ea0029p1667 | Thyroid (non-cancer) | ICEECE2012
Amor A.
, Oriola J.
, Quiros C.
, Alfayate R.
, Borras V.
, Escribano A.
, Gonzalez C.
, Gutierrez A.
, Mauri M.
, Perez P.
, Pico A.
, Vourliotaki I.
, Halperin I.
Introduction: Resistance to thyroid hormones (RTH) is a genetic disorder caused in 85% of cases by mutations in thyroid hormone receptor beta gene (TRĪ²). The current information about it in Spanish population is scarce, limited to case reports or short series of patients. Thus, we aimed to describe the clinical, biochemical and genetic features of Mediterranean patients with RTH referred to our institution (one of the referral centres in Spain) for genetic testing during ...