Searchable abstracts of presentations at key conferences in endocrinology

ea0011p926 | Thyroid | ECE2006

The Gods placed the diagnosis before the therapy: case reports of the Slovak families with resistance to thyroid hormones

Vanuga P , Mendelova E , Fodor G , Vitesnik K , Savagner F , Malthiery Y , Pura M

Resistance to thyroid hormones (RTH), is with the exceptions caused by mutations in the gene coding β1-subunit of the thyroid receptor (TRβ1) located on chromosome 3. More than 700 individuals with RTH belonging to about 250 families have been identified up to date. The presence of goiter, tachycardia and hyperactivity together with abnormal findings on routine thyroid testing usually lead to further investigation and, ultimately, the diagnosis ...