Cretinism natural history, complications and prognosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

If left untreated, patients with cretinism may progress to develop mental retardation and neurological manifestations. Common complications of cretinism include growth retardation and cardiovascular problems. Prognosis is usually good with treatment with levothyroxine.

Natural History, Complications, and Prognosis

Natural History

  • The symptoms of cretinism usually develop in the first months after birth and start with symptoms such as jaundice, large fontanelles, and umbilical hernia.
  • If left untreated, patients with cretinism may progress to develop mental retardation and neurological manifestations like ataxia and poor motor coordination.[1]

Complications

Prognosis

  • Prognosis is generally excellent with the appropriate treatment with levothyroxine.[3]

References

  1. Büyükgebiz A (2003). "Congenital hypothyroidism clinical aspects and late consequences". Pediatr Endocrinol Rev. 1 Suppl 2: 185–90, discussion 190. PMID 16444157.
  2. Pearce EN, Lazarus JH, Moreno-Reyes R, Zimmermann MB (2016). "Consequences of iodine deficiency and excess in pregnant women: an overview of current knowns and unknowns". Am J Clin Nutr. 104 Suppl 3: 918S–23S. doi:10.3945/ajcn.115.110429. PMC 5004501. PMID 27534632.
  3. Rastogi MV, LaFranchi SH (2010). "Congenital hypothyroidism". Orphanet J Rare Dis. 5: 17. doi:10.1186/1750-1172-5-17. PMC 2903524. PMID 20537182.

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