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Endocrine > genetics of endocrine > Flashcards

genetics of endocrine Flashcards

1
Q

what are monogenic disorders?

A

-disorders caused due to defect in a single gene

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2
Q

what are polygenic disorders?

A

-disorders caused due to defect in multiple genes

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3
Q

what are the 6 different patterns of monogenic inheritence?

A
  • AD
  • AR
  • XLD
  • XLR
  • Y linked
  • mitochondrial
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4
Q

what does MEN1 affect (multiple endocrine noeplasia type 1)?

A

MAINLY 3 Ps
Pituitary
Parathyroid
Pancreas

angiofibromas= common!!

but can also have:

  • gastric carcinoma
  • thymic/ bronchial carcinoids
  • adrenal
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5
Q

is MEN1 autosomal dominant or recessive?

A

MEN1 is autosomal dominant inheritance

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6
Q

what does MEN1 gene mutation typically result in?

A

-loss/reduced protein function

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7
Q

is MEN 2 (multiple endocrine neoplasia type 2) autosomal dominant or recessive?

A

autosomal dominant

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8
Q

what are the 2 types of MEN2 and which is more common?

A

MEN2a (more common)

MEN2b

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9
Q

what type of cancer occurs in almost every patient with MEN2?

A

MTC

medullary thyroid cancer

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10
Q

what mutation is associated with MEN2?

A

RET proto oncogene mutation

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11
Q

what type of MEN is associated with pheochromocytoma?

A

MEN2

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12
Q

what is neurofibromatosis type 1 characterised by?

A
  • axillary freckling
  • cafe au lait patches
  • neurofibromas
  • optic gliomas
  • scoliosis
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13
Q

what mutation causes neurofibromatosis type 1?

A

-mutation in NF1 gene

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14
Q

what type of MEN is associated with parathyroid hyperplasia?

A

MEN2A and MEN1

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15
Q

what is phaechromocytoma?

A

-a rare tumour of the adrenal medulla

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16
Q

how may patients present if there is a MEN1 mutation causing a tumour in the parathyroid?

A

-may present with hypercalcaemia due to parathyroid hyperplasia

17
Q

how may patients present if they have a MEN1 mutation causing a pituitary adenoma?

A
  • If affecting mammotrophs (prolactin cells) may present with hyperprolactinaemia
  • if affecting somatotrophs may present with excess GH
  • if affecting corticotrophins may present with excess cortisol through excess ACTH
18
Q

what is diagnostic criteria for MEN1 mutation?

A

-presence of two or more MEN1 tumour type

19
Q

what are some investigations done if suspected MEN1?

A
  • serum calcium (to detect asymptomatic hypercalcaemia)
  • CT or MRI
  • unlike MEN2 there is no clear evidence of benefit of using DNA testing in general screening
20
Q

what is the management for parathyroid hyperplasia caused by MEN1 mutation?

A

PARATHYROIDECTOMY

-this is indicated when there are pathological features of excess PTH and raised Ca levels for example by osteopenia, nephroliathiasis (kidney stones) and symptomatic hypercalcaemia

21
Q

what is management for pituitary adenoma caused by MEN1 mutation?

A

both surgical and medical options available

Transsphenoidal surgery!

22
Q

what is the main cause of mortality in MEN1 mutations?

A

-pancreatic tumours :(

23
Q

what is the management for insulinomas?

A
  • may be treated pharmacologically with diazoxide (inhibits insulin release)
  • surgery
24
Q

what does diazoxide do?

A

inhibits insulin release

25
Q

what is the treatment for a gastrinoma?

A
  • PPIs

- surgical excisions in those who do not maintain symptomatic relief

26
Q

what does MEN2A cause?

A
  • phaechromocytoma
  • medullary thyroid cancer
  • parathyroid hyperplasia
27
Q

what does MEN2B cause?

A
  • phaeochromocytoma
  • medullary thyroid cancer
  • neuroma and ganglioneuroma
  • marfanoid habitus
28
Q

how many phaechromocytoma present?

A
  • sweating
  • increase BP
  • irregular HB
  • anxious

(basically increase in adrenaline as it affects chromaffin cells in adrenal )glands

29
Q

how does medullary thyroid cancer typically present when there is a MEN2 mutation?

A

-bilateral and multifocal

30
Q

how is MEN2 diagnosed?

A

-if there is presence of two or more MEN2 tumours

OR

-if there is presence of RET oncogene mutation

31
Q

what should be done if someone is found to have a RET oncogene mutation?

A
  • genetic testing of family

- screen patient and their family for tumours

32
Q

what should be done if someone presents with MTC (medullary thyroid cancer)?

A

-screen for other tumours associated with MEN2

33
Q

who is a prophylactic thyroidectomy offered to?

A

-patients with MEN2

34
Q

what is treatment for parathyroid hyperplasia in a patient with MEN2 mutation?

A

parathyroidectomy

35
Q

what is treatment for patient with phaechromocytoma due to MEN2 mutation?

A
  • unilateral or bilateral adrenalectomy

- patients with adrenalectomy should be given synthetic glucocorticoids and mineralocorticoids

36
Q

what is the treatment for a patient with MEN2 mutation who has developed MTC?

A

-thyroidectomy and lymph node dissection

Endocrine (53 decks)

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