Congenital Hypothyroidism in Children: A Cross-Sectional Study in a Tertiary Centre in Malaysia

Authors

DOI:

https://doi.org/10.15605/jafes.035.01.11

Keywords:

congenital hypothyroid, thyroid dysgenesis, thyroid dyshormonogenesis, transient hypothyroid, thyroxine, cord blood TSH

Abstract

*Visual Abstracts prepared by Dr. Carmen Carina Cabrera

Introduction. The causes of congenital hypothyroidism (CHT) are thyroid dysgenesis (TD), dyshormonogenesis (TDH)or transient (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.

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Author Biographies

Azriyanti Anuar Zaini, University of Malaya, Kuala Lumpur

Consultant Paediatrician

Consultant Paediatric Endocrinologist

Department of Paediatrics, Faculty of Medicine

Yu Feng Tung, University of Malaya, Kuala Lumpur

Department of Paediatrics, Faculty of Medicine

Nor Faizal Ahmad Bahuri, University of Malaya, Kuala Lumpur

Associate Professor

Consultant Paediatric Neurosurgery

Department of Surgery, Faculty of Medicine

 

Muhammad Yazid Jalaludin, University of Malaya, Kuala Lumpur

Department of Paediatrics, Faculty of Medicine

References

Chan S, Kilby MD. Thyroid hormone and central nervous system development. J Endocrinol. 2000;165(1):1-8. https://www.ncbi.nlm.nih.gov/pubmed/10750030. https://doi.org/10.1677/joe.0.1650001.

Henry G, Sobki SH, Othman JM. Screening for congenital hypothyroidism. Saudi Med J. 2002;23(5):529-35. https://www.ncbi.nlm.nih.gov/pubmed/12070574.

Buyukgebiz A. Newborn screening for congenital hypothyroidism. J Clin Res Pediatr Endocrinol. 2013;5(Suppl 1):8-12. https://www.ncbi.nlm.nih.gov/pubmed/23154158. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3608007. https://doi.org/10.4274/jcrpe.845.

Rastogi MV, LaFranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis, 2010. 5:17. https://www.ncbi.nlm.nih.gov/pubmed/20537182. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2903524. https://doi.org/10.1186/1750-1172-5-17.

Joseph R. Mass newborn screening in Singapore. Southeast Asian J Trop Med Public Health. 2003;34(Suppl 3):89-90. https://www.ncbi.nlm.nih.gov/pubmed/15906706.

Zarina AL, Rahman R, Bador KM, Ng SF, Wu LL. Audit of newborn screening programme for congenital hypothyroidism. Med J Malaysia. 2008;63(4):325-8. https://www.ncbi.nlm.nih.gov/pubmed/19385494.

Wong SLW, Jalaludin M, Anuar A, Samingan N, Harun F. Congenital hypothyroidism: An audit and study of different cord blood screening TSH values in a tertiary medical centre in Malaysia. Advances in Endocrinology. 2015;2015. https://doi.org/10.1155/2015/387684.

Kapoor S, Kapoor D, Kapoor VK Congenital hypothyroidism: Its profile in infancy. Thyroid Res Pract. 2013;10(3):47-55. https://doi.org/10.4103/0973-0354.110577.

Euge`ne D, Djemli A, Van Vliet G. Sexual dimorphism of thyroid function in newborns with congenital hypothyroidism. J Clin Endocrinol Metab. 2005;90(5):2696–700. https://www.ncbi.nlm.nih.gov/pubmed/15728201. https://doi.org/10.1210/jc.2004-2320.

Ordooei M, Rabiei A, Soleimanizad R, Fatemeh M. Prevalence of permanent congenital hypothyroidism in children in Yazd, Central Iran. Iran J Public Health, 2013;42(9):1016-20. http://ijph.tums.ac.ir.

Azriyanti AZ, Yazid MJ, Fatimah H, Thyroid gland phenotype in primary congenital hypothyroidism. Hormone Research. 2008;70(Suppl 3):58.

Rovet JF. Congenital hypothyroidism: Long-term outcome. Thyroid.1999;9(7):741-8. https://www.ncbi.nlm.nih.gov/pubmed/10447023. https://doi.org/10.1089/thy.1999.9.741.

Albert BB, Heather N, Derraik JG, et al., Neurodevelopmental and body composition outcomes in children with congenital hypothyroidism treated with high-dose initial replacement and close monitoring.

J Clin Endocrinol Metab. 2013;98(9):3663-70. https://www.ncbi.nlm.nih.gov/pubmed/23861458. https://doi.org/10.1210/jc.2013-1903.

Harun F, Ch'ng SL. Congenital hypothyroidism in a developing country. Proceedings of Clinical Thyroidology Meeting. Innsbruck, Austria; 1992.

American Academy of Pediatrics, Rose SR, Section on Endocrinology and Committee on Genertics, et al. Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics. 2006;117(6):2290-303. https://www.ncbi.nlm.nih.gov/pubmed/16740880. https://doi.org/10.1542/peds.2006-0915.

American Academy of Pediatrics AAP Section on Endocrinology and Committee on Genetics, and American Thyroid Association Committee on Public Health: Newborn screening for congenital hypothyroidism: Recommended guidelines. Pediatrics. 1993;91(6):1203-9. https://www.ncbi.nlm.nih.gov/pubmed/8502532.

Bernal J. Thyroid hormones in brain development and function.: South Dartmouth (MA): MDText.com, Inc; Updated 2015. https://www.ncbi.nlm.nih.gov/books/NBK285549/.

Dunn JT. Iodine supplementation and the prevention of cretinism. Ann N Y Acad Sci. 1993;678:158-68. https://www.ncbi.nlm.nih.gov/pubmed/8494259. https://doi.org/10.1111/j.17496632.1993.tb26119.x.

Eugène D, Djemli A, Van Vliet G. Sexual dimorphism of thyroid function in newborns with congenital hypothyroidism. J Clin Endocrinol Metab, 2005;90(5):2696-700. https://www.ncbi.nlm.nih.gov/pubmed/15728201. https://doi.org/10.1210/jc.2004-2320.

Hofman P. Insights into the diagnosis and management of congenital hypothyroidism. Int J Pediatr Endocrinol. 2015;2015(Suppl 1):O18. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4428806. https://doi.org/10.1186/1687-9856-2015-S1-O18.

Rosenthal M, Addison GM, Price DA. Congenital hypothyroidism: Increased incidence in Asian families. Arch Dis Child. 1988;63(7):790-3. https://www.ncbi.nlm.nih.gov/pubmed/3415295. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1779081. https://doi.org/10.1136/adc.63.7.790.

Grant D, Smith I. Survey of neonatal screening for primary hypothyroidism in England, Wales, and Northern Ireland 1982-4. Br Med J (Clin Res Ed). 1988;296(6633):1355-8. https://www.ncbi.nlm.nih.gov/pubmed/3134984. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2545827. https://doi.org/10.1136/bmj.296.6633.1355.

Albert BB, Cutfield WS, Webster D, et al. Etiology of increasing incidence of congenital hypothyroidism in New Zealand from 1993–2010. J Clin Endocrinol Metab. 2012;97(9):3155-60. https://www.ncbi.nlm.nih.gov/pubmed/22723332. https://doi.org/10.1210/jc.2012-1562.

Current population estimates, Malaysia 2018-2019. Department of Statistics, Official Portal. Available at https://www.dosm.gov.my/v1/index.php?r=column/cthemeByCat&cat=155&bul_id =aWJZRkJ4UEdKcUZpT2tVT090Snpydz09&menu_id=L0pheU43NWJwRWVSZklWdzQ4TlhUUT09.

Lee CC, Harun F, Jalaludin MY, Heh CH, Othman R, Junit SM. Prevalence of c. 2268dup and detection of two novel alterations, c.670_672del and c. 1186C> T, in the TPO gene in a cohort of Malaysian–Chinese with thyroid dyshormonogenesis. BMJ Open. 2015;5(1):p. e006121. https://www.ncbi.nlm.nih.gov/pubmed/25564141. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4289740. https://doi.org/10.1136/bmjopen-2014-006121.

Lee CC, Harun F, Jalaudin MY, Lin CY, Ng KL, Junit SM. Functional analyses of c.2268dup in thyroid peroxidase gene associated with goitrous congenital hypothyroidism. Biomed Res Int. 2014;2014:Article ID 370538. https://doi.org/10.1155/2014/370538.

Waller DK, Anderson JL, Lorey F, Cunningham GC. Risk factors for congenital hypothyroidism: An investigation of infant's birth weight, ethnicity, and gender in California, 1990–1998. Teratology. 2000;62(1):36-41. https://www.ncbi.nlm.nih.gov/pubmed/10861631. https://doi.org/10.1002/1096-9926(200007)62:1<36::AID-TERA8>3.0.CO;2-W.

Parks JS, Lin M, Grosse SG, et al. The impact of transient hypothyroidism on the increasing rate of congenital hypothyroidism in the United States. Pediatrics. 2010;125(Suppl 2): S54-63. https://www.ncbi.nlm.nih.gov/pubmed/20435718. https://doi.org/10.1542/peds.2009-1975F.

Selamat R, Mohamud WN, Zainuddin AA, Rahim NS, Ghaffar SA, Aris T. Iodine deficiency status and iodised salt consumption in Malaysia: Findings from a national iodine deficiency disorders survey. Asia Pac J Clin Nutrition. 2010;19(4):578-85. PMID: 21147721.

Lim KK, Chan YY, Teh CH, et al. Iodine status among pregnant women in rural Sabah, Malaysia. Asia Pac J Clin Nutr. 2017;26(5):861-6. https://www.ncbi.nlm.nih.gov/pubmed/28802296. https://doi.org/10.6133/apjcn.092016.06.

Report of household income and basic amenities survey 2016. Department of Statistics Malaysia, Official Portal. Available at https://www.dosm.gov.my/v1/index.phpr=column/cthemeByCat&cat=120&bul_id=RUZ5REwveU1ra1hGL21JWVlPRmU2Zz09&menu_id=amVoWU54UTl0a21NWmdhMjFMMWcyZz09

Schoelwer MJ, Tu W, Zhou J, Eugster EA. Targeted levothyroxine therapy for treatment of congenital hypothyroidism. Endocr Pract. 2017;23(9):1067-71. https://www.ncbi.nlm.nih.gov/pubmed/28683242. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808429. https://doi.org/10.4158/EP171881.OR.

Mathai S, Cufield WS, Gunn AJ, et al. A novel therapeutic paradigm to treat congenital hypothyroidism. Clin Endocrinol (Oxf). 2008;69(1):142-7. https://www.ncbi.nlm.nih.gov/pubmed/18598275. https://doi.org/10.1111/j.1365-2265.2008.03172.x.

Léger J, Olivieri A, Donaldson M, et al. European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab. 2014;99(2):363-84. https://www.ncbi.nlm.nih.gov/pubmed/24446653. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4207909. https://doi.org/10.1210/jc.2013-1891.

Published

2020-04-21

How to Cite

Anuar Zaini, A., Tung, Y. F., Bahuri, N. F. A., & Jalaludin, M. Y. (2020). Congenital Hypothyroidism in Children: A Cross-Sectional Study in a Tertiary Centre in Malaysia. Journal of the ASEAN Federation of Endocrine Societies, 35(1), 62–67. https://doi.org/10.15605/jafes.035.01.11

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