Endocrine Genetics Flashcards

1
Q

What is MEN1?

A

Autosomal dominant condition characterised by tumours of endocrine glands

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2
Q

What type of gene is MEN1?

A

Tumour suppressor gene

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3
Q

What three main types of tumours do you get and what is also common?

A

Parathyroid hyperplasia
Pituitary adenoma
Pancreatic tumours

Angiofibromas also common

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4
Q

How does parathyroid hyperplasia present?

A

Hypercalcaemia

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5
Q

How does pituitary adenoma of MEN1 present?

A

Macroadenoma

Number of cell lines affected
=> mammotrophs (hyperprolactinaemia)
=> somatotrophs (excess GH)
=> corticotrophs (excess cortisol through excess ACTH)

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6
Q

Which two types of pancreatic tumours can present in MEN1?

A

Insulinomas = tumour of insulin producing B cells

Gastrinomas = tumour of gastrin secreting G cells (may cause peptic ulcers)

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