Endocrine Abstracts

Introduction: Endocrine complications are common in patients with thalassaemia major. Currently, there is no literature studying the prevalence of endocrine abnormalities within a British cohort of children with transfusion-dependent thalassaemia. Existing literature is mostly based on Greek and other Mediterranean thalassaemia populations, and variations in local management guidelines may result in different clinical outcomes. This study aimed to audit recommended investigations (2016 UKTS recommendations) and evaluate growth and endocrine function in a local cohort of paediatric transfusion-dependent patients.

Methods: Growth and endocrine function of 38 patients with transfusion-dependent thalassemia aged 1–17 under Barts Health trust were evaluated. The number and proportion of patients who had each endocrine assessment completed were calculated. Data was retrieved from electronic patient records.

Results: 7 (19.4%) patients displayed short stature (height SDS < −2). Two out of 8 patients with parental heights documented had significantly shorter heights compared to their mid-parental heights (height SDS – mid-parental height SDS < −2). Only 8 (21.1%) patients had sitting heights documented, however, 7 out of these 8 patients (87.5%) displayed disproportionate truncal shortening (leg length SDS – sitting height SDS > 1). Of those eligible for annual endocrine reviews, 11 (55%) were reviewed in joint haematology–endocrinology clinics in the past year, and 2 (10%) were seen in endocrine clinics. 17 (85%) patients received blood tests to assess endocrine function. Six (23.1%) patients had vitamin D deficiency. Other endocrine abnormalities were uncommon in this patient cohort: 1 patient was diagnosed with impaired glucose tolerance, and 1 patient had self-limiting delayed puberty.

Conclusion: Results of this study suggest that endocrinopathy is rare in this paediatric patient cohort which has access to regular transfusions and chelation. Nevertheless, disproportionate truncal shortening and short stature seem common, which may be related to target height potential. Comprehensive monitoring of growth including parental and sitting height measurements are warranted to identify patients in need of further management. Further research on identifying risk factors contributing to reduced truncal height and its interventions may be beneficial.