Endocrine Abstracts

Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors. About 30-40% of these tumors are due to e germ-line mutation in one of the 13 main susceptibility genes which include: the tumor-suppressor gene VHL; the proto-oncogene RET; the tumor-suppressor gene Nf1; the genes encoding the four subunits of the succinate dehydrogenase (SDH); the SDHAF2/SDH5 gene that is responsible for the flavination of the SDHA subunit;...

GH therapy has been reported to increase insulin resistance, but overt diabetes is rare. We present a young girl who developed symptoms of diabetes whilst on GH therapy with resolution of symptoms and normalisation of blood glucose profile on reducing the dose of GH.Case report: A 14-year-old girl with background of prematurity, learning difficulty, cerebral palsy, scoliosis, and pan hypopituitarism presented with chest infection, high blood glucose leve...

Introduction: Limbic encephalitis is characterised by seizures, changes in personality and memory impairment. Syndrome of inappropriate antidiuretic hormone secretion (SIADH) associated with autoimmune limbic encephalitis is rare. We present an interesting case.Case: A 57-year-old gentleman presented with seizures and a cardiac arrest. He had a past history of excess alcohol intake and had been taking excess alcohol prior to this event. Physical examinat...

Introduction: Klinefelter’s syndrome (KFS) is associated with an increased risk of certain malignancies; including leukemia, breast cancer and mediastinal germ cell tumours. Testicular tumours are uncommon. Epidermoid cysts are benign tumours of hair-growing areas. Testicular epidermoid cysts are very rare and account for 1–2% of all testicular tumours. We report a rare case of bilateral epidermoid cysts in a patient with Klinefelter’s syndrome.<p class="abs...

Background: There is an increased incidence of Type 1 diabetes in preschool children and the management of diabetes in this group is challenging. Preschool children are dependent on others for all aspects of their care. Normoglycaemia in preschool children reduces the likelihood of acute and chronic complications.Objectives: Our goals were to:1. Outline the demographic characteristics of children diagnosed with diabetes before 5 ye...

Introduction: A case series of three children diagnosed with MODY at a university hospital between November 2015 and May 2018. All of them was found to have HNF1B mutation.Background: HNF1β-MODY (MODY5) is a rare form of monogenic diabetes that is often associated with a wide range of urinary tract anomalies including renal cysts. It’s a dominantly inherited disease including maturity-onset diabetes of the young (MODY), pancreatic insufficiency...

Herein, we report currently a 39-year old male with a 13-year history of asymptomatic hypercalcemia (mean 2.88 mmol/l; reference range 2.15–2.55 mmol/l) and mildly elevated parathyroid hormone (mean 68.7 ng/l; reference range 15–65 ng/l). Initially, in years 2007–2010 his laboratory picture was compatible with the diagnosis of Familial hypocalciuric hypercalcemia (FHH) with calcium-to-creatinine clearance ratio (Ca/Cr) between 0.008–0.009.Genetic testin...

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...

It is well known that primary aldosteronism (PA) is frequently associated with metabolic syndrome. Among possible pathogenic mechanisms, adiponectine gene variants may play a role in the development of metabolic complications especially type two diabetes.Aim of this study was to assess the presence of two single nucleotide polymorphisms of the adiponectin gene (G276T and T45G) in patients with PA and determine their relation to metabolic parameters.<...

Bone mass density and beta cross laps have been recognized as valid tests for the diagnostic and treatment control, as well as fracture prediction for osteoporotic patients. Statin treatment has been reported to be associated with a reduced risk fracture in these patients also. However, no studies, as of our knowledge, have tried to see if adding the lipid profile to the analysis of body mass density would improve the statistical power of prediction for any of the afore mentio...