q

when might genetic testing be worth while?

A

if high penetrance and high disease severity

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9
Q

endocrine and non endocrine features of MEN1?

A 
endocrine
- pancreatic, parathyroid, pituitary tumours
- adrenocortical tumours
non endocrine
- lipomas
- collagenomas
- angiofibromas
- meningiomas
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10
Q

endocrine and non endocrine features of MEN2?

A 
endocrine:
- medullary thyroid cancer
- phaeochromocytoma
- parathyroid tumours
non endocrine
- lichen amyloidosis
- hirsprung disease
- mucosal neuromas
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11
Q

von hippel Lindau

A 
endocrine
- phaeochromocytoma
- pancreatic NET
non endocrine
- renal cell carcinoma
- renal cysts
- haemangioblastoma
- pancreatic cysts
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12
Q

MEN1 features?

A

pituitary
parathyroid
pancreatic
(3 Ps)

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13
Q

what is MEN1?

A

autosomal dominant inheritance of MEN1 gene (11q) mutation (tumour suppressor gene)
Bi-allelic inactivation and LOH

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14
Q

what is MEN2?

A

autosomal dominant inheritance of RET gene (10q) mutation (classic proto-oncogene)

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15
Q

what are the features of MEN2?

A

medullary thyroid cancer
phaeochromocytoma
parathyroid tumours in type A

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16
Q

describe the genotype/phenotype correlation in MEN1

A

no correlation

MEN1 mutations scattered evenly throughout the coding region of DNA

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17
Q

describe genotype/phenotype correlation in MEN2?

A

clear correlation

RET mutations affect specific cysteine residues

18
Q

what do MEN1 and RET mutations cause?

A 
MEN1 = loss/reduced protein function
RET = activation of receptor tyrosine kinase
19
Q

describe mortality in MEN1

A

50% will die as a direct result of disease
high premature mortality
leading causes of death
- malignant pancreatic neuroendocrine tumour
- thymic carcinoids

20
Q

what happens in MEN1?

A

bi-allelic inactivation of the MEN1 gene

21
Q

indications for MEN1 testing?

A

if meeting clinical criteria for MEN1
if first degree relative affected
MEN1 features present

22
Q

what 3 glands are affected in MEN1?

A

pituitary adenoma
parathyroid hyperplasia
pancreatic tumours

23
Q

what glands are affected in MEN2A?

A

parathyroid hyperplasia
medullary thyroid carcinoma
Pheochromocytoma

24
Q

what glands are affected in MEN2B?

A

mucosal neuromas
marfanoid body habitus
medullary thyroid carcinoma
pheochromocytoma

25
Q

how is medullary thyroid cancer from MEN2 managed?

A 
prophylactic thyroidectomy
risk depends on age
- highest = <1
- high = <5
- moderate = >5
26
Q

when is risk highest for pheochromocytoma?

A

from 11 years old

moderate = from 16 yrs

27
Q

when is risk highest for parathyroid disease?

A

from 1 years

moderate risk = from 16 years

28
Q

what causes carney complex?

A

defect in protein kinase A regulatory subunit due to mutation in PRKAR1A

29
Q

what happens in carney complex?

A

aberrant PKA signalling from GPCR resulting in uncontrolled proliferation

  • skin pigmentation
  • tumours
  • acromegaly
  • etc
30
Q

what is McCune-Albright Syndrome?

A 
café-au-lait skin pigmentation
polyostotic fibrous dysplasia (bones)
precocious puberty
thyroid nodules
pituitary - GH excess
cushings syndrome (adrenal)
31
Q

what causes McCune Albright Syndrome?

A

post zygotic GNAS mutation (not germline)

constitutive cAMP signalling

32
Q

what are the features of von hippel-lindau?

A

retinal haemangiomas
CNA haemangioblastomas
pancreas - cysts
kidneys - cysts, clear cell renal cell carcinomas
epididymal (male) or broad ligament papillary cystadenomas

33
Q

what causes von hippel-lindau syndrome?

A

mutation in VHL gene
autosomal dominant inheritance
mutation leads to accumulation of HIF proteins and stimulation of cellular proliferation
results in vascular tumours

34
Q

is family screening needed in VHL?

A

yes

35
Q

what causes neurofibromatosis type 1 and what are the features?

A 
NF1 gene mutation
axillary freckling
café-au-lait patches
neurofibromas
optic gliomas
scoliosis
some have learning difficulties
rarely phaeochromocytomas
36
Q

are phaeochromocytomas inherited?

A

10% are familial

37
Q

6 features of McCune Albright Syndrome?

A 
café au lait ("coast of maine" appearance)
polyostotic fibrous dysplasia (bones)
precocious puberty (mainly females)
thyroid nodules
pituitary- GH excess
cushings syndrome (adrenal)
38
Q

what causes McCune Albright syndrome?

A

post zygotic mutation of GNAS (not germline)

constitutive cAMP signalling

39
Q

what genes are involved in the development of phaeochromocytoma?

A 
succinate dehydrogenase (B, C and D)
D = head and neck paraganglioma
B = malignant paraganglioma
40
Q

what does succinate dehydrogenase do?

A

key mitochondrial enzymes involved in succinate metabolism and krebs cycle
accumulation of succinate and activation of hypoxia pathways - stabilise HIF 1a

Endocrine (45 decks)

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