Thyroid Disorders in Subjects with Down Syndrome: An Update

Nermine H Amr1

  • 1Department of Paediatrics Ain Shams University, Cairo, Egypt. nerminehamr@hotmail.com.

Insights

Down syndrome (DS) is linked to a higher risk of thyroid issues, including hypothyroidism and hyperthyroidism. This review covers thyroid disorder characteristics, screening, and management in individuals with Down syndrome.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Down syndrome (DS) is the most frequent chromosomal disorder in live-born infants.
  • Individuals with DS have a significantly increased risk of endocrine abnormalities, especially affecting the thyroid gland.

Purpose of the Study:

  • To review the various presentations of thyroid abnormalities in patients with Down syndrome.
  • To provide recommendations for screening and management of thyroid dysfunction in DS.

Main Methods:

  • Literature review focusing on thyroid disorders in Down syndrome.
  • Synthesis of data on clinical characteristics, screening protocols, and treatment strategies.

Main Results:

  • The spectrum of thyroid dysfunction in DS includes congenital, subclinical, and acquired hypothyroidism (autoimmune and non-autoimmune), as well as hyperthyroidism.
  • Early screening and consistent monitoring are crucial for managing thyroid abnormalities in DS.

Conclusions:

  • Thyroid dysfunction is a common comorbidity in Down syndrome, requiring vigilant surveillance.
  • Adherence to recommended screening and management guidelines can improve outcomes for individuals with DS.

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