Congenital hypothyroidism

Question 1

What is congenital hypothyroidism?

Answer 1

a reduced amount of thyroxine or none at all is produced from birth

Question 2

What is the most common cause of congenital hypothyroidism?

Answer 2

ageneis/dysgenesis of the thyroid gland which is usually sporadic

Question 3

How do babies with congenital hypothyroidism usually present on examination?

Answer 3

1. Considered ‘good’ as they sleep for long periods and decreased activity
2. Poor feeding
3. Constipation
4. Hypotonia

Question 4

How do babies with congenital hypothyroidism usually present on inspection?

Answer 4

1. Large fontanelles

2. Prolonged jaundice

Question 5

How is congenital hypothyroidism diagnosed?

Answer 5

1. New born screening programme

2. Shows increased TSH and decreased thyroxine levels

Question 6

How is congenital hypothyroidism managed?

Answer 6

Life long thyroxine is given

Question 7

What happens if congenital hypothyroidism is not treated within 4 weeks?

Answer 7

1. irreversible cognitive impairement
2. Short stature
3. Macroglossia - puffy face
4. Delayed physical / mental milestones