MRCEM Notes

Congenital hypothyroidism

Congenital hypothyroidism affects around 1 in 4000 babies. If not diagnosed and treated within the first four weeks it causes irreversible cognitive impairment

Features
  • prolonged neonatal jaundice
  • delayed mental & physical milestones
  • short stature
  • puffy face, macroglossia
  • hypotonia

Children are screened at 5-7 days using the heel prick test
Full-size image