Congenital Hypothyroidism

Clin Perinatol. 2018 Mar;45(1):1-18. doi: 10.1016/j.clp.2017.10.004.


Congenital hypothyroidism is common and can cause severe neurodevelopmental morbidity. Prompt diagnosis and treatment are critical to optimizing long-term outcomes. Universal newborn screening is an important tool for detecting congenital hypothyroidism, but awareness of its limitations, repeated screening in high-risk infants, and a high index of clinical suspicion are needed to ensure that all affected infants are appropriately identified and treated. Careful evaluation will usually reveal the etiology of congenital hypothyroidism, which may inform treatment and prognosis. Early and adequate treatment with levothyroxine results in excellent neurodevelopmental outcomes for most patients with congenital hypothyroidism.

Keywords: Congenital hypothyroidism; Development; Dysgenesis; Dyshormonogenesis; Levothyroxine; Neonatal thyroid.

Publication types

  • Review

MeSH terms

  • Congenital Hypothyroidism / diagnosis*
  • Congenital Hypothyroidism / drug therapy
  • Congenital Hypothyroidism / etiology
  • Congenital Hypothyroidism / physiopathology
  • Deficiency Diseases / complications
  • Disease
  • Early Diagnosis
  • Early Medical Intervention
  • Hormone Replacement Therapy
  • Humans
  • Infant, Newborn
  • Iodine / deficiency
  • Neonatal Screening
  • Prognosis
  • Thyroid Dysgenesis / complications
  • Thyroid Gland / embryology*
  • Thyroxine / therapeutic use


  • Iodine
  • Thyroxine