Congenital hypothyroidism

From usmlepedia
Jump to: navigation, search

Etiology

  • MCC: Thyroid dysgenesis (aplasia, hypoplasia, ectopic)
  • Maternal Iodine def.
  • Defects in synthesis

Presentation

  • Asymptomatic (hence screening)
  • Lethargy
  • Hoarse cry
  • Poor feeding
  • Constipation
  • Jaundice
  • Dry skin
  • Large fontanelles

Diagnosis

  • TSH
  • T4

Treatment

Levothyroxine