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. 2025 Apr;46(4):364-371.
doi: 10.15537/smj.2025.46.4.20241117.

Prevalence and impact of endocrinopathies on growth in pediatric down syndrome patients: A retrospective analysis

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Prevalence and impact of endocrinopathies on growth in pediatric down syndrome patients: A retrospective analysis

Ahmed M Al Qassimi et al. Saudi Med J. 2025 Apr.

Abstract

Objectives: To assess the prevalence of endocrinopathies and their impact on growth among pediatric patients with Down syndrome (DS) in the Eastern Region of Saudi Arabia.

Methods: This study utilized a retrospective cross-sectional design and was conducted at the Qatif Central Hospital between January 2015 and December 2022. Data from 358 pediatric patients with DS (aged 0-14 years), including clinical, anthropometric, and laboratory findings, were analyzed. The prevalence rates of endocrinopathies, their association with comorbidities, and their impact on growth metrics were evaluated using statistical methods.

Results: Hypothyroidism was the most prevalent endocrinopathy (18.9%), followed by vitamin D deficiency (15.4%). Significant associations were observed between hypothyroidism and obesity (p=0.009), as well as vitamin D deficiency (p<0.001). Growth impairment was common, with notable deviations in height and weight Z-scores among patients with hypothyroidism, vitamin D deficiency, and obstructive sleep apnea (p<0.05).

Conclusion: Endocrinopathies are common among children with DS and substantially affect growth and health outcomes. Early screening and multidisciplinary management strategies are essential to improve patient care.

Keywords: Down syndrome; Saudi Arabia; endocrinopathies; growth impairment; hypothyroidism; vitamin D deficiency.

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