questions Flashcards
where would a phaeochromocytoma be found
adrenal medulla
phaeochromocytoma associated with
MEN type II
neurofibromatosis
von hippel-lindau
what is orlistat
anti-obesity drugs
what signalling pathway does GH use
the tyrosine kinase receptor pathway > activation of Janus Kinase > signalling transduction and activation of transcription (STAT)
de quervains thyroiditis
occurs in women post viral infection
presents with thyrotoxicosis which can change to hypothyroidism
histological findings of papillary carcinoma of the thyroid
change in nucleus shape and size and nuclear membrane irregularity
presentation of carcinoid syndrome
diarrhoea facial flushing wheeze abdominal pain tachycardia hypotension
what improves symptoms in carcinoid syndrome
somatostatin analogues- octreotide
what is congenital adrenal hyperplasia
congenital deficiency of 21-hydroxyalse enzyme which causes underproduction of cortisol and aldosterone and over production of androgens
inheritance of congenital adrenal hyperplasia
autosomal recessive
main glucocorticoid hormone
cortisol
main mineralocorticoid
aldosterone
function of mineralocorticoids
act on the kidneys to control the balance of salt and water in the blood
what is testosterone
an androgen
what does 21-hydroxylase do
convert progesterone into aldosterone and cortisol
presentation of congenital adrenal hyperplasia
females: ambiguous genitalia and enlarged clitoris
- hyponatraemia
- hyperkalaemia
- hypoglycaemia
poor feeding
vomiting
dehydration
arrhythmias
management of congenital adrenal hyperplasia
cortisol replacement: hydrocortisone
aldosterone replacement: fludrocortisone
man is euvolaemic
low sodium
elevated urinary sodium
normal thyroid and adrenal
SIADH
best monitoring for medullary thyroid carcinomas
calcitonin
definition of systemic sclerosis
disease characterised by fibrosis across multiple organ systems
limited cutaneous systemic sclerosis
subcatergory of systemic sclerosis that affects fewer organs
sparing the kidneys and the skin on the trunk and proximal limbs
another name for limited cutaneous systemic sclerosis
CREST syndrome
associated antibodies with limited sclerosis
anti-centromere
antibody associated with systemic sclerosis
Scl-70
features of CREST syndrome
calcinosis (hard nodules under the skin)
Raynaud’s
Esophageal dysmotility (food gets stuck on swallowing)
Sclerodactyly (tightening and thickening of the skin over the fingers)
Telangiectasia (prominent dilated capillaries)
fingers become stiff and inflexible and raynauds
CREST
management of CREST
no overall treatment
raynaud’s: calcium channel blockers, iloprost, bosentan
ACEi if renal involved
what is associated with acanthosis nigricans
cushings
marfans is caused by a mutation on which protein
fribrilllin-1
presentation of hypocalcaemia
perioral paraesthesia
cramps
tetany- muscle cramps
convulsions
