8 Result(s)
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Chapter
Hyperinsulinism of Infancy
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Reference Work Entry In depth
Introduction to Endocrine Disorders
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Reference Work Entry In depth
Thyroid Disorders
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Article
Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management
Hyperinsulinaemic hypoglycaemia (HH) is due to the unregulated secretion of insulin from pancreatic β-cells. A rapid diagnosis and appropriate management of these patients is essential to prevent the potential...
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Article
Open AccessCongenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy
Mutations in ABCC8 and KCNJ11 are the most common cause of congenital hyperinsulinism (CHI). Recessive as well as dominant acting ABCC8/KCNJ11 mutations have been described. Diazoxide, which is the first line med...
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Article
Open AccessA novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia
Thiamine-responsive megaloblastic anaemia (TRMA) is a rare syndrome where patients present with early onset diabetes mellitus, megaloblastic anaemia and sensorineural deafness. This report describes a new case...
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Article
Open AccessSirolimus therapy following subtotal pancreatectomy in neonatal hyperinsulinemic hypoglycaemia: a case report
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Article
Open AccessDiagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology
Glucose homeostasis requires appropriate and synchronous coordination of metabolic events and hormonal activities to keep plasma glucose concentrations in a narrow range of 3.5–5.5 mmol/L. Insulin, the only gl...
