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Prevalence, Spectrum, and Management of Thyroid Dysfunction in Children with Down Syndrome: A Retrospective Study

Youssef Ali Alqahtani1, Ayed A Shati1, Ayoub Ali Alshaikh2

  • 1Department of Child Health, College of Medicine, King Khalid University, Abha 62529, Saudi Arabia.

Children (Basel, Switzerland)
|January 28, 2026
PubMed

Insights

Thyroid dysfunction affects over half of children with Down syndrome (DS) in Saudi Arabia, with subclinical and autoimmune hypothyroidism being most common. Improved treatment management is crucial despite high screening rates.

Area of Science:

  • Pediatric Endocrinology
  • Genetics and Genetic Diseases
  • Public Health

Background:

  • Down syndrome (DS) is linked to a high incidence of thyroid dysfunction.
  • International guidelines advocate for regular screening in DS patients.
  • This study investigates thyroid dysfunction in Saudi Arabian children with DS.

Purpose of the Study:

  • To determine the prevalence and spectrum of thyroid dysfunction in children with Down syndrome.
  • To evaluate the management outcomes of thyroid dysfunction in this population.
  • To identify risk factors and symptom burden associated with thyroid dysfunction in DS.

Main Methods:

  • Retrospective cross-sectional study of 106 children with DS.
  • Data collected from medical records at two Saudi healthcare centers.
  • Analysis included demographics, thyroid function, autoimmune status, treatment, and follow-up.

Main Results:

  • Thyroid dysfunction prevalence was 52.8% in children with DS.
  • Subclinical hypothyroidism (46.4%) and autoimmune hypothyroidism (30.4%) were most common.
  • A family history of thyroid disease was a significant risk factor (aOR=4.57).

Conclusions:

  • Thyroid dysfunction is highly prevalent in Southern Saudi children with DS.
  • Subclinical and autoimmune hypothyroidism are the predominant types.
  • Despite good screening adherence, treatment optimization and long-term management require improvement.

Keywords:
Saudi Arabiadown syndromehypothyroidismpediatricsscreening adherencesubclinical hypothyroidismthyroid dysfunction

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