What causes congenital adrenal hyperplasia?
Enzyme defects in steroid pathway
What is the commonest type of congenital adrenal hyperplasia?
21alpha hydroxylase deficiency
Is 21alpha hydroxylase deficiency autosomal dominant or recessive?
Why is progesterone measured to diagnose 21alpha hydroxylase deficiency?
Metabolite at end of chain because enzyme is defective
Which part of the adrenal gland produces catecholamines?
What are some catecholamines produced by the adrenal medulla?
Which adrenal adenoma secretes catecholamines?
Which genetic syndromes are associated with phaeochromocytoma?
Von Hippel-Lindau syndrome
What percentage of phaeochromocytomas are malignant, bilateral and extra-adrenal?
What is a phaeochromocytoma called if it is found outwith the adrenal gland, e.g in the sympathetic chain?
What is the classical triad of symptoms in phaeochromocytoma patients?
How are patients with suspected phaeochromocytomas investigated?
Then 3 x 24h urine catecholamines
Which scans can be used to investigate suspected phaeochromocytoma?
MIBG scan (radioisotope scan)
Patients with phaeochromocytomas may also be (hyper/hypo)glycaemic.
How are phaeochromocytomas treated?
Then β blocker
Then surgical excision
Why must patients be put on alpha blockers before beta blockers and surgery?
Hypertensive crisis > Cardiac arrest
As phaeochromocytomas are associated with genetic syndromes, what else may be involved in their treatment?