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  1. Article

    Open Access

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

    The elevated frequency of discordance for congenital hypothyroidism (CH) phenotype between monozygotic twins suggests the involvement of non-mendelian mechanisms. The aim of the study was to investigate the ro...

    D. Gentilini, M. Muzza, T. de Filippis in Journal of Endocrinological Investigation (2023)

  2. No Access

    Article

    “Block-and-replace” treatment in Graves’ disease: experience in a cohort of pediatric patients

    The “block-and-replace” (BR) method involves the use of a high dose of antithyroid drugs (ATD) with levothyroxine (L-T4). Its use in the management of Graves’ disease (GD) is still debated mainly because the f...

    M. C. Vigone, E. Peroni, M. Di Frenna, S. Mora in Journal of Endocrinological Investigation (2020)

  3. No Access

    Article

    Heterogeneous phenotype in children affected by non-autoimmune hypothyroidism: an update

    In the last decades, a higher incidence of congenital hypothyroidism (CH) has been recorded in Italy (1:1940) and worldwide, mainly due to the shift to lower screening TSH cutoffs. Although CH can also be caus...

    M. C. Vigone, M. Di Frenna, G. Weber in Journal of Endocrinological Investigation (2015)

  4. No Access

    Article

    Acute suppurative thyroiditis in childhood: relative frequency among thyroid inflammatory diseases

    M. Wasniewska, M. C. Vigone, M. Cappa in Journal of Endocrinological Investigation (2007)

  5. No Access

    Article

    Congenital hypothyroidism with gland in situ: Diagnostic re-evaluation

    In the past, most congenital hypothyroidism (CH) children with thyroid gland in situ were considered to be affected by hormonogenesis defect. Nowadays, the improved sensitivity of neonatal screening, novel insigh...

    G. Weber MD, M. C. Vigone, A. Passoni in Journal of Endocrinological Investigation (2005)

  6. No Access

    Article

    Congenital hypothyroidism: Auxological retrospective study during the first six years of age

    We examined length, height and weight from birth to six years of age and head circumference during the first two years in 89 children with congenital hypothyroidism (CH). The patients were divided in two group...

    Dr. V. Siragusa, A. Terenghi, G. F. Rondanini in Journal of Endocrinological Investigation (1996)