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The Endocrine System > Genetics of Endocrine Disorders > Flashcards

Genetics of Endocrine Disorders Flashcards

1
Q

Mitochondrial disorders are inherited from which parent?

A

Mother

(Mitochondria from the Mother)

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2
Q

Which gene is related to multiple endocrine neoplasia type 1?

A

MEN1

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3
Q

Which gene is releated to multiple endocrine neoplasia type 2?

A

RET

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4
Q

The MEN1 gene is a _________ ____________ gene

A

The MEN1 gene is a tumour suppressor gene

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5
Q

Multiple endocrine neoplasia is inherited as an autosomal __________ condition

A

Multiple endocrine neoplasia is inherited as an autosomal dominant condition

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6
Q

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

A
  1. Parathyroid (95%)
  2. Pituitary (70%)
  3. Pancreas (50%) e.g. insulinoma, gastrinoma
  4. Adrenals
  5. Thyroid
  6. Bronchial
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7
Q

What is the most common presentation of MEN type 1?

A

Hypercalcaemia

(due to hyperparathyroidism)

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8
Q

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

A
  1. Medullary thyroid cancer
  2. Parathyroid
  3. Phaeochromocytoma
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9
Q

What are the two most common tumours associated with MEN2B?

A
  1. Medullary thyroid cancer
  2. Phaeochromocytoma
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10
Q

What are two key clinical features of MEN2B?

A
  1. Marfanoid body habitus
  2. Neuromas
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11
Q

MEN1 mutations are which type of mutations?

A

Loss of function

or

Reduced protein production

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12
Q

MEN2 mutations are which type of mutation?

A

Mutations which result in the activation of receptor tyrosine kinase

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13
Q

MEN1 mutations occur throughout the coding region

True or false?

A

True

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14
Q

RET mutations occur throughout the coding region

True or false?

A

False

Mutations affect specific cysteine residues

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15
Q

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

A

MEN2

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16
Q

Why is MEN1 so crucially important?

A

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

17
Q

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

A
  1. Malignant pancreatic neuroendocrine tumour
  2. Thymic carcinoids
18
Q

What are the most common places for MEN2A to manifest?

A
  1. Parathyroid
  2. Medullary thyroid carcinoma
  3. Phaeochromocytoma (adrenal)
19
Q

What are the most common places for MEN2B to manifest?

A
  1. Medullary thyroid carcinoma
  2. Phaeochromocytoma (adrenal)
20
Q

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

A
  1. Mucosal neuromas
  2. Marfanoid body habitus
21
Q

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

A

Prophylactic thyroidectomy

(to avoid development of medullary thyoid carcinoma)

22
Q

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

A

< 1 year old

23
Q

What is Carney Complex?

A

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

24
Q

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

A

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
Q

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

A

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

26
Q

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

A
  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
Q

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

A

NF1

28
Q

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

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

The Endocrine System (35 decks)

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