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 ...