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Flashcards in Genetics of Endocrine Disorders Deck (28)
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1

Mitochondrial disorders are inherited from which parent?

Mother

(Mitochondria from the Mother)

2

Which gene is related to multiple endocrine neoplasia type 1?

MEN1

3

Which gene is releated to multiple endocrine neoplasia type 2?

RET

4

The MEN1 gene is a _________ ____________ gene

The MEN1 gene is a tumour suppressor gene

5

Multiple endocrine neoplasia is inherited as an autosomal __________ condition

Multiple endocrine neoplasia is inherited as an autosomal dominant condition

6

What are the most common places for MEN type 1 to manifest?

  1. Parathyroid (95%)
  2. Pituitary (70%)
  3. Pancreas (50%) e.g. insulinoma, gastrinoma
  4. Adrenals
  5. Thyroid
  6. Bronchial

 

7

What is the most common presentation of MEN type 1?

Hypercalcaemia

(due to hyperparathyroidism)

8

What are the most common tumours to be associated with MEN2a?

  1. Medullary thyroid cancer
  2. Parathyroid
  3. Phaeochromocytoma

9

What are the two most common tumours associated with MEN2B?

  1. Medullary thyroid cancer
  2. Phaeochromocytoma

10

What are two key clinical features of MEN2B?

  1. Marfanoid body habitus
  2. Neuromas

11

MEN1 mutations are which type of mutations?

Loss of function

or

Reduced protein production

12

MEN2 mutations are which type of mutation?

Mutations which result in the activation of receptor tyrosine kinase

13

MEN1 mutations occur throughout the coding region

True or false?

True

14

RET mutations occur throughout the coding region

True or false?

False

Mutations affect specific cysteine residues

15

Which type of MEN has a clear phenotype/genotype correlation?

MEN2

16

Why is MEN1 so crucially important?

50% of patients will die as a result of the condition

17

What are the two leading causes of death in patients with MEN1?

  1. Malignant pancreatic neuroendocrine tumour
  2. Thymic carcinoids

18

What are the most common places for MEN2A to manifest?

  1. Parathyroid
  2. Medullary thyroid carcinoma
  3. Phaeochromocytoma (adrenal)

19

What are the most common places for MEN2B to manifest?

  1. Medullary thyroid carcinoma
  2. Phaeochromocytoma (adrenal)

20

As well as carcinoma, what are two other distinctive characteristics of MEN2B?

  1. Mucosal neuromas
  2. Marfanoid body habitus

21

In patients with MEN2, what is the treatment if there is a high risk RET mutation?

Prophylactic thyroidectomy

(to avoid development of medullary thyoid carcinoma)

22

In patients with MEN2, when is the highests risk for medullary thyroid cancer development?

< 1 year old

23

What is Carney Complex?

A hereditary condition associated with spotty skin pigmentation, myxomas, and benign or cancerous tumors

24

Why does Carney Complex often lead to the development of Cushing's syndrome?

Craney complex manifests with primary pigmented nodular adrenocortical disease (PPNAD) - a form of bilateral adrenocortical hyperplasia

PPNAD causes adrenal glands to produce excess cortisol

25

In Carney Complex, it is a mutation in __________ ________ _ which leads to uncontrolled proliferation and adrenocortical hyperplasia

In Carney Complex, it is a mutation in protein kinase A which leads to uncontrolled proliferation and adrenocortical hyperplasia

26

What are the key clinical features of McCune-Albright Syndrome?

  1. Cafe-au-lait pigmentation (often in coast of Maine appearance)
  2. Polyostotic fibrous dysplasia (bones)
  3. Precocious puberty (females)
  4. Thyroid nodules
  5. GH excess (pituitary)
  6. Cushing's syndrome (adrenal)

 

27

Neurofibromatosis type 1 is due to a mutation in which gene?

NF1

28

What are the key clinical signs and symptoms of neurofibromatosis type 1?

  1. Axillary freckling and cafe-au-lait patches
  2. Neurofibromas
  3. Optic gliomas
  4. Scoliosis
  5. Learning difficulties
  6. Phaeochromocytomas (rare)