Last reviewed 01/2018
Clinical features are often subtle with most newborn infants not diagnosed at birth (due to the presence of maternal thyroid hormones which crossed the placenta) (1).
Presenting features include:
- coarse facies, with macroglossia
- umbilical hernia
- cold or mottled skin
- hoarse cry
- prolonged jaundice
- poor feeding
- presence of a palpable goitre suggests a goitrogen aetiology
- the posterior fontanelle remains open, and closure of the anterior fontanelle is delayed
- the infant may be anaemic
- if untreated mental retardation may develop (1)
An increased risk of congenital malformations are seen to be associated with congenital hypothyroidism e.g. - a study of 1420 infants with congenital hypothyroidism revealed that 8.4% had extra thyroidal congenital malformations of which majority were cardiac malformations (1).