Congenital Hypothyroidism

Background

  • Lack of thyroid hormones from birth
  • Can result in irreversible neurodevelopmental and growth problems if not recognised early
  • ~1 in 4000 births; more common in girls (2:1)
  • Most commonly due to thyroid gland defects (75%- usually spontaneous/idiopathic) e.g. missing, small or poorly developed gland
    • Other causes include dysfunctional thyroid hormone production (10% and usually inherited); hypothalamic/pituitary dysfunction (5%)
    • Transient hypothyroidism is most often caused by maternal drugs or antibodies e.g. in maternal hashimoto’s or carbimazole

Presentation

  • Similarly to adults-
    • lack of energy e.g. sleepy/floppy; poor appetite (lack of feeds); skin/hair changes (dry); bradycardia, hyporeflexia, constipation etc

Diagnosis

  • Often diagnosed by the Guthrie Heel Prick test (along with phenylketonuria)

Management

  • Depends on cause but thyroid hormone replacement

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