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Congenital Hypothyroidism in Children - A Cross-Sectional Study in a Tertiary Centre in Malaysia
Azriyanti Anuar Zaini1, Yu Feng Tung1, Nor Faizal Ahmad Bahuri2
1Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Insights
Congenital hypothyroidism (CHT) in Malaysia is often caused by thyroid dyshormonogenesis (TDH). Differentiating TDH, thyroid dysgenesis (TD), and transient hypothyroidism (TH) is challenging, and reassessing TH cases may prevent unnecessary treatment.
Area of Science:
- Pediatric Endocrinology
- Neonatal Screening
- Thyroid Disorders
Background:
- Congenital hypothyroidism (CHT) stems from thyroid dysgenesis (TD), dyshormonogenesis (TDH), or transient hypothyroidism (TH).
- Understanding the prevalence and differentiating causes of CHT is crucial for appropriate management.
Purpose of the Study:
- To investigate the etiological distribution of congenital hypothyroidism in a Malaysian population.
- To analyze clinical presentation and biochemical markers for differentiating TD, TDH, and TH.
- To evaluate the diagnostic challenges and treatment implications in Malaysia.
Main Methods:
- A 16-year retrospective cross-sectional study (2000-2016) of confirmed CHT cases.
- Inclusion of thyroid scans at age 3 and repeated thyroid function tests after medication withdrawal.
- Retrospective data collection on clinical presentation and biochemical markers.
Main Results:
- Forty children with CHT were studied; 60% were female.
- Thyroid dyshormonogenesis (TDH) was the most common diagnosis (42.5%), followed by thyroid dysgenesis (TD) (40%) and transient hypothyroidism (TH) (17.5%).
- Higher median cord TSH levels were observed in TD compared to TDH and TH; L-thyroxine doses did not differ significantly between groups.
Conclusions:
- Thyroid dyshormonogenesis (TDH) is highly prevalent in the studied Malaysian population.
- Differentiating TD, TDH, and TH presents a diagnostic challenge in Malaysia.
- Reassessment of transient hypothyroidism (TH) cases is recommended to avoid prolonged, unnecessary L-thyroxine treatment.
Introduction:
The causes of congenital hypothyroidism (CHT) are thyroid dysgenesis (TD), dyshormonogenesis (TDH) or transient hypothyroidism (TH).
Methodology:
This is a cross-sectional study looking at data over a period of 16 years (2000-2016). Confirmed cases had thyroid scan at the age of 3-years-old and repeated TFT (after 6 weeks off medications). Relevant data was collected retrospectively.
Results:
Forty (60% female) children with CHT were included in the study. Thirty (75%) children presented with high cord TSH. Nine (23%) presented after 2 weeks of life. Majority were diagnosed with TDH (42.5%) with TD and TH of 40% and 17.5% respectively. Median cord TSH of children with TD was significantly higher compared to TDH and TH (p=0.028 and p=0.001 respectively). L-thyroxine doses were not significantly different between TD, TDH and TH at diagnosis or at 3 years.
Conclusions:
TDH is highly prevalent in our population. TD may present after 2 weeks of life. One in five children treated for CHT had TH. Differentiating TD, TDH and TH before initiating treatment remains a challenge in Malaysia. This study provides clinicians practical information needed to understand the possible aetiologies from a patient's clinical presentation, biochemical markers and treatment regime. Reassessing TH cases may be warranted to prevent unnecessary treatment.
