Endocrine Abstracts

A 30 year old woman presented with two year history of right lower leg pain. The pain was constant, worse in cold weather, not worsened by weight bearing and occasionally woke her from sleep. On examination she was tender on palpation of mid distal right tibia. X ray showed sclerotic portions of right tibia and fibula. MR lower right leg demonstrated extensive area of intramedullary bone marrow oedema in the distal half of the right tibia with associated cortical thickening an...

Primary hyperparathyroidism (PHPT) is a common endocrine disorder with a prevalence of 0.86% in Europe. Approximately 10% of cases are hereditary. Syndromic PHPT occurs as part of multiple endocrine neoplasia (MEN)1, MEN4, MEN2A and hyperparathyroidism jaw tumour syndrome. Non-syndromic causes include familial hypocalciuric hypercalcaemia. Establishing the underlying genetic cause allows for targeted, cost effective management. Current guidelines recommend that genetic testing...