Thyroid dysfunction in children with Down syndrome: a literature review

Area of Science:

• Pediatrics
• Endocrinology
• Genetics

Background:

• Children with Down syndrome (DS) exhibit a higher incidence of thyroid dysfunction compared to the general pediatric population.
• Thyroid disorders in DS include congenital hypothyroidism, autoimmune thyroid disease, subclinical hypothyroidism, and hyperthyroidism.

Purpose of the Study:

• To provide an evidence-based review of thyroid disease in children with Down syndrome.
• To compare current international professional guidelines for managing thyroid disease in this population.

Main Methods:

• A comprehensive literature search was performed using Medline and PubMed.
• Keywords included "Down syndrome" combined with various thyroid disease terms.
• Guidelines from five expert groups across Ireland, the UK, USA, Australia, and Canada were reviewed.

Main Results:

• Eighty-nine articles were reviewed, alongside five sets of clinical guidelines.
• Most guidelines recommend similar frequencies for thyroid function tests; only Ireland and the UK suggest less than annual testing.
• Specific guidelines vary on thyroid antibody screening frequency, and none address optimal management of subclinical hypothyroidism.

Conclusions:

• Current guidelines for thyroid disease in children with Down syndrome are largely consistent regarding screening frequency.
• There is a significant need for more evidence, particularly from prospective randomized controlled trials, to determine the optimal management strategy for subclinical hypothyroidism in children with Down syndrome.