Endocrine Abstracts

Multiple parathyroid tumors causing hyperparathyroidism are the most common manifestation of multiple endocrine neoplasia type 1 (MEN1), displaying almost 100 percent penetrance by age 40–50 years. In most cases, it is the initial manifestation of MEN1.We report a case of young lady presented to hospital with diarrhoea and vomiting and diagnosed to have multiple peptic ulcers with severe oesophagitis. Her other biochemistry was consistent with prima...

Severe tricuspid regurgitation (TR) leads to a reduction in cardiac output and an increase in the central venous pressure, resulting in secondary organ dysfunction. Surgery for severe TR is a high-risk procedure, particularly in the presence of uncontrolled carcinoid syndrome (CS) symptoms. Replacement of leaking tricuspid valves can lead to reduction in tumour markers and improvement in carcinoid symptoms. Transcatheter valve implantation into the vena cava may be an alternat...

Introduction: Vitamin D insufficiency and deficiency are defined as a serum 25-hydroxy-vitamin D (25(OH)D) below 50 and 30 nmol/l respectively. We aimed to determine whether there is a serum 25(OH)D that signals a low serum calcium and phosphate, secondary hyperparathyroidism, high bone remodelling, low area bone mineral density (aBMD), and so, an increased risk for microstructural deterioration and bone fragility.Method: Concentrations of 25(OH)D, calci...

Background: Hyperinsulinemic hypoglycaemia refers to inappropriate secretion of insulin in the presence of low plasma glucose levels. One day old male infant 3.6kg, born to non-consanguineous parents referred for symptomatic hypoglycaemia. APGAR score was 8/10 and 9/10 at 1 and 5 minutes. There was no history of gestational diabetes mellitus in the mother. General physical examination was unremarkable. Glycemic monitoring revealed persistent hypoglycemia with low plasma glucos...

A 30-year-old lady presented with three episodes of generalised seizures, paraesthesiae, irritability, and intermittent confusion since her first delivery 5 months ago. Over the past 3 weeks, she had developed exertional dyspnoea and easy fatigue. She was previously fit and well and the recent delivery was eventless. On examination, she demonstrated carpopedal spasm and other typical features of hypocalcaemia. Serum calcium was 0.88 mmol/l (2.10–2.55), magnesium 0.63 mmol...

Aims: To assess the diagnosis and management of patients with thyrotoxicosis in a district general hospital comparing with American Thyroid Association (ATA) recommendations.Methods: Retrospective study, electronic case notes of patients referred to the endocrine clinic between May 2009 and April 2011 (n=148) were reviewed. A pro-forma was designed collecting details of demographics, investigations, diagnosis and treatments received.<p class...

Introduction: Cinacalcet acts at the calcium-sensing receptors on parathyroid cells to increase the sensitivity to circulating calcium concentrations. Studies have shown that this treatment is an effective means of managing hypercalcaemia in primary hyperparathyroidism.Aims: The aim of this study was to determine the outcomes of patients who had received cinacalcet for at least 3 months for primary hyperparathyroidism.Methods: We i...

Introduction: Generalised arterial calcification of infancy (GACI) is a rare autosomal-recessive disorder, associated with high mortality rate, due to inactivating mutations in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene that results in arterial stenosis secondary to unregulated hydroxyapatite deposition.Case report: A female baby was born at 34+5 weeks to consanguineous parents with a birth weight of 3.97 kg. Baby was born in ...

Introduction: Mutations in SLC29A3 lead to PHID and H syndromes, familial Rosai Dorfman Disease and Histiocytosis-lymphadenopathy plus syndrome. PHID syndrome is associated with short stature, pubertal delay, endocrine and exocrine pancreatic insufficiency. We report a new association of PHID syndrome with severe systemic inflammation, scleroderma-like changes and cardiomyopathy.Case report: A 12-year-old girl with PHID syndrome presented with shortness ...

Diabetes, one of the most commonly seen metabolic disorders, is affecting a major area of population in many developing as well as most of the developed countries and is becoming an alarming concern for the rising cost of the healthcare system. Latent Autoimmune Diabetes in Adults (LADA) is a form of diabetes which is less recognized and under diagnosed type of diabetes which appears to have characteristics of both type 1 (autoimmune in nature) and type 2 diabetes (adult age a...