Paediatric endocrinology and metabolic disease

Question 1

what are your differentials for short stature in a child?

Answer 1

congenital/genetic cause e.g. Turner's, familial
true GH deficiency
malnutrition/chronic illness
hypothyroidism
abnormalities with androgen/oestrogen levels
iatrogenic cause like excess GC use
psychosocial cause
skeletal disorder

Question 2

define precocious puberty?

Answer 2

puberty that begins before 8yrs for females and 6 yrs for boys

Question 3

what are some clinical features at birth which may make you suspicious of CAH?

Answer 3

Clinical features: genital ambiguity at birth, look for pigmented genitalia, signs of adrenal crisis such as haemodynamic instability, vomiting, metabolic acidosis, hypoglycaemia, metabolic derangement including hyponatremia and hyperkalemia

Question 4

what inheritance pattern is CAH?

Answer 4

autosomal recessive

Question 5

what might you think if you saw a boy with precocious puberty?

Answer 5

think organic pathology.

Think intracranial tumour causing bilateral testicular enlargement, gonadal tumour (unilateral testicular enlargement) or CAH (small testes)

Question 6

what is the most common cause of delayed puberty in boys?

Answer 6

constitutional pubertal and growth delay- often familial

Question 7

at what BGL in a type 1 diabetic do we start treating for hypoglycaemia?

Answer 7

less than 4mmol/L

Question 8

what are some symptoms of hypoglycaemia?

Answer 8

shakiness
confusion
tremor
paleness
sweating 
weakness
headache

Question 9

describe the management of mild-moderate hypoglycaemia?

Answer 9

1. give 10-15g of quick acting carbohydrates
2. give 10-15g of low GI carbohydrates

reassess BSL in 20 mins

Question 10

what are some symptoms of severe hypoglycaemia? and what do you do if you suspect this?

Answer 10

unconsciousness
seizures
unable to eat and drink

Call OOO for ambulance

Place child in recovery position. Do not feed anything orally. Take BSL if possible.

Administer glucagon IM (0.5ml to 1ml)

Question 11

what is a normal ketone range in the body?

Answer 11

0-0.6mmol/l

Question 12

what do you advise a parent whose child has >1mmol/l of ketones and BSL > 15mmol/L and is on injectable insulin?

Answer 12

give 10% of total daily insulin dose using rapid acting insulin

recheck ketones in 2hrs

any signs of vomiting/drowsiness etc or if the child is obviously clinically unwell seek urgent medical attention

Question 13

what are the disadvantages of insulin pump therapy?

Answer 13

1. higher risk of DKA due to only rapid acting insulin being administered without basal dosing
2. increased risk of infection and skin irritation
3. requires more intensive BGL monitoring
4. requires lots of education on how to use the pump
5. expensive

Question 14

generally, what does an ‘inborn error of metabolism’ disorder refer to?

Answer 14

this is a large group of inheritable conditions in which there is a mutation/defect in a protein/enzyme which plays a role in a metabolic pathway.

Question 15

what is the role of calcium carbonate in kidney failure?

Answer 15

Injury to the kidney causes decreased phosphate excretion, elevating phosphate levels in the blood, and subsequently can cause hypocalcaemia.

Calcium carbonate binds phosphate and hence is aka as a phosphate binder

Question 16

what are the possible causes of hypocalcaemia in a child?

Answer 16

neonatal causes e.g. DiGeorge syndrome, IUGR, prematurity

vitamin D deficiency

hyperparathyroidism (primary/secondary causes)
e.g. AKI and tumour lysis syndrome causing hyperphosphataemia

hypoalbuminemia

pancreatitis

medication

Question 17

when do we use the mini-dose glucagon protocol?

Answer 17

used for:
Children who are hypoglycaemic (BGL < 4.0 mmol/LO) with inter current illness (vomiting) and cannot tolerate food or fluids (food refusal or feeling sick)