Endo- adrenal disorders

Question 1

what is cushings syndrome

Answer 1

increased free circulating glucocorticoid

Question 2

what differentiates cushings syndrome from cushings disease

Answer 2

cushings disease is when the increased cortisol levels are caused by a functioning pituitary adenoma; all other causes are referred to as cushings syndrome

Question 3

ACTH dependent causes of cushings syndrome/disease

Answer 3

pituitary adenoma (68%)
ectopic ACTH- carcinoid/carcinomas
ectopic CRH

Question 4

ACTH independent causes of cushings syndrome

Answer 4

exogenous steroids
adrenal adenoma or carcinoma
Adrenal cortical nodular hyperplasia

Question 5

what are some conditions which cause a false positive for cushings syndrome (pseudo)

Answer 5

severe depression
severe alcoholism

Question 6

general clinical features of cushings syndrome

Answer 6

plethora (red face)
moon face
hypertension
central obesity
depression/psychosis
Glycosuria/diabetes mellitus
oedema
‘buffalo hump’
Virilism

Question 7

clinical features of the skin in cushings syndrome

Answer 7

brushing
striae
pigmentation (only ACTH dependant cause)
thin skin
hirsutism
acne

Question 8

MSK clinical features in cushings syndrome

Answer 8

proximal myopathy, wasting
osteoporosis, fractures

Question 9

first line investigation for cushings syndrome

Answer 9

overnight 1mg dexamethasone suppression test (oral)
normal- cortisol <50 nmol/l next morning
abnormal- cortisol >130 nmol/l

Question 10

what is primary adrenal insufficiency (addisons disease)

Answer 10

decreased production of adrenocortical hormones (glucocorticoids, mineralocorticoids, and adrenal androgens)

Question 11

most common cause of Addisons disease

Answer 11

autoimmune adrenalitis- 80-90% of all cases

Question 12

what other autoimmune diseases are associated with Addisons disease

Answer 12

T1DM
thyroid autoimmune diseases
penicious anaemia

Question 13

other causes of Addisons disease other than autoimmune adrenalitis

Answer 13

infectious- tb, CMV disease, HIV
metastatic malignancy- lung, breast
adrenal haemorrhage

Question 14

what electrolyte imbalances occur in Addisons disease due to decreased mineralocorticoids

Answer 14

potassium retention
sodium loss

Question 15

what are the clinical consequences in Addisons disease of decreased mineralocorticoids

Answer 15

hyperkalaemia
hyponatraemia
volume depletion
hypertension

Question 16

what metabolic effect is caused in Addisons disease by decreased glucocorticoids

Answer 16

hypoglycaemia

Question 17

clinical features of Addisons disease

Answer 17

S+S occur once >90% gland destroyed
vague symptoms- weak, anorexic, fatigue, N+V, weight loss, diarrhoea, dizziness and low bp, abdominal pain
skin pigmentation- look ‘tanned’, black spots in buccal mucosa, dark palmar creases and finger spaces

Question 18

what percentage of patients with Addisons disease will have positive adrenal autoantibodies

Answer 18

about 70%

Question 19

what biochemical abnormalities are typically seen in Addisons disease

Answer 19

decreased sodium
increased potassium
possibly hypoglycaemia (especially in paeds)

Question 20

renin/aldosterone levels in Addisons disease

Answer 20

> renin
< aldosterone

Question 21

what is the purpose of the Short synacthen test

Answer 21

to assess adrenal gland response to ACTH stimulation

Question 22

what is the primary medication used for cortisol replacement in Addisons disease

Answer 22

hydrocortisone

Question 23

what medication is used to replace aldosterone in Addisons disease

Answer 23

fludrocortisone

Question 24

gold standard investigation for Addisons disease

Answer 24

short synacthen test

Question 25

in which part of the adrenal gland are mineralocorticoids produced (eg aldosterone)

Answer 25

zona glomerulosa

Question 26

in which part of the adrenal gland are glucocorticoids produced (eg cortisol)

Answer 26

zona fasciculata

Question 27

what is an adrenal adenoma

Answer 27

benign neoplasm emerging from the cells of the adrenal cortex

Question 28

what colour are the majority of adrenal adenomas

Answer 28

bright yellow

Question 29

what are adrenocorticiol carcinomas

Answer 29

very rare malignancy of the adrenal cortex

Question 30

which are rarer adrenal adenomas or adrenocorticol carcinomas?

Answer 30

adrenocorticol carcinomas

Question 31

what can adrenocorticol carcinomas be associated with in younger patients

Answer 31

Li-Fraumeni syndrome

Question 32

clinical features of adrenocorticol carcinomas

Answer 32

hormonal effects abdominal mass effects carcinomas with necrosis can cause fever

Question 33

what is primary hyperaldosteronism

Answer 33

autonomous production of aldosterone independent of its regulators (angiotensin II/potassium)

Question 34

what is Conns syndrome

Answer 34

primary hyperaldosteronism caused by adrenal adenoma

Question 35

what is the commonest secondary cause of hypertension

Answer 35

primary hyperaldosteronism

Question 36

clinical features of primary hyperaldosteronism

Answer 36

significant hypertension hypokalaemia (~30%) alkalosis

Question 37

initial screening test for conns syndrome

Answer 37

aldosterone to renin ratio

Question 38

90% of congenital adrenal hyperplasia due to what genetic inheritance

Answer 38

autosomal recessive 21a-hydroxylase deficiency

Question 39

what does 21a-hydroxylase deficiency prevent the production of

Answer 39

aldosterone and cortisol