clinical features

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
  • hypotonia
  • hypothermia
  • prolonged jaundice
  • poor feeding
  • constipation
  • 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).