Searchable abstracts of presentations at key conferences in endocrinology

ea0014p483 | (1) | ECE2007

Myasthenia gravis and autoimmune Addison’s disease in a patient with thymoma

Seker Mesut , Iliksu Gozu Hulya , Sonmez Berkant , Yavuz Fatih , Salepci Taflan , Orbay Ekrem , Sargin Mehmet , Sargin Haluk , Gumus Mahmut , Turk Boru Ulku , Yaylaci Mustafa , Yayla Ali

The association of thymoma with myasthenia gravis is well known, however association of these two syndromes (Thymoma+Myasthenia gravis) with AddisonÂ’s disease is very rare. In here we report myasthenia gravis and autoimmune AddisonÂ’s disease in a patient with thymoma.A 32-year-old man was admitted to our hospital with symptoms of weakness, anorexia, nausea, vomiting, pigmentation of skin and mucous membranes for 2 years. He had undergone to the...

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...