Searchable abstracts of presentations at key conferences in endocrinology

ea0021p191 | Endocrine tumours and neoplasia | SFEBES2009

A family with functional extraadrenal paragangliomas and positive SDHB gene mutation

Polydorou Doro , Kenz Sami , Kannapan Daniel , Kearney Tara

Extradrenal paragangliomas can occur in individuals at any age although most arise in the fourth or fifth decade. Familial paragangliomas constitute approximately 10% of cases. These are part of a rare syndrome characterized by slow-growing tumors derived from paraganglia tissue. Recent years have brought significant progress in identifying the genetic etiology of this syndrome.Thirty-eight years old female was referred to the endocrine department by ENT...

ea0021p396 | Thyroid | SFEBES2009

A case of thyroid hormone resistance in a family with three generations of thyroid disease

Polydorou Doros , Kannapan Daniel , Kenz Sami , Paisley Angela , Kearney Tara

An 18-year-old male referred to endocrine department 3 years ago with symptoms of tremor in both hands and query thyrotoxicosis. Presenting TFTs showed raised T3 and T4 levels with normal TSH (FT4 – 45 pmol/l, FT3 – 3.3 pmol/l and TSH of 1.4 mU/l). There was family history of thyroid disease with both the patient’s father and grandmother diagnosed with overactive thyroid. Patient’s TFTs were reproduced with differ...