hrp0086p2-p947 | Thyroid P2 | ESPE2016

Delayed Diagnosis of a TSH-Adenoma due to Coexisting Autoimmune Thyroid Disease

Crudo David , Constantacos Catherine , Walsh Elizabeth

Background: TSH-secreting pituitary adenomas are rare, accounting for less than 2% of all pituitary adenomas. Their diagnosis may be difficult when a coexistence of other diseases masks the typical clinical and biochemical manifestations of TSH-hypersecretion.Objective: To report a case of a TSH-adenoma without signs/symptoms of hyperthyroidism due to underlying autoimmune thyroid disease.Results: Patient is a 17 year old male who ...

hrp0092p1-25 | Diabetes and Insulin | ESPE2019

Pathogenicity of GCK Gene Mutation c.364C>G (p.Leu122Val)

Crudo David , Walsh Elizabeth , Constantacos Cathrine , Hunter Janel

Background: Over 800 different mutations in GCK gene have been reported in the Human Gene Mutation Database, the vast majority of which result in monogenic diabetes (Maturity Onset Diabetes of the Young, MODY type 2). The missense mutation p.Leu122Val is listed in that database as "disease-causing". However, the National Center for Biotechnology Information ClinVar database (Variation ID 585919) reports that this mutation is of "uncertain ...

hrp0084p3-1226 | Thyroid | ESPE2015

A Rare Adverse Effect of Radioactive Iodine Therapy in a Child with Graves’ Disease

Walsh Elizabeth , Brown Marcie Drury , Crudo David , Constantaocs Cathrine

Background: Radioactive iodine (RAI) therapy has become the preferred treatment for GravesÂ’ disease in children. Its use has found favour due to the risk of adverse effects in medical management and the invasiveness of thyroidectomy. Side effects of RAI in adults are well-documented and include dry mouth, sore throat, and neck pain. With its relatively recent application to paediatric patients, there is not a complete understanding of adverse effects in the paediatric pop...