Endocrine Abstracts

Background: Pituitary adenomas are the most common intracranial neoplasm, with a slow-growing, locally invasive phenotype. Some result from syndromes or isolated germ-line mutations, while approximately 60% have no currently identified somatic mutation implicated in tumorigenesis. High throughput technologies such as microarray, RNA sequencing (RNAseq) and next-generation sequencing (NGS, incorporating whole genome- and exome sequencing) have recently been used to identify alt...

Introduction: Severe insulin resistance syndromes are rare syndromes characterized by clinical features like: acanthosis nigricans, ovarian hyper androgenism in post pubertal females: hirsuitism, oligomenorrhea and infertility.Major causes of severe insulin resistance are: i) genetic defects in insulin receptor like type A syndrome, or ii) autoimmune like antibodies to insulin receptor like in type B syndrome or antibodies to insulin itself, iii) congeni...

Background: Germline mutations in the aryl-hydrocarbon receptor interacting protein (AIP) gene have been implicated in the tumorigenesis of patients with familial isolated pituitary adenoma (FIPA). Around 25% of FIPA patients have an identified AIP mutation; in the remainder of FIPA patients, molecular mechanisms involved in pituitary tumorigenesis have yet to be elucidated.Aims: To identify the genes and molecular mechanisms involved i...

Introduction: Hyperinsulinaemic hypoglycaemia (HH) is characterized by dysregulated insulin secretion and is typically associated with reduced fasting tolerance. We aimed to evaluate the clinical and biochemical characteristics of children presenting with postprandial hyperinsulinaemic hypoglycemia.Methods: Retrospective data collection on children who presented with symptomatic postprandial hypoglycaemia. Children with postprandial hypoglycaemia seconda...

Introduction: Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, UCP2 and HNF1A are known to cause CHI. There are two histological subtypes of CHI: diffuse and focal. Apart from the functional channel defect, β-cell hyperplasia has been observed in diffuse CHI. We aimed to understand the gene expression pattern in pancreatic tissue of patients with diffuse CHI when compared to normal cont...

Background: Newborn infants have multiple risk factors for developing hypoglycaemia of which, hyperinsulinism is an important cause of both transient and persistent hyperinsulinaemic hypoglycaemia (HH). It can present in newborns infants at term, preterm and newborns with intrauterine growth retardation (IUGR). There have been no previous reports of HH occurring in twins and triplets.Aims and objectives: We report the occurrence of HH in 4 sets of twins ...

Introduction: The molecular research on rare diseases is limited by the availability of tissue samples that yield good quality RNA. Extraction of RNA from human pancreatic tissues are challenging due the high amount of ribonucleases.Aim: To compare the quality of RNA from fresh frozen (FF) and formalin fixed paraffin embedded (FFPE) human pancreatic samples of patients with congenital hyperinsulinism (CHI).Methods: Tissue samples w...

A 76-year-old man with history of oesophageal carcinoma was successfully treated by surgery and radiotherapy 4 years previously. He presented with anorexia and 4 stones weight loss associated with abdominal discomfort. He was not on any medication. On examination blood pressure 100/60, no peripheral oedema, systemic examination otherwise was unremarkable. Soon after admission, he developed a generalised tonic clonic seizure requiring a Lorazepam and Phenytoin infusion to contr...

Case 1: A 43-year-old man presented with two day history of sudden onset of headache and vomiting associated with diplopia and declining vision in the left eye for a few months. On admission he had a high grade fever. Neurological examination was unremarkable except for left sided blindness and blurred vision in right eye.Initial investigations revealed CRP of 181. CT head reported no haemorrhage or infarct. CSF analysis: WCC 24 (polymorphs 60% lymphocyt...

Background: PHID is a novel syndrome caused by mutations in SLC29A3, which encodes for the nucleoside transporter protein hENT3. It is associated with multiple endocrine manifestations including severe short stature, pubertal delay and pancreatic exocrine insufficiency. Mutations in SLC29A3 have also been linked to H syndrome and familial Rosai Dorfman Disease (RDD). A key feature of these syndromes is persistent inflammation. Currently there is no treatment for ...