Sporadic goitrous cretinism

Calif Med. 1959 Jan;90(1):32-6.


Five to 10 per cent of cretinism in the United States is due to some congenital enzymatic defect in thyroid hormone synthesis. The clinical signs of hypothyroidism appear in early infancy. Differentiation from athyreotic cretinism is important because the metabolic defect tends to be familial and its presence in the patient's infant relatives should be diagnosed as early as possible. The differentiation is easily made if a goiter is discernible, but if it is not, radioiodine uptake should be measured, for in this condition the uptake is normal or greater. Thyroid replacement is the treatment in either the athyreotic state or the metabolic deficiency. The three known defects in thyroid hormone synthesis are (1) failure to oxidize iodine to elemental iodine resulting in failure of all subsequent processes; (2) failure to deiodinate free iodotyrosine, and (3) failure to form iodothyronine although the previous steps are accomplished.

MeSH terms

  • Congenital Hypothyroidism*
  • Goiter*
  • Humans
  • Hypothyroidism*
  • Infant
  • Iodides*
  • Iodine Radioisotopes*
  • Iodine*
  • Monoiodotyrosine*
  • Syndrome*
  • Thyroid Hormones*


  • Iodides
  • Iodine Radioisotopes
  • Thyroid Hormones
  • Iodine
  • Monoiodotyrosine