Searchable abstracts of presentations at key conferences in endocrinology

ea0013p340 | Thyroid | SFEBES2007

Pyogenic thyroiditis with hyperthyroxinaemia

Magee Glynis , McConnell Mae

A 14 year old girl presented with a two week history of painful throat and ears after having been previously treated with a course of antibiotics. She also complained of neck swelling and on further questioning admitted to increasing sweating and weight loss.On examination she had pyrexia of 38.9  °C and a tachycardia. A postural tremor was elicited and an enlarged, smooth, tender goitre. Initial laboratory investigations were fT4 56.2 and TSH ...

ea0037ep1128 | Endocrine tumours | ECE2015

A unique case of hyperparathyroidism-jaw tumour syndrome due to a previously unreported pathogenic duplication mutation of CDC73 gene

Bogusz Pawel , McConnell Elizabeth Mae , McConnell Vivienne , Korda Marian

Hyperparathyroidism-jaw tumour syndrome (HPT-JT) is a rare autosomal dominant condition characterized by primary hyperparathyroidism (<90%) as a result of parathyroid adenoma or carcinoma (10–15%), ossifying fibromas of mandible and maxilla (30–40%), renal lesions (20%) most commonly cysts and benign and malignant uterine tumours and caused by germline CDC73 pathogenic gene mutations. Currently only 200 cases reported in medical literature. His management has pro...