Endocrine Abstracts

Background: Most thyroid nodules are benign therefore, they are commonly only monitored. Only a few studies are available on the natural progression/regression of benign thyroid nodules, and large-scale studies on the subject are non-existent. So we identify factors that affect the size of benign thyroid nodules and to predict the potential nodule size through a model.Methods: Between January 2001 and December 2011, 2,469 benign thyroid nodules (1,564 pa...

The combination of hypoparathyroidism, sensorineural deafness and renal dysplasia, named HDR syndrome, is a rare disease. Heterozygous abnormalities of GATA3 gene are associated with this syndrome. Here we report a novel heterozygous mutation, c.255_256ins4 (GTGC), in GATA3 gene. A 41-year-old man was diagnosed as having idiopathic hypoparathyroidism and has been treated with 1α-hydroxyvitamin D3 and calcium carbonate. Three years later, he had a hearing...

Background: Concomitant thyroid cancer in patients with congenital thyroid dyshormonogesis (TD) is extremely rare and only few cases of differentiated thyroid cancer in patients with TD were reported in literature. We present the first case of anaplastic thyroid cancer (ATC) in woman with TD.Case: A 46-year-old female patient was referred to our hospital for thyroid surgery due to rapid tumor growing and compressive symptoms. The fine needle aspiration r...

Introduction: Non-ketotic hyperglycaemic hyperosmolar (HHNK) coma is rare in children, is associated with high mortality rate. The incidence of this condition is reported to be increasing and considered to be related to increased prevalence in obesity and type 2 diabetes in children. Hyperglycaemic hyperosmolar syndrome (HHS) is rare in children. The pathophysiology and management of HHS is a distinct entity from diabetic ketoacidosis (DKA).Case report: ...

Case: A 77-year-old man was admitted with a pathological fracture of the right femur, which required intramedullary nailing. He had previously been diagnosed with Paget’s disease affecting the right femur and also hyperparathyroidism with a large parathyroid adenoma on Sestamibi scan which had been managed at another hospital. On this admission, his corrected calcium was 2.79 (2.15–2.55) mmol/l, PTH 643 (15–65) pg/ml and alkaline phosphatase 258 (30–130) U/...

Introduction: Infants born to mothers on antenatal steroid medication may develop adrenal suppression postnatally which can be potentially life-threatening. However, the incidence is unknown and screening for at risk infants is not universal.Aim: The aim of our study was to review the outcome of infants born to mothers on antenatal steroids.Method: We retrospectively reviewed our neonatal “paediatric alerts” for mothers o...

Introduction: The IGF1-receptor (IGF1R) gene is located on the distal long arm of chromosome 15 (bands q26.3). Short stature due to mutation or deletion of IGF1R gene is rare. Mutation of this gene is better known compared to deletion as a cause of growth hormone resistance. We report a girl with pre and postnatal growth failure with chromosome 15q deletion and 16q duplication.Case report: Our patient was born at term weighing 2.7 kg (2nd centile). She w...

Abundant evidence has demonstrated that long-term cytokine-mediated inflammation is a risk factor for obesity and type 2 diabetes mellitus. In this study, we focused on investigating the putative involvement of Th2-derived cytokine, interleukin-4 (IL-4), in energy metabolism. Mice were i.p. injected with adenovirus containing full-length IL-4 gene, or with recombinant mouse IL-4 every other day for 8 weeks. Effects of IL-4 on energy metabolism in insulin-target cells and blood...

Background: Measurement of urinary cortisol is commonly used in the investigation of suspected Cushing’s Syndrome and is most often performed using immunoassay. This approach exhibits significant assay variability necessitating the use of method specific reference ranges. A reference range for cortisol nmol/L: creatinine mmol/L ratio is reported based on the results from 104 early morning urine samples collected from healthy individuals and analysed using the AutoDelfia A...

BackgroundSerum testosterone remains the most important investigation in the diagnosis of androgen deficiency in men. Most of the circulating testosterone is bound to albumin and sex hormone binding globulin (SHBG), whereas free testosterone accounts for approximately 2% of total testosterone. Because direct measurement of free testosterone is impractical in routine practice, several equations have been used to provide clinically useful estimates of free...