Permanent congenital hypothyroidism with diffuse goitre

**Definition:** A condition caused by a partial or complete loss of thyroid function due to failure of the thyroid to correctly develop during the antenatal period. This condition is characterised by a swollen, smooth thyroid gland, and in infants by a dull look, puffy face, and thick tongue that sticks out. This condition may also present with choking episodes, constipation, dry brittle hair, jaundice, lack of muscle tone, low hairline, poor feeding, short height, sleepiness, or sluggishness.

**Exclusions:** - transitory congenital goitre with normal function