Congenital hypothyroidism in children – a cross-sectional study in a tertiary centre in Malaysia
Document Type
Article
Publication Date
1-1-2020
Abstract
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. © ASEAN Federation of Endocrine Societies. All rights reserved.
Keywords
Congenital hypothyroid, Cord blood TSH, Thyroid dysgenesis, Thyroid dyshormonogenesis, Thyroxine, Transient hypothyroid
Publication Title
Journal of the ASEAN Federation of Endocrine Societies
Divisions
fac_med
Volume
35
Issue
1
Publisher
ASEAN Federation of Endocrine Societies (AFES)