Congenital hypothyroidism: a clinical update of long-term outcome in young adults

Eur J Endocrinol. 2015 Feb;172(2):R67-77. doi: 10.1530/EJE-14-0777. Epub 2014 Sep 15.

Abstract

Congenital hypothyroidism (CH) is the most common congenital endocrine disorder. The early treatment of CH patients has successfully improved the prognosis and management of this disorder. Optimal treatment and management throughout the patient's life, beginning in the neonatal period, are required to ensure long-term health. Affected patients should be offered assessments of associated medical conditions and provided with accurate information about their condition throughout their lives, but particularly during the transition from pediatric to adult services. This review provides a summary of current knowledge about the long-term outcomes of these patients and appropriate management into early adulthood. We carried out a systematic search of the Medline database to identify relevant articles. Despite major improvements in prognosis, the impact of CH is clearly not uniform, and management should take into account a broader range of relevant indicators, including CH severity, associated comorbid conditions and the adequacy of treatment during childhood and adulthood. The early diagnosis and management of associated medical conditions, and better educational strategies to improve compliance with treatment, should improve the long-term prognosis. Further studies are required to explore changes with aging.

Publication types

  • Review

MeSH terms

  • Congenital Hypothyroidism / blood*
  • Congenital Hypothyroidism / diagnosis*
  • Congenital Hypothyroidism / genetics
  • Humans
  • Infant, Newborn
  • Neonatal Screening / methods
  • Neonatal Screening / trends*
  • Time Factors
  • Treatment Outcome
  • Young Adult