Introduction: 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. Objectives: Aims 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 methods: The 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). Results: 4.082 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. Conclusion: The 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.

Maggio M.C., Ragusa S.S., Aronica T.S., Granata O.M., Gucciardino E., Corsello G. (2021). Neonatal screening for congenital hypothyroidism in an Italian Centre: a 5-years real-life retrospective study. THE ITALIAN JOURNAL OF PEDIATRICS, 47(1) [10.1186/s13052-021-01053-0].

Neonatal screening for congenital hypothyroidism in an Italian Centre: a 5-years real-life retrospective study

Maggio M. C.
;
Ragusa S. S.;Corsello G.
2021-01-01

Abstract

Introduction: 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. Objectives: Aims 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 methods: The 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). Results: 4.082 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. Conclusion: The 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.
2021
Maggio M.C., Ragusa S.S., Aronica T.S., Granata O.M., Gucciardino E., Corsello G. (2021). Neonatal screening for congenital hypothyroidism in an Italian Centre: a 5-years real-life retrospective study. THE ITALIAN JOURNAL OF PEDIATRICS, 47(1) [10.1186/s13052-021-01053-0].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10447/528145
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