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...

IntroductionFamilial hypocalciuric hypercalcemia (FHH) is an autosomal dominant trait comprising hypercalcemia, hypophosphatemia and an unusually low renal clearance of calcium. The vast majority of FHH is caused by loss-of-function mutations in the gene CASR, which codes for the calcium-sensing receptor (CASR). CASR is a G-protein coupled membrane receptor expressed in the parathyroid glands and the kidneys, among other tissues. It is generally asymptom...

Background: SIADH is the most frequent underlying cause of hyponatraemia but is frequently ignored and suboptimally treated.Aim: To identify the treatment applied in clinical practice for hyponatraemia due to SIADH and to evaluate the effect of fluid deprivation.Method: A prospective, non-intervention observational study of a sequentially evaluated cohort of hyponatraemic patients during first 48 h after hospitalization from Januar...

Introduction: Excess mortality due to hyponatraemia is well documented but it is not clear whether the mortality associated with SIADH is different to that associated with non-SIADH hyponatraemia (NSH).Methods/design: Prospective evaluation of all patients admitted with or developing hyponatraemia in a tertiary hospital (pNa <130 mmol/l) in January 2015. Diagnosis of SIADH was based on standard clinical and biochemical criteria (pNa, spot urine sodiu...

Introduction: Simultaneous pancreatic kidney transplantation (SPK) has become the therapy of choice in patients with type 1 diabetes mellitus (DM) and end stage diabetic nephropathy.Methods: An analysis was performed of type 1 diabetic patients with end stage diabetic nephropathy who received treatment with SPK between 2001–2011 in the South West of Ireland, population 663,176 with a prevalence of type 1 DM in this region estimated to be 0.3%. Data ...

Introduction: Xanthoma disseminatum (XD) is a rare, non - familial disease characterised by lipid deposition in skin and internal organs due to histiocytic cell proliferation, classified as a non-Langerhans cell histiocytosis. The disease is characterised by symmetrically distributed, coalescing cutaneous papules, initially red–brown then yellow involving the face, trunk, flexural and intertriginous areas. Involvement of mucous membranes has been reported. The upper and l...

Context: The syndrome of inappropriate antidiuresis(SIAD) is the commonest cause of hyponatraemia. Data on the aetiology of SIAD is mainly derived from retrospective studies, often with poor ascertainment of minimum criteria for correct diagnosis. Although central adrenal insufficiency(CAI) is known to cause euvolaemic hyponatraemia, the incidence of undiagnosed CAI in SIAD is unknown.Objective: To establish the incidence of CAI in SIAD.<p class="abs...

IgG4 related hypophysitis is a recently described entity belonging to the IgG4 related diseases. It is characterised by markedly elevated serum IGG4 levels and tissue infiltration by IgG4 positive plasma cells. To date, 34 cases of IgG4 related hypophysitis have been described but only a handful were in women or biopsy proven. We describe a case of a 58 year old woman who presented with transient headache. She also complained of polyuria and nocturia. She had a thyroidectomy f...

Context: Fluid restriction (FR) is recommended as first line therapy for SIAD by both the European1 and the American guidelines2 for management of SIAD. Not all patients respond to FR however, and the American guidelines have identified clinical predictors of failure to respond to FR. These include 1.Urine osmolality (UOsm) >500 mOsm/Kg 2. Furst formula (ratio UNa+UK/pNa) > 1, and 3. 24 hour-urine volume<1500 mlObjective...