Paediatric endocrinology

Question 1

A 6yo girl is taken to the paediatrician as she is much shorter than the other children in her class.

What is your differential diagnosis for growth failure?

Answer 1

1. familial/genetic: growth follows predicted centiles
2. severe IUGR/prematurity: short from birth
3. constitutional delay: accentuated by delayed puberty, + delayed bone age
4. thyroid hormone/GH deficiency: falling off centiles, ++ delayed bone age, weight > height
5. nurtitional/chronic disease e.g. coeliac: falling off centiles, ++ delayed bone age, weight < height
6. psychological
7. syndromes e.g. Down, Turner, Noonan: dysmorphic features

Question 2

A 6yo girl is taken to the paediatrician as she is much shorter than the other children in her class.

What would you look for on examination? Which investigations would you request?

Answer 2

O/E

• plot height + weight on growth chart
• general system exam e.g. goitre? malnutrition? dysmorphic features?
• Tanner stage
• calculate MPH from parental heights
• assess growth velocity over at least 6 monthly intervals

Investigations

• karyotype esp. look for Turner’s
• serum IGF-1
• TFTs
• coeliac screen

Question 3

A mother brings her newborn for the heelprick test.

At what age should this be performed? Name exampled of the conditions being tested for.

Answer 3

Performed on day 5-8.

Tests for:

1. PKU
2. sickle cell disease
3. congenital hypothyroidism
4. CF
5. MCAD-deficiency
6. maple syrup urine disease
7. homocystinuria
8. glutaric aciduria type 1

Question 4

Which test is performed to detect CF in the newborn heelprick test?

Answer 4

Detects raised immunoreactive trypsinogen levels