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Congenital hypothyroidism

Hypothyreosis congenita · Vrozená hypotyreóza

What it is

A baby born with too little thyroid hormone, usually from a missing or misplaced gland; about 1 in 2,000–3,000 births. Untreated it causes intellectual disability — heel-prick screening prevents it.

Symptoms & signs

  • Usually no signs at birth
  • prolonged jaundice
  • sleepy, feeds poorly
  • constipation
  • large tongue, hoarse cry, umbilical hernia
  • large soft spot on the head

🚩 Get help if…

  • see a doctor soon Abnormal heel-prick screening result — follow up the same day
  • see a doctor soon Jaundice lasting over 2 weeks
  • see a doctor soon Very sleepy, poor feeding, constipation or a large tongue
  • see a doctor soon Missed doses or slow growth or development on treatment

Where it strikes

Medical treatment

  • Heel-prick TSH screening in the first week trials support
  • levothyroxine started within two weeks, 10–15 µg/kg daily — most then reach normal intelligence
  • frequent blood tests in the first years
  • retest at 2–3 years when the cause is unclear

Natural & lifestyle

  • Enough iodine in pregnancy — prevents iodine-deficiency cretinism worldwide trials support
  • give the crushed tablet the same way every day, away from soya, iron and calcium

Emerging & experimental

  • Genetic diagnosis of hormone-synthesis defects
  • liquid levothyroxine

Alternative, off-label & anecdotal

Approaches used outside the guidelines, with what their supporters report and what testing has found so far.

  • Desiccated animal thyroid in babies — unreliable dose; levothyroxine is the standard not confirmed in trials
  • Kelp and seaweed iodine — excess iodine can suppress a newborn's thyroid anecdotal / traditional

ICD codes