Hypothyroidism

Question 1

What are the types of causes of hypothyroidism in a child?

Answer 1

Acquired and Congenital

Question 2

What are the acquired causes of hypothyroidism in children?

Answer 2

Autoimmune

Question 3

What are the congenital causes of hypothyroidism in children?

Answer 3

1. Athyrosis
2. Maldescent
3. Dyshormonogenesis
4. Iodine deficiency
5. Due to TSH deficiency (in isolation, which is rare, usually part of panhypopituitarism)

Question 4

What is the commonest cause of congenital hypothyroidism?

Answer 4

Iodine deficiency

Question 5

In whom are children with dyshormonogenesis more common?

Answer 5

Consanguineous couples

Question 6

What are the S&S of congenital hypothyroidism in a child?

Answer 6

1. Feeding problems/failure to thrive
2. Prolonged jaundice
3. Constipation
4. Mottled skin
5. Cold peripheries
6. Coarse facial features
7. Macroglossia
8. Umbilical hernia
9. Hoarse cry
10. (occasionally goitre)

Question 7

What are the S&S of acquired hypothyroidism in a child?

Answer 7

1. Sx as with adults
Child specific Sx:
2. Short stature
3. Delayed puberty
4. SUFE
5. Pale puffy eyes with loss of eyebrows
6. Learning difficulties

Question 8

How is congenital hypothyroidism Dx in the UK?

Answer 8

Routine neonatal screening - Guthrie test

Question 9

When is the Guthrie test performed?

Answer 9

Around 5 days old

Question 10

What does the Guthrie test test for?

Answer 10

1. Sickle cell disease
2. CF
3. Congenital hypothyroidism
4. PKU
5. Maple syrup urine disease
6. Homcystinuria
7. IVA
8. GA1
9. MCADD

Question 11

How is congenital hypothyroidism treated?

Answer 11

Thyroxine oral replacement lifelong, usually beginning before 3wks of age to prevent learning difficulties