Adrenal Disease

Question 1

What are the two main adrenal medullary tumours?

Answer 1

Neuroblastoma

Phaeochromocytoma

Question 2

From which cells is Phaeochromocytoma derived?

Answer 2

Chromaffin cells of adrenal medulla

Question 3

What do Phaeochromocytoma secrete?

Answer 3

Catecholamines

Question 4

Why is Phaeochromocytoma called the 10% tumour?

Answer 4

10% are extra-adrenal
10% are bilateral
10% are malignant
10% are not assoc. with hypertension

Question 5

Which adrenal disorder is associated with dark/pigmented skin?

Answer 5

Addison’s disease

high ACTH

Question 6

What are the main primary adrenal insufficiencies?

Answer 6

Addison’s disease
Congenital adrenal hyperplasia
Malignancy
Adrenal TB

Question 7

What is the commonest cause of primary adrenal insufficiency?

Answer 7

Addison’s disease

Question 8

Is Addison’s disease an autoimmune condition?

Answer 8

Yes

Assoc. with autoantibodies in 70%

Question 9

List clinical features of Addison’s disease

Answer 9

Dizziness
Low BP
Fatigue, lethargy
Anorexia, weight loss
Skin pigmentation

Question 10

What would sodium and potassium levels be like in Addison’s disease?

Answer 10

Low sodium

High potassium

Question 11

Which diagnostic test is used for Addison’s disease?

Answer 11

Short synACTHen test

give synthetic ACTH and measure cortisol levels

Question 12

Outline management of adrenal insufficiency

Answer 12

Hydrocortisone 30mg

Fludrocortisone (replace aldosterone)

Question 13

Patients on hydrocortisone for adrenal insufficiency can stop whenever they want. True/False?

Answer 13

False

Never stop suddenly but can reduce dose

Question 14

List causes of secondary adrenal insufficiency

Answer 14

Pituitary/hypothalamic tumours

Exogenous steroid use (prednisolone)

Question 15

What is the effect of exogenous steroid on the H-P-adrenal cortex axis?

Answer 15

Suppress CRH and ACTH

Question 16

What hormone is in excess in Cushing’s syndrome?

Answer 16

Cortisol

Question 17

Cushing’s syndrome is commoner in men. True/False?

Answer 17

False

Females

Question 18

List clinical features of Cushing’s syndrome

Answer 18

Moon-face
Abdominal striae
Thin skin, easy bruising
Proximal myopathy
Osteoporosis

Question 19

What are the ACTH-dependent causes of Cushing’s syndrome?

Answer 19

Pituitary disease/adenoma

Ectopic tumours

Question 20

What are the ACTH-independent causes of Cushing’s syndrome?

Answer 20

Adrenal disease/adenoma

Nodular hyperplasia

Question 21

What is the gold-standard test for diagnosing Cushing’s syndrome?

Answer 21

Low-dose dexamethasone suppression test

0.5mg every 6hrs for 2 days; cortisol should be less than 50 in normal circumstances

Question 22

What is the commonest cause of cortisol excess?

Answer 22

High-dose steroid therapy (e.g. asthma, IBD)

Question 23

What is primary aldosteronism?

Answer 23

Autonomous production of aldosterone, independent of its regulators

Question 24

Which syndrome occurs due to aldosteronism?

Answer 24

Conn’s syndrome

Question 25

What is the commonest cause of secondary hypertension?

Answer 25

Primary aldosteronism

Question 26

Outline how an aldosterone excess is diagnosed

Answer 26

Measure aldosterone : renin ratio If raised, do saline suppression test Failure of aldosterone to suppress by 50% with 2L saline confirms aldosteronism

Question 27

What are the main causes of aldosteronism?

Answer 27

Adrenal hyperplasiaa Adrenal adenoma Genetic mutations

Question 28

Outline management of primary aldosteronism

Answer 28

Adrenalectomy if unilateral adenoma | Drug (spironolactone) if bilateral hyperplasia

Question 29

What is the commonest cause of congenital adrenal hyperplasia?

Answer 29

21-alpha-hydroxylase deficiency

Question 30

What 3 main effects does 21-alpha-hydroxylase deficiency cause?

Answer 30

Low cortisol Low aldosterone Excess androgens

Question 31

What is the classical triad of symptoms in Phaeochromocytoma?

Answer 31

Hypertension or postural hypotension Headache Sweating

Question 32

How is Phaeochromocytoma diagnosed?

Answer 32

MRI scan MIBG PET scan

Question 33

Outline therapy for phaeochromocytoma

Answer 33

Alpha blocker (phenoxybenzamine) Beta blocker (propranolol/atenolol) Fluid replacement Surgical excision

Question 34

Phaeochromocytoma is assoc. with which clinical syndromes?

Answer 34

``` MEN 2 (multiple endocrine neoplasia type 2) Von-Hippel-Lindau syndrome Succinate dehydrogenase mutations Neurofibromatosis Tuberose sclerosis ```

Question 35

Which gene is affected in MEN 1?

Answer 35

MEN1 gene (11q)

Question 36

Which gene is affected in MEN 2?

Answer 36

RET gene (10q)

Question 37

The MEN1 gene is a tumour suppressor. True/False?

Answer 37

True

Question 38

Is the RET gene a tumour suppressor or proto-oncogene?

Answer 38

Proto-oncogene

Question 39

Von-Hippel-Lindau syndrome is caused by mutation in which gene?

Answer 39

VHL gene