Abstract
IntroductionCongenital hypothyroidism is an endocrine disease with a significant incidence in the general population (1:2000–1:3000 newborns in Italy) and a different geographical distribution, partially explained by endemic iodine deficiency, genetic traits and autoimmune thyroid diseases.ObjectivesAims of this study are: to evaluate the incidence of positive neonatal blood spot screening for CH in western Sicily, identified by the screening centre of the Children Hospital “G. Di Cristina”, ARNAS, Palermo; to evaluate the impact of a lower TSH cutoff in the neonatal blood spot screening for CH.Materials and methodsThe TSH threshold of the neonatal screening was established as ≥6 mU/L of whole blood.We analysed the screening centre data in the period January 2013–April 2018, for a total number of 85.373 babies (45.7% males; 54.3% females).Results4.082 Babies (4.8%) required a second screening. Among these, 372 (0.44%) were out of range. The diagnosis of congenital hypothyroidism (CH) was confirmed in 182 babies (0.21%). 77/372 newborns (20.7%) with confirmed high TSH levels showed whole blood TSH levels ≥6 - < 7 mU/L.In synthesis, 48.9% of the out of range re-testing had a confirmed diagnosis of CH.ConclusionThe reduction of TSH cutoff to 6 mU/L allowed to identify 77/372 neonates (20.7%) with confirmed out of range TSH, otherwise not recruited by the previously employed TSH cutoff.
Highlights
Congenital hypothyroidism is an endocrine disease with a significant incidence in the general population (1:2000–1:3000 newborns in Italy) and a different geographical distribution, partially explained by endemic iodine deficiency, genetic traits and autoimmune thyroid diseases
Neonatal screening allows the precocious diagnosis of Congenital hypothyroidism (CH) and supports timely the l-thyroxine replacement therapy preventing or mitigating this intellectual disability [1]
We performed a retrospective analysis of neonatal screening data, diagnosis and treatment procedures performed for CH and collected in one of the two Sicily’s screening centers from January 2013 to April 2018
Summary
Congenital hypothyroidism is an endocrine disease with a significant incidence in the general population (1:2000–1:3000 newborns in Italy) and a different geographical distribution, partially explained by endemic iodine deficiency, genetic traits and autoimmune thyroid diseases. Congenital hypothyroidism (CH) occurs in approximately 1:2000–1:3000 neonates in Italy, with possible geographical differences, attributable to the genetic background, to a different incidence of autoimmune thyroiditis between young adult women and to the presence. An appropriate follow up allows to decide to try discontinuing l-thyroxine treatment, especially in children with mild increase of TSH levels in neonatal age, in preterm infants, in sons of mothers with autoimmune thyroiditis. More than 95% of neonates with CH have few, Maggio et al Italian Journal of Pediatrics (2021) 47:108 if any, clinical manifestations of hypothyroidism For this reason, neonatal screening allows the precocious diagnosis of CH and supports timely the l-thyroxine replacement therapy preventing or mitigating this intellectual disability [1]. A lower neurocognitive outcome may occur in those infants who started l-thyroxine later (> 30 days of age), or with lower l-thyroxine doses than currently recommended, and in those infants with more severe CH
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