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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 ...

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ea0063gp176 | Benign Thyroid Disorders | ECE2019

Do different initial doses of L-T4 within the range of 10–15 mcg/kg/die influence neurodevelopment during the first two years of life in children with congenital hypothyroidism?

Moracas Cristina , Ciccarelli Gian Paolo , Bravaccio Carmela , Cassio Alessandra , Gastaldi Roberto , Mussa Alessandro , Polizzi Miriam , Vigone Maria Cristina , Wasniewska Malgorzata Gabriela , Weber Giovanna , Salerno Mariacarolina

Background: The initial L-T4 dose in the treatment of congenital hypothyroidism (CH) currently recommended is 1015 mcg/kg/die.Objective: We designed a multicenter randomized trial to evaluate the effects of different starting dose of L-T4 within the range 1015 mcg/kg/die on neurocognitive development in children with CH.Methods: Seventy-two children with CH diagnosed by neonatal screening were enrolled in the study. The...

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Endocrine Abstracts

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

Do different initial doses of L-T4 within the range of 10–15 mcg/kg/die influence neurodevelopment during the first two years of life in children with congenital hypothyroidism?

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