Endocrine Genetics Flashcards
What is MEN1?
Autosomal dominant condition characterised by tumours of endocrine glands
What type of gene is MEN1?
Tumour suppressor gene
What three main types of tumours do you get and what is also common?
Parathyroid hyperplasia
Pituitary adenoma
Pancreatic tumours
Angiofibromas also common
How does parathyroid hyperplasia present?
Hypercalcaemia
How does pituitary adenoma of MEN1 present?
Macroadenoma
Number of cell lines affected
=> mammotrophs (hyperprolactinaemia)
=> somatotrophs (excess GH)
=> corticotrophs (excess cortisol through excess ACTH)
Which two types of pancreatic tumours can present in MEN1?
Insulinomas = tumour of insulin producing B cells
Gastrinomas = tumour of gastrin secreting G cells (may cause peptic ulcers)