Endocrine Abstracts

The prevalence of bronchial carcinoid, both typical (TC) and atypical (AC), has increased significantly over the past 30 years, most likely as a consequence of better awareness and diagnostic tools e.g. carcinoid specific immunohistochemistry stains. The peak incidence of TC and AC are in the fourth and fifth decades of life respectively. Diagnosis at younger ages is much rarer although carcinoid represents one of the commonest pulmonary tumours in children, teenagers and youn...

Background: Cystic fibrosis is an autosomal recessive disease characterised by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The mutations alter fluid secretion in the lungs and digestive systems and the vast majority of patients die from pulmonary disease. CF-related diabetes (CFRD) is the most significant co-morbidity for patients with CF and accelerates lung decline. Recent evidence from animal and cell models has implicated a role for CF...

Childhood hypothyroidism results in delayed skeletal maturation and impaired growth. Thyroid hormones act via thyroid hormone receptors α (TRα) and TRβ which are tempo-spatially regulated. In the skeleton, TRα is the predominant receptor, thus we hypothesise that the skeletal effects of hypothyroidism are mediated by TRα. To investigate this we assessed the response of wild type (wt), TRα knockout (TRα0/0) and TRβ knockout (TR...

Aims and Objectives: We conducted a study of 71 patients with Primary Hyperparathyroidism being managed in a single site Joint Endocrine Service. We sought to review the adherence to current international guidelines in managing these cases, and the effectiveness of pre-operative localization to inform surgical options.Results: A total of 71 cases were reviewed, of whom 35 were managed conservatively and 36 underwent surgery. Every patient undergoing surg...

Context: Despite the widespread use of the short synacthen test (SST), there remains no clear consensus on sampling times for the measurement of serum cortisol that best determines adrenal reserve.Objective: To establish whether there is any value in measuring serum cortisol at 60 minutes following administration of synacthen.Design and setting: Retrospective data analysis of 500 SST results measuring 0, 30 and 60 minute cortisol l...

Introduction: We have developed a highly sensitive LC–MS assay in an attempt to improve the measurement of salivary testosterone in female samples.Methods: A 200 μl saliva sample, calibrators or QC were mixed with 10 μl working internal standard (0.1 μg/l) and 1 ml of methyl tert-butyl ether (MTBE). Vortex mixed for 4 min and frozen at −80 °C (1 h). Unfrozen organic layer was transferred to a glass tube and evaporated. The ...

Background: The term “neuro-cardio-facial-cutaneous (NCFC) syndrome” describes a group of phenotypically overlapping syndromes that result from germline mutations in genes of the RAS-MAPKinase pathway. This pathway plays a role in growth factor signalling and short stature is a consistent feature of NCFC syndromes. This diagnostic group includes Noonan syndrome (NS) and cardio-facio-cutaneous (CFC) syndrome. Growth hormone (GH) has been used with good effect in NS. T...

A 24-year-old Pakistani woman presented one day after returning from a 6-week holiday in Pakistan with a 3-day history of generalised weakness, difficulty in walking and left flank pain. She was known to have mixed connective tissue disease (MCTD). Clinically she was pyrexial and had generalised muscular weakness (power 3/5), and hypotonia. Biochemically, she was found to have hypokalaemia (1.8 mmol/l), raised serum urea (8.1 mmol/l), and creatinine (160 μmol/l), high ESR...

Insulinoma is a rare tumour, but is the commonest cause of hyperinsulinaemic hypoglycaemia in adults. It is characterised by symptomatic hypoglycaemia with inappropriately elevated plasma insulin and C-peptide levels. 10% of insulinomas are malignant. The coexistence of insulinoma with diabetes mellitus is extremely rare with only 20 previously reported cases. This can therefore pose a diagnostic challenge.An 83 year old man, who developed Type 2 diabete...

Context: Polycystic ovary syndrome (PCOS) has been linked to non-alcoholic fatty liver disease (NAFLD) that carries an increased risk of liver cirrhosis. The Enhanced Liver Fibrosis (ELF) score comprises serum hyaluronic acid (HA), procollagen III N-terminal peptide (PIIINP) and tissue inhibitor of metalloproteinase-1 (TIMP1) that correlate with hepatic fibrosis staging.Objective: To determine the effect of vitamin D suppleme...