adrenal gland 2

Question 1

CAH cause

Answer 1

21alpja-hydroxylase deficiency
autosomal recessive

Question 2

when is classic CAH diagnosed

Answer 2

typically diagnosed in infancy (e.g. virilisation/salt wasting)

Question 3

non-classic CAH cause and presentation

Answer 3

partial 21alpha hydroxylase deficiency
presents in adolescence/adulthood w/ hirsutism, menstrual disturbance, infertility due to anovulation

Question 4

diagnosis of CAH

Answer 4

basal or stimulated 17OH progesterone
increasingly supported by genetic mutation analysis

Question 5

non classical presentations of CAH (typically in females)

Answer 5

hirsute
acne
oligomenorrhoea
percocious puberty
infertility or sub-fertility

Question 6

principles treatment of CAH (paeds)

Answer 6

timely recognition
glucocorticoid replacement
mineralocorticoid replacement in some
surgical correction
achieve maximal growth potential

Question 7

principles of treatment of CAH (adult physicians)

Answer 7

control androgen excess
restore fertility
avoid steroid over-replacement

Question 8

clues to phaeochromocytoma

Answer 8

labile hypertension
postural hypotension
paroxysmal sweating, headache, pallor, tachychardia

Question 9

rare tumours in adrenal medulla and extra adrenal

Answer 9

adrenal medulla - phaeochromocytoma
extra adrenal (sympathetic chain) - paraganglioma

Question 10

presentation symptoms

Answer 10

classic triad - hypertension, headache, sweating
palpitations, breathlessness, constipation, anxiety/fear, weight loss, flushing - uncommon, incidental finding on imaging, family tracing

Question 11

signs

Answer 11

hypertension, postural hypotension in 50% cases, pallor, bradycardia and tachycardia, pyrexia

complications - LV failure, myocardial necrosis, stroke, shock, paralytic ileus of bowel

Question 12

biochemical abnormalities

Answer 12

hyperglycaemia - adrenaline secreting tumours
may have low K level
high haematocrit - raised Hb conc.
mild hypercalcaemia
lactic adicosis - in absence of shock

Question 13

diagnosis of phaeochromocytoma

Answer 13

identify source of catecholamine excess
MRI scan abdomen and whole body
MIBG metaiodobenzylguanidine
PET scan
difficulties w/ borderline cases

Question 14

approach to therapy

Answer 14

full alpha and beta blockade a before b
fluid and or blood replacement
careful anaesthetic assessment

Question 15

treatment

Answer 15

surgical - laparoscopic
chemo if malignant
radio-labelled MIBG
long term follow up
genetic testing
family tracing and investigation

Question 16

clinical syndrome associations

Answer 16

multiple endocrine neoplasia 2 (MEN2)
von-hippel-lindau syndrome
succinate dehydrogenase mutations
neurofibromatosis
tuberose sclerosis
others

Question 17

pitfalls in phaeochromocytoma

Answer 17

catecholamines raised in heart failure
episodic catecholamine secretion - levels in plasma + urine may be normal
malignant and extra-adrenal tumours less efficient at catecholamine synthesis (dopamine > norepinephrine > adrenaline)