Endocrinology

Question 1

Tests in newly diagnosed T1DM?

Answer 1

FBC, U&E, glucose
HbA1c
TFTs
coeliac screening
autoantibodies

Question 2

Presentation of T1DM?

Answer 2

25-50% present with DKA
polyuria
polydipsia
weight loss (dehydration)

secondary enuresis
recurrent UTIs

Question 3

Autoantibodies associated with T1DM?

Answer 3

insulin antibodies
anti-GAD antibodies
islet cell antibodies

Question 4

Mx of T1DM?

Answer 4

education (parent and child)
subcutaneous insulin regimes
monitoring dietary carb intake
monitoring blood sugar levels
monitor and manage complications

Question 5

Short-term complications of T1DM?

Answer 5

hypoglycaemia
hyperglycaemia (+DKA)

Question 6

Long-term complications of T1DM?

Answer 6

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

Question 7

Presentation of DKA?

Answer 7

polyuria
polydipsia
nausea and vomiting
dehydration
weight loss
acetone smell to breath
hypotension
altered consciousness
symptoms of underlying trigger

Question 8

Diagnosis of DKA?

Answer 8

hyperglycaemia (>11mmol/L)
ketosis (>3mmol/L)
acidosis (<7.3)

Question 9

Pathophysiology of DKA?

Answer 9

ketoacidosis
dehydration
potassium imbalance

Question 10

Mx of DKA?

Answer 10

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

Question 11

What is adrenal insufficiency?

Answer 11

condition where the adrenal glands do not produce enough steroid hormones, particularly cortisol and aldosterone

Question 12

What is Addison’s disease?

Answer 12

primary adrenal insufficiency (i.e., damage to the adrenal glands)
autoimmune most common

Question 13

What is secondary adrenal insufficiency?

Answer 13

inadequate secretion of ACTH by the pituitary glands

Question 14

What is tertiary adrenal insufficiency?

Answer 14

inadequate CRH release from the hypothalamus to stimulate the pituitary

usually the result of sudden cessation of long-term steroids

Question 15

Features of adrenal insufficiency in babies?

Answer 15

lethargy
vomiting
poor feeding
hypoglycaemia
jaundice
failure to thrive

Question 16

Features of adrenal insufficiency in older children?

Answer 16

nausea and vomiting
poor weight gain or weight loss
anorexia
abdo pain
muscle cramps
developmental delay or poor academic performance
bronze hyperpigmentation (Addison’s)

Question 17

Investigations for adrenal insufficiency?

Answer 17

U&Es
blood glucose
cortisol, ACTH, aldosterone and renin
Short synacthen test

Question 18

U&Es in adrenal insufficiency?

Answer 18

hyponatraemia
hyperkalaemia
hypoglycaemia

Question 19

Primary vs secondary adrenal insufficiency results?

Answer 19

primary:
low cortisol
high ACTH
low aldosterone
high renin

secondary:
low cortisol
low ACTH
normal aldosterone
normal renin

Question 20

What is the short synacthen test used for?

Answer 20

to confirm the diagnosis of primary adrenal insufficiency

Question 21

Short synacthen test results?

Answer 21

performed in morning
administer synacthen (synthetic ACTH)
cortisol levels should at least double - failure to rise indicates primary adrenal insufficiency

Question 22

Mx of adrenal insufficiency?

Answer 22

hydrocortisone +/- fludrocortisone
steroid card
DON’T STOP

Question 23

What is an Addisonian crisis?

Answer 23

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

Question 24

Mx of Addisonian crisis?

Answer 24

IV hydrocortisone
IV fluid resuscitation
correct hypoglycaemia
careful monitoring of electrolytes and fluid balance

Question 25

What causes congenital adrenal hyperplasia?

Answer 25

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

Question 26

What is congenital adrenal hyperplasia?

Answer 26

an autosomal recessive genetic condition that causes overproduction of androgens and underproduction of cortisol and aldosterone

Question 27

Presentation of congenital adrenal hyperplasia?

Answer 27

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)

Question 28

Mx of congenital adrenal hyperplasia?

Answer 28

refer to paediatric endocrinologist hydrocortisone +/- fludrocortisone corrective sx

Question 29

Causes of GH deficiency?

Answer 29

congenital (genetic mutations, empty sella syndrome) acquired (damage to pituitary)

Question 30

Presentation of GH deficiency?

Answer 30

neonates: micropenis hypoglycaemia severe jaundice older children: poor growth short stature slow development of movement and strength delayed puberty

Question 31

Investigations for GH deficiency?

Answer 31

GH stimulation test test for other associated hormone deficiency (thyroid, adrenal) MRI brain genetic testing (Turner, Prader-Willi) X-ray of wrist

Question 32

Mx of GH deficiency?

Answer 32

daily SC injections of GH management of other associated conditions monitoring of height and development

Question 33

Types of hypothyroidism?

Answer 33

congenital (usually picked up on heelprick test) acquired

Question 34

Presentation of congenital hypothyroidism?

Answer 34

usually picked up on heelprick test prolonged neonatal jaundice poor feeding constipation incr. sleeping red. activity delayed development and growth

Question 35

Presentation of acquired hypothyroidism?

Answer 35

fatigue and low energy poor growth weight gain poor school performance constipation dry skin hair loss

Question 36

Most common cause of acquired hypothyroidism?

Answer 36

Hashimoto's thyroiditis

Question 37

Antibodies in Hashimoto's thryoiditis?

Answer 37

anti-TPO antibodies anti-Tg antibodies

Question 38

Associated diseases with Hashimoto's thyroiditis?

Answer 38

T1DM coeliac disease

Question 39

Investigations for hypothyroidism?

Answer 39

referral paediatric endocrinologist TFTs thyroid antibodies screen for other autoimmune diseases

Question 40

Mx of hypothyroidism?

Answer 40

levothyroxine