| Sumario: | Highlights: This study found a high prevalence of thyroid dysfunction among Saudi children with Down syndrome, mainly subclinical hypothyroidism followed by autoimmune hypothyroidism. Affected children had more clinical manifestations—especially metabolic, dermatological, and gastrointestinal—than those without thyroid dysfunction. A positive family history of thyroid disease was the strongest predictor, increasing the risk more than fourfold. Despite high screening coverage and generally guideline-consistent follow-up, therapeutic management was suboptimal: around three-fourths of levothyroxine-treated patients likely needed dose adjustment. These findings highlight the need for better dose optimization, standardized diagnostic algorithms, and stronger long-term surveillance in this high-risk group. What are the main findings? Thyroid dysfunction is very common, mainly subclinical and autoimmune hypothyroidism. Family history is the strongest risk factor, and most treated children need levothyroxine dose adjustment. What are the implications of the main findings? Treatment optimization is a must to improve disease management. Guidelines should emphasize stricter monitoring and standardized management to close the care gap. Background: Down syndrome (DS) is strongly associated with a high prevalence of thyroid dysfunction. International guidelines recommend regular screening to ensure early detection and management. This study aimed to determine the prevalence, spectrum, and management outcomes of thyroid dysfunction in children with DS in the Aseer region of Saudi Arabia. Methods: A retrospective cross-sectional study was conducted by reviewing the medical records of 106 children with DS from two major healthcare centers: Abha Maternity and Children Hospital and King Khalid University Medical Center. Data on demographics, clinical symptoms, thyroid function tests, autoimmune status, treatment, and follow-up patterns were collected and analyzed. Results: The prevalence of thyroid dysfunction was 52.8%. Subclinical hypothyroidism was the most common disorder (46.4%), followed by autoimmune hypothyroidism (30.4%). Patients with thyroid dysfunction had a significantly higher symptom burden, particularly in metabolic, dermatological, and gastrointestinal domains (p < 0.01). A strong family history of thyroid disease was a significant risk factor (adjusted odds ratio (aOR) = 4.57, 95% CI: 1.89–11.6, p < 0.001). While adherence to screening and follow-up was high (78.0% and 82.1%, respectively), a critical gap was identified in treatment optimization, with 74.4% of patients treated potentially requiring levothyroxine dose adjustment. Conclusions: Thyroid dysfunction is highly prevalent in the Southern Saudi children with DS, with subclinical hypothyroidism and autoimmune hypothyroidism being the most common types. Despite good screening adherence, there is a substantial need for improved treatment titration and long-term management to optimize patient outcomes in this population.
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