ESPE Abstracts

Background: In North-Eastern Italy, a newborn screening for congenital adrenal hyperlpasia (CAH) has been taking place since 2001 to diagnose the classical form of 21-hydroxylase deficiency (21-OHD). Thanks to the screening program based on 17-OHP levels in dried blood spots, early diagnosis of CAH is possible, allowing appropriate precocious treatment and reducing mortality rates. Unfortunately, a high false positive rate, especially in preterm, low-birth-wei...

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 t...

Background: Thyroid function in preterm infants is often altered for various reasons. LBW or VLBW newborns frequently present a particular form of congenital hypothyroidism (CH) characterized by low FT4 and delayed TSH elevation. The incidence of this disease is 1:250 for VLBW babies and 1:1589 for LBW newborns. In this condition, neonatal screening based solely on TSH can miss the diagnosis, therefore some screening programs have proposed to repeat the screening te...

Background: Maternal autoimmune hypothyroidism can have negative consequences on the fetus: on the one hand, maternal hypothyrosinemia might affect the fetal brain development in the early stages of pregnancy; on the other, thyroid inhibiting antibodies can pass through the placenta. It is currently unclear if these antibodies may affect the newborn’s thyroid function. Consequently, there are no certain indications regarding the management of newborns bor...

Background: The benefit of re-screening at 15 days of life in infants born to mothers with thyroid diseases (TD+) is a debated issue. In Italy, all the 16 newborn screening (NBS) laboratories use TSH measurement on dried blood spot as primary screening test for primary congenital hypothyroidism (CH) and adopt a 2-screen strategy in special categories of infants at risk of delayed TSH rise (preterm birth, admission to NICU, extra-thyroidal malformations, twinni...