ea0056oc9.1 | Thyroid from basics to clinics | ECE2018
Gonzalez-Guerrero Cristian
, Lucia Federico S.
, Alcaina Yago
, Gonzalez-Lopez Ana M.
, Buno Antonio
, Mora Roberto
, De Miguel Maria Paz
, Moreno Jose C.
Thyroid hormones (TH) synthesis requires iodine, a scarce element whose recycling is mediated by the iodotyrosine dehalogenase (encoded by the DEHAL1 gene) through deiodination of mono- and di-iodotyrosines. In humans, biallelic mutations in DEHAL1 lead to a severe form of congenital hypothyroidism (CH) non detectable by neonatal screening programs, which involves the risk of mental retardation. The timing and triggering factors of this particular type of hyp...