Endocrine Abstracts

JOINT769

Background: Growth disorders are highly prevalent among children with beta-thalassemia major, affecting both height and weight. Chronic anemia, iron overload, and endocrine dysfunctions contribute to growth retardation, significantly impacting quality of life. Despite advancements in transfusion and chelation therapies, growth impairment remains a major complication in this population.

Objectives: To evaluate the key factors influencing linear growth in children with beta-thalassemia major, focusing on age, sex, serum ferritin levels, GH-IGF1 axis, liver iron concentration, and transfusion status, and to assess real predictors of growth outcomes.

Methods: This review includes 30 studies published between 2000 and 2025, encompassing 2,500 children and adolescents with beta-thalassemia major. Data on height, weight, serum ferritin, GH-IGF1 axis, liver iron burden, and transfusion status were analyzed for their impact on growth outcomes.

Results: • Age and Sex: Growth retardation was observed across all age groups, with increased severity during adolescence due to delayed puberty. No significant differences were noted between sexes in growth outcomes.

• Serum Ferritin Levels: Elevated ferritin (>2500 ng/ml) was inversely correlated with height and weight. High ferritin levels were associated with endocrine dysfunctions, including growth hormone (GH) deficiency and hypogonadism.

• GH-IGF1 Axis: GH deficiency and low IGF-1 levels were prevalent among patients with growth failure. Studies highlighted the significant role of the GH-IGF1 axis in predicting growth outcomes.

• Liver Iron Concentration: High liver iron burden (>7 mg/g dry weight) was negatively associated with linear growth due to its impact on endocrine glands and hepatic function.

• Transfusion Status: Regular transfusions maintaining pre-transfusion hemoglobin >9 g/dl improved growth outcomes, while inadequate transfusion schedules exacerbated growth delays.

• Real Growth Prediction: A combined analysis of these factors across studies demonstrates that real growth prediction is when accounting for regular transfusions, early chelation therapy, controlled ferritin levels, and optimization of the GH-IGF1 axis. Patients with these managed parameters showed a significantly higher likelihood of achieving normal growth trajectories compared to those with poorly managed conditions.

Discussion and Conclusions: This review highlights the multifactorial nature of growth impairment in children with beta-thalassemia major. Factors such as iron overload, GH-IGF1 axis dysfunction, and inadequate transfusion schedules are key contributors. Effective management strategies, including early chelation, regular transfusions, and endocrine evaluation, are critical for optimizing growth outcomes. Future research should focus on longitudinal studies to refine growth prediction models and explore novel therapeutic approaches. Clinicians should adopt a multidisciplinary approach to address the diverse challenges associated with growth disorders in this population.