Endocrine Abstracts

Background: 50% of patients with osteogenesis imperfecta (OI) will have dental involvement of some degree including dentinogenesis imperfecta and a severe malocclusion. OI is the most common inherited disorder of bone fragility in children, increasing fracture risk 100-fold.Aim: To assess the utilisation of tertiary dental services by children and young people with OI attending a supra-regional multidisciplinary OI service and review of the pathology ide...

Introduction Carcinoid heart disease most frequently involves the tricuspid or, more rarely, the pulmonary valve and presents with right heart failure as 5-HT is metabolized by the lung. Left-sided valve involvement is quite rare. We describe our experience of 3 patients presenting with heart failure secondary to carcinoid heart disease affecting all four cardiac valves. There are only four previous isolated case reports in the literature. Methods All th...

A 34-year old lady presented in the postpartum period following her 3rd pregnancy with severe hypertension. Her first two pregnancies were 3 and 5 years previously where she delivered via elective Caesarean section without any complications. During this pregnancy which was a twin pregnancy, her antenatal care was mainly unremarkable but on specific questioning, she reported increased sweating for a period of 4 months. Her blood pressure was noted to be normal during her antena...

Introduction: Hormone-secreting teratomas are well described. However teratomas secreting pancreatic hormones are rare, with even fewer cases producing clinically significant effects. We describe possibly the first documented case of hyperinsulinaemic hypoglycaemia due to an insulin-secreting ovarian teratoma.Case report: A 23-year-old woman presented with transient symptoms of lethargy and weakness. She had used her father’s capillary glucose meter...

Obesity and its consequent metabolic disorders are severe health problems. The mechanistic target of rapamycin complex 1 (mTORC1) pathway is an important hypothalamic integrator of the actions of nutrients and hormones on food intake (FI). Nutrient availability also affects the formation of reactive oxygen species (ROS) in the hypothalamus and regulates neuronal activity. In the present study, we hypothesise that modulation of mTORC1 activity mediates ROS effects on FI. To thi...

Case history: We present the case of a 40-year-old man who was referred to a cardiologist with hypertension. He was initiated on bisoprolol and doxazosin. Investigations revealed elevated urinary metanephrines and catecholamines, with normetadrenaline 7.4 μmol/24 h (normal <2), noradrenaline 820 nmol/24 h (normal <500) but normal dopamine levels. He was referred to our clinic. Two further 24 h urine catecholamine assays were elevated. Dexamethasone suppression tes...

Aims: To look at the demographics, biochemistry, treatments used, clinical characteristics associated with radioiodine (RI) treatment (including those with relapse) for thyrotoxicosis in our Endocrine clinic.Methods: Electronic records of all thyrotoxic patients between 2010 and 2012.Results: 144 patients, mean age 56 years (114 females)–106 Graves, 24 toxic adenoma (TA) and 14 multi nodular goitre (MNG). TPO antibody was posi...

Background: We recently reported the first human mutation in mini-chromosome maintenance homologue 4 (MCM4) in a cohort of patients with adrenal failure. We now report the endocrine phenotype of 14 patients with MCM4 mutations.Methods: Patients case notes were examined and investigations performed to fully assess adrenal function, pubertal development, gonadal function and growth.Results: 13 of 14 patients have developed isolated g...

Introduction: Immobilization hypercalcemia (IH) is more common in children and adolescent due to increased rate of bone turnover and it usually develop 4–6 weeks post trauma but it can begin as early as 2 weeks and as late as six months. We report a patient who developed severer hypercalcemia after sustaining multiple fractures and immobilization.CaseA 24-year-old man was admitted for neurorehabilitation after road traffic acc...

Background: Diabetic Ketoacidosis (DKA) is a well known complication in children with Type 1 Diabetes (T1DM) with a mortality rate estimated at 2%. Sparse data is available from the literature describing socio-demographic factors associated with DKA admissions in children. A previous study identified that children of non-Caucasian race and Medicaid, with T1DM, had increased incidence of DKA admissions.Aims: To identify the socio-demographic factors assoc...