4: Endocrine genetics Flashcards

1
Q

Endocrine diseases have a ___ component.

A

genetic component

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are two general types of genetic disease?

A

Monogenic (caused by one gene)

Polygenic (caused by several genes + probably environment)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What are six modes of inheritance of monogenic disorders?

A

Autosomal dom

Autosomal recessive

X-linked dom and recessive

Y-linked

Mitochondrial

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

linkage studies for monogenic

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is a GWAS?

A

Genome-wide association study

used to identify mutations responsible for polygenic disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Mendelian diseases tend to have ___ penetrance and ___ frequency.

Polygenic diseases tend to have ___ penetrance and __ frequency.

A

Mendelian - high penetrance, low frequency

Polygenic - low penetrance, high frequency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are the two most understood monogenic endocrine syndromes?

A

MEN1

MEN2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

MEN1 = 3 Ps (pituitary, parathyroid, pancreas)

MEN2A = parathyroid, medullary thyroid cancer, phaeo

MEN2B = mucosal neuromas, marfanoid appearance, medullary thyroid cancer, phaeo

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Mutation in which gene causes MEN1?

A

MEN1 gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Mutation in which gene causes MEN2?

A

RET gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

men1 = tumour suppressor gene, one copy

then “second hit” - environmental factor switches off second tumour suppressor gene, leading to tumour genesis

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

MEN1 - inactivation of tumour suppressor

MEN2 - activation of 1 oncogene

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What disease tends to cause the 50% early mortality seen in MEN1 patients?

A

Malignant pancreatic tumours

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

As most patients with MEN2 will develop a medullary thyroid cancer, what treatment is carried out prophylactically?

A

Thyroidectomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Carney Complex:

cushing’s disease

acromegaly

thyroid cancer

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

mccune-albright:

cafe au lait macules

bone disease

precocious puberty

A
17
Q

Von-Hippel-Lindau:

renal cysts > cancer

haemangioblastomas

phaeochromocytomas

A
18
Q

Neurofibromatosis type 1:

cafe au lait macules

neurofibromas

optic gliomas

scoliosis

A
19
Q

10%s of phaeochromocytoma:

10% malignant

10% bilateral

10% genetic basis

A