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Classification of congenital hypothyroidism

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Congenital hypothyroidism can be divided into:

  • permanent congenital hypothyroidism - there is continuous deficiency of thyroid hormone and requires treatment throughout life, can be further divided into

    • primary hypothyroidism - results from thyroid gland development (dysgenesis) or a disorder of thyroid hormone biosynthesis (dyshormonogenesis)
    • secondary or central hypothyroidism - deficiency of thyroid stimulating hormone (TSH)

  • peripheral hypothyroidism - due to defects of thyroid hormone transport, metabolism, or action

  • syndromic hypothyroidism - congenital hypothyroidism is associated with abnormalities of other organ systems

  • transient congenital hypothyroidism - temporary deficiency which recovers during the first few months or years of life (1)

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