DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20203974

Clinical profile of congenital hypothyroidism identified through new-born screening: a retrospective observational study

Sudhakar Palanisamy, Ramesh Srinivasan

Abstract


Background: Congenital hypothyroidism is one of the most common preventable causes of mental retardation. The incidence and etiology of congenital hypothyroidism varies significantly across the globe.

Methods: In this retrospective observational study we aimed to find out the incidence and etiology of congenital hypothyroidism identified by neonatal screening program. We included all neonates who had their thyroid stimulating hormone screening done in a tertiary care hospital of South India between January 2014 and June 2020 and were diagnosed as a case of congenital hypothyroidism. The growth patterns, clinical features, thyroxine dose requirement during follow-up were also studied.

Results: There were 23 babies diagnosed with congenital hypothyroidism during the study period. The incidence rate was 1 in 917 live births for inborn babies, and dyshormogenesis (60%) was the most common etiology. Two babies had clinical features associated with congenital hypothyroidism. None of the babies had clinical features of congenital hypothyroidism during follow-up and their growth & development were normal for age. Babies who required dose increments of thyroxine supplement turned out to be permanent congenital hypothyroidism.

Conclusion: Incidence of congenital hypothyroidism was high in our population. Dyshormogenesis was the most common etiology. Majority of congenital hypothyroidism babies were asymptomatic at diagnosis, so screening is a vital tool for early diagnosis. Babies who required thyroxine dose increment with age tend to be permanent congenital hypothyroidism.


Keywords


Congenital hypothyroidism, Thyroid dyshormogenesis, Thyroid dysgenesis, Dose increments, Newborn screening

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References


Bongers-Schokking JJ, Koot HM, Wiersma D, Verkerk PH, de Muinck Keizer-Schrama SM. Influence of timing and dose of thyroid hormone replacement on development in infants with congenital hypothyroidism. J Pediatr. 2000;136(3):292-7.

McGrath N, Hawkes CP, McDonnell CM, Cody D, O'Connell SM, Mayne PD, et al. Incidence of Congenital Hypothyroidism Over 37 Years in Ireland. Pediatrics. 2018;142(4):e20181199.

Olney RS, Grosse SD, Vogt RF. Prevalence of congenital hypothyroidism--current trends and future directions: workshop summary. Pediatrics. 2010;125:31-6.

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.

Hinton CF, Harris KB, Borgfeld L, Drummond-Borg M, Eaton R, Lorey F, et al. Trends in Incidence Rates of Congenital Hypothyroidism Related to Select Demographic Factors: Data From the United States, California, Massachusetts, New York, and Texas. Pediatrics. 2010;125(2):37-47.

Albert BB, Cutfield WS, Webster D, Carll J, Derraik JG, Jefferies C, et al. Etiology of increasing incidence of congenital hypothyroidism in New Zealand from 1993-2010. J Clin Endocrinol Metab. 2012;97(9):3155-60.

Seeralar AT, Arasar J, Ganesh S. Newborn screening for congenital hypothyroidism in a tertiary care centre. Int J Contemp Pediatr. 2016;3(2):456-60.

Kumar K, Ranieri E, Fletcher J. Newborn Screening for Congenital Hypothyroidism in India- Is overdue. J Neonatal Biol. 2014;3(2):1-3.

Sanghvi U, Diwakar KK. Universal newborn screening for congenital hypothyroidism. Indian Pediatr. 2008;45(4):331-2.

Dorreh F, Chaijan PY, Javaheri J, Zeinalzadeh AH. Epidemiology of congenital hypothyroidism in Markazi Province, Iran. J Clin Res Pediatr Endocrinol. 2014;6(2):105-10.

Rastogi MV, LaFranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis. 2010;5(1):17.

Castanet M, Polak M, Bonaïti-Pellié C, Lyonnet S, Czernichow P, Léger J, et al. Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J Clin Endocrinol Metab. 2001;86(5):2009-14.

Dayal D, Sindhuja L, Bhattacharya A, Sodhi KS, Sachdeva N. Agenesis and not ectopia is common in North Indian children with thyroid dysgenesis. Indian J Endocrinol Metab. 2014;18(1):97-9.

Ford GA, Denniston S, Sesser D, Skeels MR, LaFranchi SH. Transient versus Permanent Congenital Hypothyroidism after the Age of 3 Years in Infants Detected on the First versus Second Newborn Screening Test in Oregon, USA. Horm Res Paediatr. 2016;86(3):169-77.

Oron T, Lazar L, Ben-Yishai S, Tenenbaum A, Yackobovitch-Gavan M, Meyerovitch J, et al. Permanent vs Transient Congenital Hypothyroidism: Assessment of Predictive Variables. J Clin Endocrinol Metab. 2018;103(12):4428-36.

Imge Hulur I, Hermanns P, Nestoris C, Heger S, Refetoff S, Pohlenz J, et al. A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion. J Clin Endocrinol Metab. 2011;96(5):E841-5.

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):107-33.

1Secchi LA de A, Mazzeu JF, Córdoba MS, Ferrari Í, Ramos HE, Neves F de AR. Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16). Arq Bras Endocrinol Amp Metabol. 2012;56(8):564-9.

Brown RS, Bellisario RL, Botero D, Fournier L, Abrams CA, Cowger ML, et al. Incidence of transient congenital hypothyroidism due to maternal thyrotropin receptor-blocking antibodies in over one million babies. J Clin Endocrinol Metab. 1996;81(3):1147-51.