Endocrine Genetics

Question 1

What is MEN1?

Answer 1

Autosomal dominant condition characterised by tumours of endocrine glands

Question 2

What type of gene is MEN1?

Answer 2

Tumour suppressor gene

Question 3

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

Answer 3

Parathyroid hyperplasia
Pituitary adenoma
Pancreatic tumours

Angiofibromas also common

Question 4

How does parathyroid hyperplasia present?

Answer 4

Hypercalcaemia

Question 5

How does pituitary adenoma of MEN1 present?

Answer 5

Macroadenoma

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

Question 6

Which two types of pancreatic tumours can present in MEN1?

Answer 6

Insulinomas = tumour of insulin producing B cells

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