Congenital Hypothyroidism: Incidence, Etiology and Laboratory Screening

Liong Boy Kurniawan

Abstract


Congenital hypothyroidism is a condition resulting from a deficiency of thyroid hormone in newborns. Congenital hypothyroidism has no specific signs and symptoms at birth. It may lead to severe mental retardation and growth, and developmental disorders. Therefore, it is essential to perform newborn laboratory screening tests for prompt diagnosis and treatment to minimize the sequels. Laboratory screening tests are performed by taking prick blood from the heel of newborn and testing either TSH or T4 or both of them. Currently, the congenital hypothyroidism screening is not mandatory in Indonesia, but some multicentered screening programs have been performed. In Indonesia, a TSH level above 20 µU/mL is used as a cutoff that needs a confirmatory test using serum samples to confirm congenital hypothyroidism diagnosis. Once the diagnosis is established, prompt treatment and laboratory monitoring are needed for a better outcome.


Keywords


Congenital hypothyroidism, laboratory, screening

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References:

Kostic I, Curcio F. Cause of Hypothyroidism, Hypothyroidism – Influences and Treatments, Dr. Drahomira Springer (Ed), InTech, 2012.

Rastogi MV, LaFranchi SH. Congenital Hypothyroidism. Orphanet Journal of Rare Diseases, 2010,5:17.

Nagasaki K, Minamitani K, Anzo M, Adachi M, Ishii T, Onigata K, et al. Guidelines for Mass Screening of Congenital Hypothyroidism (2014 Revision). Clin Pediatr Endocrinol 2015;24(3):107-133.

LaFranchi. Approach to the Diagnosis and Treatment of Neonatal Hypothyroidism. J Clin Endocrinol Metab, 2011;96(10):2959-2967

Alm J, Larsson A, Zetterstrom R. Congenital Hypothyroidism in Swede, Incidence and Age at Diagnosis. Acta PaediatrScand, 1978;67(1):1-3.

Fisher DA. Second International Conference on Neonatal Thyroid Screening: Progress Report. Jpediatr, 1983;102(5):653-654.

Infodatin Kementerian Kesehatan RI. Situasi dan Analisis Penyakit Tiroid. 2015.

Kementerian Kesehatan Republik Indonesia. Pedoman Skrining Hipotiroid Kongenital. 2014.

Park SM, Chatterjee VKK. Genetics of Congenital Hypothyroidism. J Med Genet, 2005; 42:379-389.

Adeniran KA, Limbe M. Review Article on Congenital Hypothyroidism nd Newborn Screening Program in Africa; the Present Situation and the Way Forward. Thyroid Disorders Ther 2012;1:1.

Ahmad N, Irfan A, Saedi SAA. Congenital Hypothyroidism: Screening, Diagnosis, Management, and Outcome. J Clin Neonatol, 2017;6:64-70.

International Atomic Energy Agency. Screening of Newborns for Congenital Hypothyroidism, Guidance for Developing Programmes. 2005.

Langham S, Hindmarsh P, Krywawych S, Peters C. Screening for Congenital Hypothyroidism: Comparison of Borderline Screening Cut-Off Points and the Effect on the Number of Children Treated with Levothyroxine. Eur Thyroid J, 2013;2:180-186.

Mandel SJ, Hermos RJ, Larson CA, Prigozhin AB, Rojas DA, Mitchell ML. Atypical hypothyroidism and the Very Low Birthweight Infant. Thyroid, 2000;10(8):693-695.

Bhattacharya A. Congenital Hypothyroidism and Developmental Difficulties. Gen Med (Los Angel), 2013;1:1.

Bakopoulos N, Despotidis O, Saridi M. Congenital Hypothyroidism: A Variety of Clinical and Mental Signs. International Journal of Caring Sciences, 2015;8(3):819-829.

Klein AH, Meltzer S, Kenny FM. Improved Prognosis In Congenital Hypothyroidism Treated Before Age Three Months. JPediatr, 1972, 81(5):912-915.

LaFranchi SH, Austin J. How Should We Be Treating Children With Congenital Hypothyroidism? JPediatrEndocrinol, 2007;20(5):559-578.




DOI: http://dx.doi.org/10.24293/ijcpml.v26i3.1527

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