Endocrine genetics Flashcards
What three genetic endocrine diseases do we need to know?
Multiple endocrine neoplasia (MEN) 1 and 2
Von Hippel Lindau (VHL) disease
What organs tend to be affected in MEN 1/2?
Pancreas
Pituitary
Parathyroid
What causes MEN1?
Loss of MEN1 gene in 11q13 region. Inherit one fault copy and lose other to environment.
What does the MEN1 gene do normally?
Tumour suppressor
When should you suspect MEN1?
When the patient has tumours in 2+ of pit, parathyroid or pancreas.
What causes MEN2?
Gain of function mutation in RET gene
What does the RET gene do?
Pro-oncogene
Why does MEN1 need treated?
50% direct mortality rate
What are the two main methods of death by MEN1?
Malignant pancreatic neuroendocrine tumour
Thymic carcinoids
How do you treat MEN2?
Prophylactic thyroidectomy if very high risk
Screen yearly if lower risk and treat accordingly
What causes VHL syndrome?
A mutation in the VHL gene
What does the VHL gene do?
Encodes for succinate dehydrogenases to allow for electron transfer
What happens if you mutate the VHL gene?
Build up of hypoxia inducible factor proteins leading to cell proliferation.
What does VHL syndrome cause?
Eye tumours
Brain tumours
Kidney tumours
What causes pheochromocytoma/paraganglioma?
Mutations in the succinate dehydrogenase genes
