Searchable abstracts of presentations at key conferences in endocrinology

ea0011p824 | Thyroid | ECE2006

Clinical characterisation and genetic analysis of a large euthyroid family with TSH-receptor germline mutation (N372T) and a hyperthyroid index patient with an additional somatic tsh-receptor mutation (S281N) on the second TSH-receptor allele

Gozu Hulya Iliksu , Bircan Rifat , Krohn Knut , Müller Sandra , Yavuzer Dilek , Ekinci Gazenf , Sargin Haluk , Sargin Mehmet , Orbay Ekrem , Cirakoglu Beyazi , Paschke Ralf

Objective: 21 different activating germline mutations have been identified up to date. We describe a large euthyroid family with a new TSH-receptor(TSHR) germline mutation where the hyperthyroid index patient also carries a somatic TSHR mutation.Method: Mutation analysis of the exon 9 and 10 of the TSHR gene from the peripheral blood samples of the members of this family and toxic thyroid nodules of the index patient were performed by denaturing gradient...