6: Adrenal gland disorders 2 - congenital adrenal hyperplasia, phaeochromocytomas Flashcards Preview

Endocrine Week 4 2017/18 > 6: Adrenal gland disorders 2 - congenital adrenal hyperplasia, phaeochromocytomas > Flashcards

Flashcards in 6: Adrenal gland disorders 2 - congenital adrenal hyperplasia, phaeochromocytomas Deck (17)
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1

What causes congenital adrenal hyperplasia?

Enzyme defects in steroid pathway

2

What is the commonest type of congenital adrenal hyperplasia?

21alpha hydroxylase deficiency

3

Is 21alpha hydroxylase deficiency autosomal dominant or recessive?

autosomal recessive

4

Why is progesterone measured to diagnose 21alpha hydroxylase deficiency?

Metabolite at end of chain because enzyme is defective

5

Which part of the adrenal gland produces catecholamines?

Adrenal medulla

6

What are some catecholamines produced by the adrenal medulla?

(Nor)adrenaline

Dopamine

7

Which adrenal adenoma secretes catecholamines?

Phaeochromocytoma

8

Which genetic syndromes are associated with phaeochromocytoma?

MEN2a

MEN2b

Von Hippel-Lindau syndrome

Neurofibromatosis

9

What percentage of phaeochromocytomas are malignant, bilateral and extra-adrenal?

10%

10% tumour

10

What is a phaeochromocytoma called if it is found outwith the adrenal gland, e.g in the sympathetic chain?

Paraganglioma

11

What is the classical triad of symptoms in phaeochromocytoma patients?

Hypertension

Headache

Sweating

12

How are patients with suspected phaeochromocytomas investigated?

Blood catecholamines

Then 3 x 24h urine catecholamines

13

Which scans can be used to investigate suspected phaeochromocytoma?

CT/MRI abdomen

MIBG scan (radioisotope scan)

14

Patients with phaeochromocytomas may also be (hyper/hypo)glycaemic.

hyperglycaemic

15

How are phaeochromocytomas treated?

α​ blocker

Then β​ blocker

Then surgical excision

16

Why must patients be put on alpha blockers before beta blockers and surgery?

Hypertensive crisis > Cardiac arrest

17

As phaeochromocytomas are associated with genetic syndromes, what else may be involved in their treatment?

Genetic counselling