Searchable abstracts of presentations at key conferences in endocrinology

ea0084op-08-39 | Oral Session 8: Basic 2 | ETA2022

Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism

Muzza Marina , Gentilini Davide , de Filippis Tiziana , Calzari Luciano , Cristina Vigone Maria , Weber Giovanna , Cassio Alessandra , Olivieri Antonella , Persani Luca

Congenital Hypothyroidism (CH) is the most common congenital endocrine disease and avoidable cause of severe mental retardation. The CH pathogenesis may include the contribution of genetic and environmental factors. However, causal mutations have been found in a minority of cases. Moreover, the elevated frequency of discordance for CH phenotype between monozygotic (MZ) twins suggests the involvement of non-Mendelian mechanisms. Aim of this study was to investigate the role of ...

ea0092ps3-23-06 | Pregnancy | ETA2023

Iodine nutrition in italian pregnant women: preliminary results of a multicenter study

De Angelis Simona , Rotondi Daniela , Bagnasco Marcello , Boi Francesco , Bonofiglio Daniela , Mariotti Stefano , Mian Caterina , Moleti Mariacarla , laura Tanda Maria , Tonacchera Massimo , Vermiglio Francesco , Ulisse Salvatore , Medda Emanuela , Sorbo Angela , D'Amato Marilena , Chiara Turco Anna , Ferrarini Eleonora , De Marco Giuseppina , Russo Giampiero , Morelli Michele , Sanna Stefania , Corongiu Margherita , Musso Laura , Giovanna Perdichizzi Laura , Olivieri Antonella

Background and objectives: Recent data on median urinary iodine concentration (UIC) in schoolchildren showed that Italy has achieved iodine sufficiency. Nevertheless, no national data on iodine nutrition in pregnancy are available. Therefore, a multicentre study coordinated by the Italian National Observatory for Monitoring Iodine Prophylaxis (OSNAMI), was launched in 8 Italian regions representative of the Northern (Lombardy, Veneto, Liguria), Central (Tuscany, Lazio) and Sou...