Endocrine Abstracts

Introduction: Hypercalcaemia is a common electrolyte disturbance in patients presenting acutely and can be cause or effect of a multitude of disorders. We present four cases, in which the hypercalcaemia masked or unmasked underlying pathology that may have otherwise gone undiagnosed.Case series: A 36-year old man presented with acute pancreatitis after completing a marathon. Bloods: adjusted calcium (cCa) 3.16 mmol/L, phosphate 0.5...

Introduction: Hypercalcaemia is a common electrolyte disturbance in patients presenting acutely and can be cause or effect of a multitude of disorders. We present four cases, in which the hypercalcaemia masked or unmasked underlying pathology that may have otherwise gone undiagnosed.Case series: A 36-year old man presented with acute pancreatitis after completing a marathon. Bloods: adjusted calcium (cCa) 3.16 mmol/L, phosphate 0.5...

Background: Obese children are at greater risk of fracture. However, previous evidence suggests that obese children with a mutation in the melanocortin-4 receptor (MC4R) have a high age-adjusted bone mass. MC4R deficiency is associated with increased linear growth, so bone mass may be over-estimated due to patients being taller. We therefore aimed to compare body size-adjusted bone mass of lean and obese pre-pubertal children with those who have a mutation in MC4R.<p class...

Heterozygous mutations in GNAS1, which encodes the Gαs protein involved in multiple signalling pathways, are classically associated with Albright’s Hereditary Osteodystrophy (AHO). GNAS1 is one of few genetic loci that undergo allelic-specific methylation resulting in the parent-specific expression of at least four different transcripts. The classic constellation of phenotypic features includes short stature, round face, brachydactyly, obesity, dental hypopl...

Objectives: Tri-iodothyronine (T3) can improve cardiovascular performance following cardiac surgery. Its effects on myocardial protection are unknown.Methods: We performed two consecutive randomised double-blind placebo-controlled trials (identical management protocols) on patients undergoing first time isolated elective or urgent on-pump coronary artery bypass graft surgery (CABG). Between January 2000 and September 2004, 440 patients were re...

ObjectivesBoth glucose insulin potassium (GIK) and tri-iodothyronine (T3) may improve cardiovascular performance following cardiac surgery. The effects of combined treatment are unknown.MethodsAfter obtaining local research ethics committee approval, we performed a randomised double-blind placebo-controlled trial on patients undergoing first time elective/urgent isolated CABG. Between January 2000 ...

Introduction: Thyroid hormones act via receptors encoded by different genes (THRA and THRB) generating receptor subtypes (TRα1, TRβ1, TRβ2) with differing, tissue-specific expression. Resistance to Thyroid Hormone due to THRB defects is well recognised, but no THRA mutations have yet been reported. We describe the first case of human TRα-mediated thyroid hormone resistance due to a dominant negative THRA mutation.Results: A 6-year-old...

Introduction: Thyroid hormones act via receptors encoded by different genes (THRA and THRB) generating receptor subtypes (TRα1, TRβ1, TRβ2) with differing, tissue-specific expression. Resistance to Thyroid Hormone due to THRB defects is well recognised, but no THRA mutations have yet been reported. We describe the first case of human TRα-mediated thyroid hormone resistance due to a dominant negative THRA mutation.Results: A 6-year-old...