Endocrine Abstracts

Introduction: Multiple endocrine neoplasia type 2 (MEN2) comprise a group of heritable disorders that result from mutations in the RET proto-oncogene on chromosome 10. MEN2 is sub classified into MEN2A and MEN2B; these syndromes are characterised by the development of tumours at multiple sites. MEN2A is characterised by medullary thyroid cancer, phaeochromocytoma, and primary parathyroid hyperplasia.Description/case presentation: The index case is a 49 y...

Background: Chronic hypophosphataemia due to renal phosphorus wasting results in bone disease (rickets and osteomalacia). The principal regulators of renal phosphorous handling are parathyroid hormone (PTH) and fibroblast growth factor 23 (FGF23). X-linked hypophosphatemic (XLH) rickets is the most common genetic disorder of renal phosphorus wasting; acquired disorders include tumour-induced osteomalacia (TIO). The aims of this study were: i) to assess the clinical utility of ...

Bone turnover markers (BTMs) may have a role in assessing bone turnover and response to intervention in Paget’s disease. We examined the clinical utility of bone turnover markers at diagnosis through analysis of our database of patients with radiographically confirmed Paget’s disease.We identified 36 patients (20 men); mean age at diagnosis was 71.6 years (range 54–84). Radionuclide imaging identified that 64% had polyostotic disease, with...

Aim: To evaluate whether a prospective randomised controlled trial of intensive lifestyle intervention delivered on a monthly out-patient basis can result in reduced cardiovascular risk, and improved quality of life in obese patients with type 2 diabetes.Patients and Methods: Patients were recruited from diabetes out-patient clinics. All subjects underwent a treadmill exercise test to assess eligibility before randomization. Subjects with a negative exer...

Introduction: Fibroblast growth factor 23 (FGF23) excess is the cause of chronic hypophosphatemia in rare conditions such as X-linked hypophosphataemic rickets (XLHR) and tumour-induced osteomalacia (TIO), but animal studies indicate that the effect of FGF23 on serum phosphorus is dependent on the presence of parathyroid hormone (PTH). In this case series of rare disorders with abnormalities in renal phosphorus handling, we sought to explore the relative roles of PTH and FGF23...

Familial hypocalciuric hypercalcaemia (FHH) comprises three types: FHH1, FHH2, and FHH3, which are due to mutations of the calcium-sensing receptor (CaSR), G-protein α 11 subunit (Gα11), and adaptor protein-2 sigma subunit (AP2σ), respectively. The aims of this study were: to assess for genotype–phenotype correlations among the three reported FHH3-causing AP2σ mutations, which all involve the Arg15 residue, and comprise Arg15Cys, Arg15His, and Arg15Leu...

Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder characterized by hypercalcaemia and inappropriately low urinary calcium excretion, and is occasionally associated with acute pancreatitis. FHH can be classified into three types: FHH type 1, caused by loss-of-function mutations of the calcium-sensing receptor (CaSR), which accounts for >65% of cases; FHH type 2, due to loss-of-function mutations of the G-protein α 11 subunit (Gα11), of ...