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Prevalence of growth and endocrine disorders in Malaysian children with transfusion-dependent thalassaemia
Khian Aun Tan1, Su Han Lum1, Abqariyah Yahya2
1Department of Paediatrics, Faculty of Medicine, University Malaya, Kuala Lumpur, Malaysia.
Insights
Two-thirds of children with transfusion-dependent thalassaemia (TDT) experience endocrine dysfunction. Early screening is crucial, as conditions like thyroid dysfunction and hypoparathyroidism can be missed in younger children.
Area of Science:
- Pediatric Endocrinology
- Hematology
- Metabolic Disorders
Background:
- Iron overload from frequent blood transfusions is a significant complication in children with transfusion-dependent thalassaemia (TDT).
- Endocrine dysfunction is a common consequence of this iron overload in pediatric TDT patients.
- This study investigates the prevalence of endocrine issues in Malaysian children with TDT.
Purpose of the Study:
- To determine the prevalence of endocrine dysfunction in children with transfusion-dependent thalassaemia (TDT) in Malaysia.
- To identify specific endocrine disorders and their frequencies in this pediatric population.
- To inform screening protocols and management strategies for TDT patients.
Main Methods:
- Retrospective review of pediatric TDT patients receiving ≥ 8 blood transfusions annually.
- Exclusion of patients with stem cell transplantation, autoimmune diseases, or new TDT diagnoses.
- Application of standard diagnostic criteria for various endocrine dysfunctions.
Main Results:
- 65% of 82 TDT patients exhibited at least one endocrine dysfunction.
- Short stature (40.2%) was most prevalent, followed by pubertal disorders (14.6%) and hypoparathyroidism (12.3%).
- Thyroid dysfunction and hypoparathyroidism occurred in 9.1% of children under 10, indicating potential for early onset.
Conclusions:
- A significant majority (two-thirds) of children with TDT suffer from endocrine dysfunction.
- Routine endocrine screening should not be age-limited, as thyroid and parathyroid issues can affect younger children.
- Continuous monitoring and timely hormonal therapy are vital for managing TDT-related endocrine complications and preventing long-term adverse effects.
Introduction:
Endocrine dysfunction due to iron overload secondary to frequent blood transfusions is a common complication in children with transfusion-dependent thalassaemia (TDT). We ascertained the prevalence of endocrine dysfunction in children with TDT seen in a hospital setting in Malaysia.
Methods:
We reviewed all patients with TDT who had ≥ 8 blood transfusions per year. Patients who had a history of stem cell transplantation, concurrent autoimmune diseases or were newly diagnosed to have TDT were excluded. Standard diagnostic criteria were used in the diagnosis of various endocrine dysfunctions.
Results:
Of the 82 patients with TDT, 65% had at least one endocrine dysfunction. Short stature was the commonest (40.2%), followed by pubertal disorders (14.6%), hypoparathyroidism (12.3%), vitamin D deficiency (10.1%), hypocortisolism (7.3%), diabetes mellitus (5.2%) and overt hypothyroidism (4.9%). Subclinical hypothyroidism and pre-diabetes mellitus were seen in 13.4% and 8.6% of the patients, respectively. For children aged < 10 years, the prevalence of both thyroid dysfunction and hypoparathyroidism was 9.1%.
Conclusion:
Two-thirds of children with TDT experienced at least one endocrine dysfunction. Thyroid dysfunction and hypoparathyroidism may be missed if endocrine screening is only performed in children with TDT > 10 years of age. Close monitoring for endocrine dysfunction and hormonal therapy is essential to prevent long-term adverse outcomes.
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