hrp0092p1-148 | Thyroid | ESPE2019

Activating mutation M453V in receptor TSHR as a cause familial hyperthyroidism

Sawicka Beata , Stephenson Alexandra , Borysewicz- Sanczyk Hanna , Michalak Justyna , Stozek Karolina , Tanja Diana , Kahaly George , Paschke Ralf , Bossowski Artur

The most common hyperthyroidism in children is Graves' disease. The other rare cause of hyperthyroidism is activating mutation in receptor TSHR in thyroid gland.We would like to introduce a case of familial hyperthyroidism with a novel mutation M453V in the TSHR in three membersActually 11-year-old boy is a patient in outpatient clinic for first days after birth. During gestation his mother was treated with thyreostatic drugs b...