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Year 2(B3) - Endocrine > Week 4 - E - Endocrine genetics - paul newy > Flashcards

Week 4 - E - Endocrine genetics - paul newy Flashcards

1
Q

Monogenic disorders are inheritance patterns due to single gene disorders What are the 6 forms of monogenic inheritance?

A

Autosomal dominant

Autosomal recessive

X-linked dominant

X-linked recessive

Y-linked

Mitochondrial

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2
Q

https://s3.amazonaws.com/classconnection/403/flashcards/11907403/png/picture1jpg-1595D4274940C413051.png

A

Autosomal recessive

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3
Q

https://s3.amazonaws.com/classconnection/403/flashcards/11907403/png/picture1jpg-1595DB5223B31AE5314.png

A

Autosomal dominant

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4
Q

If most of the offsrping affected by a disease are male, is it thought to be an autosomal or x-linked recessive inheritance?

A

Thought to be an x-linked recessive inheritance

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5
Q

What chromosomes do autosome affect vs what chromosomes do x/y-linked conditions affect?

A

Autosomal conditions can affect any chromosome that is not a sex-chromosome

x/y-linked chromosomes affect the sex chromosomes

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6
Q

What type of marriage do children with autosomal recessive appear?

A

Appears more frequently among the children of consanguine marriages (inbred)

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7
Q

In an autosomal dominant condition, can the person be a carrier yet not be affected?

A

NO

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8
Q

Can an x-linked recessive disorder be carried on from father to son?

In y-linked inheritance disorders, what sex is affected?

A

NEVER

Male

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9
Q

When a female has a mutation in the mitochondrial DNA, is the trait inherited by all first pedigree offspring? What about second degree offspring?

A

in the first pedigree, you will see that when a female has the trait, all of her offspring have the trait, but in the second pedigree, this is not necessarily the case.

The expression of mitochondrial conditions is variable.

Inside each cell, there are several mitochondria.

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10
Q

In mitochondrial inheritance, if a male has the trait and his spouse doesnt, will the offspring have the trait?

A

NO

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11
Q

https://s3.amazonaws.com/classconnection/403/flashcards/11907403/png/picture1jpg-1595E05C42D70664344.png

A

X-linked dominant

X-linked cannot be carried from father to son

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12
Q

https://s3.amazonaws.com/classconnection/403/flashcards/11907403/png/picture1jpg-1595E2B88636FBA8DA3.png

A

X-linked recessive

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13
Q

There can be no carriers in an x-linked dominant or an autosomal dominant condition, therefore when there when one carrier passes on to a male and the male then is affected by the trait, is this x-lined recessive or autosomal recessive?

A

X-linked recessive as the male only has one x chromosome

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14
Q

https://s3.amazonaws.com/classconnection/403/flashcards/11907403/png/picture1jpg-1595E34C1DA38ED832B.png

A

Y-linked inheritance - only males affected

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15
Q

https://s3.amazonaws.com/classconnection/403/flashcards/11907403/png/picture1jpg-1595E382DCA17C4148D.png

A

Mitochondiral inheritance - all offspring from affected mother have trait

Offsrping from affected father do no carry trait

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16
Q

What is the name of the conditions causing benign or malignant tumours to various parts of the endocrine system?

A

MEN - multiple endocrine neoplasia

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17
Q

What are the 3common tumours expressed in MEN 1?

A

The 3 common tumours are the 3Ps

Pituitary tumour

Parathyroid tumour

Pancreatic tumour

18
Q

What gene causes MEN1 and what is the mode of inheritance? What type of gene is it?

A

MEN1 gene - classical tumour suppresor gene

Autosomal dominant

19
Q

Both MEN2a and MEN2b have pheochromocytomas (tumours of the adrenal medulla) What are the tumours/features that differentiates MEN2a from MEN2b?

A

MEN2a

  • Medullary thyroid cancers (Increased calcitonin)
  • Parathyroid tumour,
  • Pheochromocytoma

MEN2b

  • Mucosal neuromas (usually on tongue or gums),
  • marfinoid habitus
  • Parathyroid tumour ,
  • Pheochromocytoma
20
Q

What gene is affected in MEN2?

A

RET gene - classical proto-ongo gene

Autosomal dominant

21
Q

What percentage of individuals will die as a direct result of MEN1?

A

50% will die as a direct result

22
Q

Carcinoid is a rare tumour that begins in cells in the neuroendocrine system What is the neuroendocrine secretory protein used as a tumour marker for carcinoid tumours?

A

Chromagranin A - raised when there are neuroendocrine tumours

23
Q

When a child is identified to have an MEN1 mutation, what protocols are taken?

A

Reassurance to those without the familial MEN1 mutation

Periodic screening and early tumour detection in those at risk

Appropriate genetic counselling

24
Q

What is the biochemical test for an insulinoma and a gastrinoma?

A

Insulinoma - measure insuin levels whilst glucose fasting (usually 8hours without food or liquid except water)

Gastrinoma - measure gastrin levels

25
Q

In MEN2, what treatment is carried out prophylactically if there is a high risk RET mutation?

A

Prophylactic thyroidectomy due to the medullary thyroid cancer risk

26
Q

What hormonal excesses are possible in MEN1? What is the name for a gastrin secreting tumour?

A

Pituitary tumour - prolactin, IGF-1, ACTH

Parathyroid - PTH

Pancreatic - insulinoma, gastrinoma, glucagonoma

Gastrin secreting tumour (gastrinoma) - zollinger ellison syndrome

27
Q

What hormonal excesses are usually found in MEN2?

A

Medullary thyroid cancer - C-cell cancer therefore raised calcitonin

Parathyroid tumour (MEN2a)- raised PTH

Pheochromocytoma - raised catecholamines (adrenaline and noradrenaline)

28
Q

Carney complex is an autosomal dominant syndrome associated with spotty pigmentation of the skin, endocrinopathy, and endocrine and nonendocrine tumors Where is the spotty pigmentation on the skin most commonly found?

A

Spotty pigmentation - lips, eyes, canthi (outer and inner corners of where upper and lower eyelid meet), penis and vagina

29
Q

What can happen due to the growth hormone secreting pituitary adenoma in carney complex and what are the locations of the myxomas? What is a myxoma?

A

Person can get acromegaly

Can get heart, cutaneous and breast myxoma usually

A myxoma is a benign tumour of the connective tissue

30
Q

What in the Carney complex causes cushing syndrome?

A

PPNAD - primary pigmented nodular adrenocortical disease causes the adrenal glands to produce excess cortisol leading to cushing’s sydrome

31
Q

What is the gene that becomes mutated in Carney complex?

A

PRKAR1 gene

32
Q

What three factors usually make you consider a MCuney-Alright syndrome?

A

Hyperfunctioning endocrine disease

Cafe-au lait skin pigmentation

Fibrous dysplasia

33
Q

What does the hyperfunctioning endocrine system cause? (eg symptoms, names of conditions) What gene is mutated in McCune Albright?

A

Excess pituitary hormone prodcution

Leading to - increased thyroid hormone, cortisol, estrogen and growth hormone

GNAS1 mutation

34
Q

Both the mutation in Carney complex and McCune Albright cause increased C-amp signalling What is the difference in the skin symptoms between the two?

A

Carney complex causes skin pigmentation eg blue naevia spots in lips, eyes and genitalia

McCune-Albright causes cafe-au lait skin and fibrous dysplasia

35
Q

Von Hippel-Lindau syndrome (VHL) is a hereditary condition associated with blood vessel tumors of the brain, spinal cord, and eye What are these tumours known as? What is the more specific name for the tumours of the eye?

A

haemangioblastomas

Eye tumours are the retinal haemangiomas

36
Q

Where are the two common locations for cysts to present in Von-Hippel Lindau syndrome?

A

Pancreatic and kidney cysts

37
Q

The mutation in the VHL gene leads to accumualtion of what in VHL?

A

Gene mutation leads to accumulation of HIF proteins and stimulation of cellular proliferation

38
Q

Axillary freckling, Café-au-lait patches, Neurofibromas, Optic gliomas, Scoliosis. What are these all signs of? What is the gene that mutates in this condition?

A

Neurofibromatosis type 1

Mutated gene is NF1 gene

39
Q

What can rarely happen in NF type 1 causing sweating attacks?

A

Pheochromoctyoma can occur

40
Q

What 4 characteristics together are strongly suggestive of a pheochromocytoma?

A

headaches,

palpitations, and

diaphoresis (excessive sweating)

in association with severe hypertension

41
Q

What conditions discussed in this flaschard set can pheochromocytoma occur in? Include the gene mutation

A

NF1 - NF1 gene mutation

VHL - VHL gene mutation

MEN2 - RET gene mutation

42
Q

What diseases mentioned can cause an increase in growth hormone production?

A

Carney complex

McCune Albright syndrome

Just a growth hormone secreting tumour causing acromegaly

Year 2(B3) - Endocrine (35 decks)

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