Endocrinology Flashcards
Tests in newly diagnosed T1DM?
FBC, U&E, glucose
HbA1c
TFTs
coeliac screening
autoantibodies
Presentation of T1DM?
25-50% present with DKA
polyuria
polydipsia
weight loss (dehydration)
secondary enuresis
recurrent UTIs
Autoantibodies associated with T1DM?
insulin antibodies
anti-GAD antibodies
islet cell antibodies
Mx of T1DM?
education (parent and child)
subcutaneous insulin regimes
monitoring dietary carb intake
monitoring blood sugar levels
monitor and manage complications
Short-term complications of T1DM?
hypoglycaemia
hyperglycaemia (+DKA)
Long-term complications of T1DM?
macrovascular complications:
CAD
PAD
stroke
HTN
microvascular complications:
peripheral neuropathy
retinopathy
nephropathy, particularly glomerulosclerosis
infection-related:
UTIs
pneumonia
skin and soft tissue infections
fungal infections, oral and vaginal candidasis
Presentation of DKA?
polyuria
polydipsia
nausea and vomiting
dehydration
weight loss
acetone smell to breath
hypotension
altered consciousness
symptoms of underlying trigger
Diagnosis of DKA?
hyperglycaemia (>11mmol/L)
ketosis (>3mmol/L)
acidosis (<7.3)
Pathophysiology of DKA?
ketoacidosis
dehydration
potassium imbalance
Mx of DKA?
IV fluid resuscitation (10ml/kg/hr)
maintenance fluids + potassium
no insulin for 1st hr
insulin 0.1unit/kg/hr
add 5% dextrose when blood glucose 17mmol/L
What is adrenal insufficiency?
condition where the adrenal glands do not produce enough steroid hormones, particularly cortisol and aldosterone
What is Addison’s disease?
primary adrenal insufficiency (i.e., damage to the adrenal glands)
autoimmune most common
What is secondary adrenal insufficiency?
inadequate secretion of ACTH by the pituitary glands
What is tertiary adrenal insufficiency?
inadequate CRH release from the hypothalamus to stimulate the pituitary
usually the result of sudden cessation of long-term steroids
Features of adrenal insufficiency in babies?
lethargy
vomiting
poor feeding
hypoglycaemia
jaundice
failure to thrive
Features of adrenal insufficiency in older children?
nausea and vomiting
poor weight gain or weight loss
anorexia
abdo pain
muscle cramps
developmental delay or poor academic performance
bronze hyperpigmentation (Addison’s)
Investigations for adrenal insufficiency?
U&Es
blood glucose
cortisol, ACTH, aldosterone and renin
Short synacthen test
U&Es in adrenal insufficiency?
hyponatraemia
hyperkalaemia
hypoglycaemia
Primary vs secondary adrenal insufficiency results?
primary:
low cortisol
high ACTH
low aldosterone
high renin
secondary:
low cortisol
low ACTH
normal aldosterone
normal renin
What is the short synacthen test used for?
to confirm the diagnosis of primary adrenal insufficiency
Short synacthen test results?
performed in morning
administer synacthen (synthetic ACTH)
cortisol levels should at least double - failure to rise indicates primary adrenal insufficiency
Mx of adrenal insufficiency?
hydrocortisone +/- fludrocortisone
steroid card
DON’T STOP
What is an Addisonian crisis?
acute presentation of severe Addison’s disease
reduced consciousness
hypotension
hypoglycaemia, hyponatraemia, hyperkalaemia
can be first presentation, triggered by illness or if someone stops taking their steroids abruptly
Mx of Addisonian crisis?
IV hydrocortisone
IV fluid resuscitation
correct hypoglycaemia
careful monitoring of electrolytes and fluid balance
What causes congenital adrenal hyperplasia?
deficiency of the 21-hydroxylase enzyme
21-hydroxylase converts progesterone to cortisol and aldosterone
absence of this enzyme -> excess progesterone that gets converted into testosterone
What is congenital adrenal hyperplasia?
an autosomal recessive genetic condition that causes overproduction of androgens and underproduction of cortisol and aldosterone
Presentation of congenital adrenal hyperplasia?
severe cases:
ambiguous genitalia
hyponatraemia, hyperkalaemia, hypoglycaemia
poor feeding
vomiting
dehydration
arrhythmias
milder cases:
girls:
tall
hirsutism
primary amenorrhoea
deep voice
early puberty
boys:
tall
deep voice
large penis
small testes
early puberty
hyperpigmentation (due to incr. ACTH because of low cortisol levels)
Mx of congenital adrenal hyperplasia?
refer to paediatric endocrinologist
hydrocortisone +/- fludrocortisone
corrective sx
Causes of GH deficiency?
congenital (genetic mutations, empty sella syndrome)
acquired (damage to pituitary)
Presentation of GH deficiency?
neonates:
micropenis
hypoglycaemia
severe jaundice
older children:
poor growth
short stature
slow development of movement and strength
delayed puberty
Investigations for GH deficiency?
GH stimulation test
test for other associated hormone deficiency (thyroid, adrenal)
MRI brain
genetic testing (Turner, Prader-Willi)
X-ray of wrist
Mx of GH deficiency?
daily SC injections of GH
management of other associated conditions
monitoring of height and development
Types of hypothyroidism?
congenital (usually picked up on heelprick test)
acquired
Presentation of congenital hypothyroidism?
usually picked up on heelprick test
prolonged neonatal jaundice
poor feeding
constipation
incr. sleeping
red. activity
delayed development and growth
Presentation of acquired hypothyroidism?
fatigue and low energy
poor growth
weight gain
poor school performance
constipation
dry skin
hair loss
Most common cause of acquired hypothyroidism?
Hashimoto’s thyroiditis
Antibodies in Hashimoto’s thryoiditis?
anti-TPO antibodies
anti-Tg antibodies
Associated diseases with Hashimoto’s thyroiditis?
T1DM
coeliac disease
Investigations for hypothyroidism?
referral paediatric endocrinologist
TFTs
thyroid antibodies
screen for other autoimmune diseases
Mx of hypothyroidism?
levothyroxine
