hrp0084p2-570 | Thyroid | ESPE2015
, Iglesias Ainhoa
, Akkurt Halit Ilker
, Helmke Knut
, Moreno Jose Carlos
Background: Iodotyrosine deiodinase (DEHAL1) is a thyroidal enzyme that deiodinates mono- and diiodtyrosines (MIT, DIT) and recycles iodine, essential for synthesis of thyroid hormone. Iodotyrosine deiodinase deficiency leads to hypothyroidism, goiter and variable mental retardation. The age for clinical onset was reportedly very diverse, allegedly related to individual iodine nutrition.Clinical case: We report on a boy, offspring of consanguineous paren...