Endocrine Abstracts

Introduction: Dysregulated glucocorticoid (GC) metabolism has been implicated in the pathogenesis of non-alcoholic fatty liver disease (NAFLD). NAFLD extends from simple steatosis, to inflammation (steatohepatitis/NASH), fibrosis and consequent cirrhosis. It is often regarded as the hepatic manifestation of the metabolic syndrome and is independently associated with increased liver and cardiovascular mortality. Changes in GC metabolism have thus far been described in small num...

Increased secretion of GH results in gigantism in children/adolescents and in acromegaly in adults; the relative roles of the various genetic causes of acromegaly and gigantism are still unclear. To analyse the genetic causes and inherited/familial features in patients with pituitary gigantism, we studied a large international cohort. Genetic or inherited characteristics were observed in 39% of patients and included familial isolated pituitary adenomas (FIPA; n=28), M...

Background: Vascular adhesion protein-1 (VAP-1) is a novel driver of tissue inflammation and fibrosis and may contribute to fibrotic complications of neuroendocrine tumours (NETs). We studied the VAP-1 expression in midgut NETs, which are associated with desmoplasia, and carcinoid heart disease (CHD), a significant complication of metastatic midgut NETs.Methods: Immunohistochemical analysis of paraffin-embedded midgut NETs and CHD valves were stained for...

Background: The focal type of Congenital Hyperinsulinism (CHI) is characterized by a cluster of abnormal insulin over-secreting β-cells within a restricted area of the pancreas. Early identification and intervention of the focal lesion is critical in CHI management, preventing both acute and chronic complications.Objective: The purpose of this study is to review outcomes of treatment response in focal CHI.Design: Retr...

Background: Thymus transplantation is undertaken for conditions associated with severe immunodeficiency. These comprise various genetic and syndromic associations including 22q deletion syndrome, CHARGE association, diabetic embryopathy, and other rarer conditions. Some of these conditions are associated with hypoparathyroidism and therefore hypocalcaemia. There are no established guidelines on the management and prevention of hypocalcaemia during the transplant period.<p ...

Introduction: Hyperinsulinaemic hypoglycaemia (HH) is the most common cause of severe and persistent hypoglycaemia in neonates. The treatment of diazoxide unresponsive HH involves pancreatectomy. Mammalian target of rapamycin (mTOR) is a protein kinase that regulates cellular proliferation. We aimed to evaluate the efficacy of mTOR inhibitor Sirolimus and assess mTOR expression in the pancreas of infants with severe HH.Methods: Four infants with severe, ...

Introduction: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycaemia in infants and children. Histologically there are two subgroups, diffuse and focal. Fluorine-18-L dihydroxyphenylalanine positron emission tomography (18F-DOPA PET/CT) helps to differentiate focal from diffuse CHI.Objective and hypotheses: To evaluate the feasibility of using 18F-DOPA PET/CT for the diagnosis of focal or diffuse CHI u...

Introduction: Refined carbohydrates, which constitute the staple diet in most cultures may exaggerate postprandial responses in term of insulin, free fatty acid and vascular function. These changes may contribute the onset of metabolic syndrome and diabetes among those at high risk of developing these diseases.Objective: To determine the postprandial insulin, free fatty acids levels and endothelial function responses in healthy subjects to two different ...

Introduction: Neuroglycopaenia is recognised with abnormal neurology and development (Ab Dev) in 26–44% of children with persistent congenital hyperinsulinism (P-CHI). The prevalence of Ab Dev in spontaneously resolving CHI (R-CHI) is not known. We aimed to investigate Ab Dev in R-CHI and P-CHI children in a contemporary cohort.Methods: All children (n=67) were assessed for Ab Dev in the domains of speech, language, motor and vision, and cate...

Background: Neuroendocrine tumours (NETs) are a rare and heterogeneous group of neoplasms that mainly originate from the gastroenteropancreatic tract (GEP-NETs). The vast majority of NETs tend to overexpress somatostatin receptors (SSTRs), which can be targeted by somatostatin analogues (SSAs). 68Gallium DOTA SSTR peptide positron emission tracer computed tomography (68Ga PET-CT) has emerged as superior to other imaging modalities in identifying SSTRs. Th...