ESPE Abstracts (2018) 89 P-P2-408

The Congenital Hypothyroidism Screening Programme in a Sigle Italian Centre: a 5-Years Retrospective Study

Maria Cristina Maggioa, Saveria Sabrina Ragusaa, Tommaso Silvano Aronicab, Orazia Maria Granatab, Eleonora Gucciardinob & Giovanni Corselloa


aUniversity Department Pro.Sa.M.I. ‘G. D’Alessandro’, University of Palermo, Italy, Palermo, Italy; bU.O.S. Screening Neonatale e Metabolico Allargato of the Children Hospital ‘G. Di Cristina’, ARNAS, Palermo, Palermo, Italy


Congenital hypothyroidism (CH) occurs in approximately 1:2000–1:3000 newborns in Italy. Lowering of the TSH cut-off was the most important factor contributing to the increase of CH incidence in Italy. The aim of this study is the determination of the prevalence of CH in northwest Sicily, evaluated by the single screening centre of the Children Hospital ‘G. Di Cristina’, ARNAS, Palermo. From January 2013 to December 2017, 79.699 newborns were screened testing TSH from blood spots. The neonates with TSH≥6 mU/l were recalled measuring serum fT4, fT3, TSH, anti-TG and anti-TG antibodies, and thyroid echography. To evaluate the effect in lowering the TSH cut-off, we compared the cases of confirmed CH (transitory or permanent), considering a different TSH cut-off (≥6–<7; ≥7–<10; ≥10). The number of screening in 2013 was 17.472: 941 (5.9%) were recalled; 50 (0.29%) were confirmed as having CH. Considering a TSH cut-off ≥6–<7, 7/50 (14%) patients were affected; considering a cut-off ≥7–<10, 17/50 (34%); considering a cut-off ≥10, 26/50 (52%). The number of screening in 2014 was 16.020: 680 (4.24%) were recalled; 40 (0.24%) were confirmed as having CH. Considering a TSH cut-off ≥6–<7, 3/40 (7.5%) patients were affected; considering a cut-off ≥7–<10, 13/40 (32.5%); considering a cut-off ≥10, 24/40 (60%). The number of screening in 2015 was 15.502: 627 (4.04%) were recalled; 62 (0.40%) were confirmed as having CH. Considering a TSH cut-off ≥6–<7, 10/62 (16.1%) patients were affected; considering a cut-off ≥7–<10, 20/62 (32.2%); considering a cut-off ≥10, 32/62 (51.6%). The number of screening in 2016 was 15.670: 659 (4.21%) were recalled; 80 (0.51%) were confirmed as having CH. Considering a TSH cut-off ≥6–<7, 10/62 (16.1%) patients were affected; considering a cut-off ≥7–<10, 26/80 (32.5%); considering a cut-off ≥10, 35/80 (43.75%). The number of screening in 2017 was 15.037: 838 (5.57%) were recalled; 98 (0.65%) were confirmed as having CH. Considering a TSH cut-off ≥6–<7, 28/98 (28.5%) patients were affected; considering a cut-off ≥7–<10, 40/98 (40.8%); considering a cut-off ≥10, 30/98 (30.6%). Considering a TSH cut-off ≥6–<7, 58/330 (18%) CH were identified by the screening, otherwise impossible to be precociously evaluated. There were no statistically significant differences in permanent or transitory CH in the 3 groups. The relieve of low cut-off for CH minimize the risk of underdiagnoses.The high incidence of CH in our population could be linked to geographical endemic.

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