ESPE Abstracts (2019) 92 RFC9.3

Neonatal Screening for Congenital Hypothyroidism: Analysis of a Large Coorte of Affected Patients (1987-2017) and Relationship with Perfluoroalkylated Substances (Pfas) in North-Eastern Italy

Rossella Gaudino, Federico Beccherle, Paolo Cavarzere, Silvana Lauriola, Marta Camilot, Francesca Teofoli, Monica Vincenzi, Christian Rizzoli, Franco Antoniazzi


Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, Unit Pediatrics, University of Verona, Verona, Italy


Background: Recent studies have analyzed the influence of perfluoroalkylated substances – PFAS (in particular PFOS and PFOA) on people and thyroid. Children are primaly affected by these pollutants. On the other side variation of incidence of congenital hypothyroidism (CH) has been shown in recent years by different studies. We sought to determine whether the incidence of CH in north-eastern Italy has changed in relation to some endocrine disruptors and their potential effect on maternal and newborn health.

Methods: We analyzed data from the regional neonatal screening program for CH during the period 1987-2017 (more than 500 newborn with CH). We included all children having TSH values above the threshold and for whom diagnosis of CH was confirmed. We valuated personal, biological and health data about both the mothers and the children. Environmental monitoring data about PFAS were provided by Arpav.

Results: The incidence of CH increased in North-eastern Italy during the past years, as the percentage of ectopic glands, furthermore there's an area with an increased number of cases, partially comparable to the area polluted by PFAS. Considering other aspects of pregnancies (about both mother and child), this study showed an higher rate of prematurity compared to general population (22% vs 7%) according to other studies conducted in Italy, and also an higher number of multiple pregnancies among mothers of CH children.

Conclusions: The raised incidence could partially be due to lowering cut-off but there's also a real increase of this condition in the population. The area with an increased number of cases is partially comparable to the area polluted by PFAS and more investigations are ongoing to establish the potential correlation. Some aspects of pregnancy show different percentages of CH compared to general population (multiple pregnancies, pre-term births and caesarean sections).