Endocrine Abstracts

Plasma homocysteine is now regarded as a graded risk factor for vascular disease comparable to smoking, high cholesterol and raised blood pressure. In diabetes homocysteine values have correlated with microalbuminuria and are thought to contribute to vascular damage. Folic acid is an essential co-factor for homocysteine metabolism and folic acid supplementation has been shown to reduce plasma homocysteine by about 30%.In this study patients with Type II ...

A 47 year-old woman was referred with hypercalcaemia. She was receiving lithium, haloperidol and olanzapine for a schizo-affective disorder. Five years previously she had been diagnosed with liver metastases and a biopsy confirmed a neuroendocrine tumour. She had been told that her life-expectancy was limited, and she was discharged. Her calcium was 2.7mmol/l three years ago. At presentation to her local hospital, her calcium was >6.0mmol/l. She was treated aggressively wi...

A 29 year old woman was admitted to her local hospital with haematemesis, and found to be hypercalcaemic. A peptic ulcer was confirmed and she was commenced on omeprazole. There was biochemical evidence of primary hyperparathyroidism and a single-gland parathyroidectomy was performed. During her admission, a diagnosis of gastrinoma was suspected, but an attempt at measuring fasting gut hormone concentrations off omeprazole therapy resulted in gastro-intestinal perforation. She...

Towards the end of pregnancy, when maternal steroidogenesis is stimulated, the fetal adrenal gland undergoes significant developmental changes. To test responsiveness to external stimuli at this stage, we fed pregnant rats with diets containing 0.03% (low), 0.3% (normal) or 3% (high) sodium to manipulate aldosterone synthesis. Dietary sodium variations had no deleterious effects on numbers or weights of foetuses at embryo day 20. Maternal adrenal weights were unaffected by die...

Congenital hypothyroidism (CH) occurs in approximately 1 in 3000 individuals. Rapid detection by neonatal screening and T4 administration is essential to prevent severe mental retardation and impaired growth. About one third of CH is due to mutations in known genes including the thyrotropin receptor (TSHR).Two Welsh male siblings with CH were detected, both had normally sized and located thyroid glands, no iodide uptake and were negative for thyroid bloc...

Introduction: Primary aldosteronism (PA) is the most frequent form of endocrine hypertension and is commonly caused by an aldosterone producing adenoma (APA). Germline and somatic mutations in the KCNJ5 gene have been found in up to 40% of APAs and demonstrated to play a crucial role in the pathophysiology of PA.Aim: Here we characterize and investigate the effects of the most common KCNJ5 mutations on cellular death mechanisms based on...

Background: The BRAFV600E mutation is the most common mutation in papillary thyroid carcinoma (PTC). Its presence has been associated with extrathyroid invasion, lymph node metastasis, and tumor recurrence. Recently, assessment of the BRAFV600E mutation status in patients with PTC has been used as a method to predict tumor aggressiveness.Objective: Our aim has been to analyze the prevalence of BRAFV60...

Currently in the UK children and young people with diabetes receive variable provision of care and support in educational settings. There are concerns that this impacts on the young person’s glycaemic control, their quality of life, and their educational performance and outcome. Whilst most paediatric diabetes teams provide training for school staff, it may take several days, even weeks, after diagnosis before a diabetes educator is able to attend the school to provide ed...

Disparities in the quality of care for patients with type 1 diabetes (T1D) undergoing transition from children’s to adult services are well recognised. Poor planning and ill-defined care pathways promote patient disengagement with many becoming ‘lost’ to specialist follow-up for years. This study sought to obtain the views of young people’s experiences of transition to identify perceived barriers to an effective and rewarding transition experience. A qualit...

Background: Hereditary hypophosphatemia (HH) are rare diseases, characterized by excessive renal phosphate wasting and inappropriately low 1,25-dihydroxy-vitamin D causing hypophosphatemia. In children, the disease manifests as rickets and osteomalacia, in adults osteomalacia.Aim: The study aims to describe the co-morbidities more prevalent in adults (18y+) with HH and the median age at first diagnosis compared to controls.Methods:...