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Yearbook of Paediatric Endocrinology 2021

3. Thyroid

New Genes

ey0018.3-11 | New Genes | ESPEYB18

3.11. Human type 1 Iodothyronine deiodinase (DIO1) mutations cause abnormal thyroid hormone metabolism

MM Franca , A German , GW Fernandes , XH Liao , AC Bianco , S Refetoff , AM Dumitrescu

Thyroid. 2021;31:202–207. doi: 10.1089/thy.2020.0253.This study describes a new genetic thyroid disease that might be unnoticeable in individuals with normal thyroid synthetic capacity, but may cause harm in all patients who are dependent on levothyroxine substitution such as congenital hypothyroidism, acquired hypothyroidism, or post-thyroidectomy.Three iodothyro...