Paediatric endocrinology

Question 1

What are children treated for DKA at a high risk of developing ?

Answer 1

• Cerebral oedema

Question 2

Why does cerebral oedema occur when treating DKA

Answer 2

• Dehydration and hyperglycaemia causes water to move from the intracellular space in the brain to the extracellular space
• Rapid correction of dehydration and hyperglycaemia causes a rapid shoift in the opposite way in the brain cells
• The brain swells and becomes oedematous

Question 3

How is cerebral oedema managed >

Answer 3

• Slow IV fluids
• IV mannitol
• IV hypertonic saline

Question 4

what causes congenital adrenal hyperlasia and what does it result in ?

Answer 4

• Autosommal recessive condition causing a deficiency of 21-hydroxylase enzyme.
• This causes UNDERPRODUCTION of cortisol and aldosterone and OVERPRODUCTION of adrogens

Question 5

why does congenital adrenal hyperplasia result in reduced cortisol and aldosterone but increased androgens ?

Answer 5

• 21-hydroxylase is an enzyme required to convert progesterone to cortisol and aldosterone. Without it = no conversion
• However, progesterone can be converted to testosterone without this enzyme.

Question 6

How do severe cases of CAH present ?

Answer 6

• Females : ‘ambiguous genitalia with enlarged clitorus.
• Hyponatraemia, hypercalaemia and hypoglycaemia shortly after birth

Question 7

How do women with CAH present in less severe cases

Answer 7

• Tall for their age
• Facial hair
• Absent periods
• Deep voice
• Early puberty

Question 8

How do men with CAH present in less severe cases

Answer 8

• Tall for their age
• Deep voice
• Large penis
• Small testicles
• Early puberty

Question 9

How might GH deficiency present at birth or in neonates ?

Answer 9

Micropenis (in males)
Hypoglycaemia
Severe jaundice

Question 10

How will GH deficiency present in infants and children ?

Answer 10

• Poor growth, usually stopping or severely slowing from age 2-3
• Short stature
• Slow development of movement and strength
• Delayed puberty

Question 11

How is GH deficiency investigated ?

Answer 11

• GH stimulation test
• Medicatiomns that should stimulate GH release are given (glucagon, insulin, arginine and clonidine)
• If deficiency is present, there will be a poor response to stimulation

Question 12

How is GH deficiency managed ?

Answer 12

• Daisy SC injections of GH (somatropin)

Question 13

How will congenital hypothyroidism present in a newborn if not picked up on the blood spot screening ?

Answer 13

• Prolonged neonatal jaundice
• Poor feeding
• Constipation
• Increased sleeping
• Reduced activity
• Slow growth and development

Question 14

What is the most common cause of acquired hypothyroidism in children ?

Answer 14

• Autoimmune thyroiditis (Hashimoto’s)