Endocrine Abstracts

Introduction: The hyperinsulinism/hyperammonemia (HI/HA) syndrome is the second most common cause of hyperinsulinemic hypoglycaemia (HH), caused by activating mutations in GLUD1 [which encodes the mitochondrial enzyme glutamate dehydrogenase (GDH)].Methods: We describe phenotypic variations in three patients from 3 non-related families with HI/HA syndrome due to GLUD1 mutation.Results: Patient 1, a 10-year-old Cau...

Introduction: Congenital hyperinsulinism (CHI) is the commonest cause of recurrent and persistent hypoglycaemia during the newborn period. The management of CHI in patients who are unresponsive or do not tolerate diazoxide includes the use of octreotide therapy which is given as a SUBCUTANEOUS injection, three to four times daily. We report a case of persistent CHI successfully treated with once monthly Lanreotide (a long acting somatostatin analogue).<p cla...

Introduction: Congenital hyperinsulinism (CHI) is a rare genetic disorder of unregulated insulin secretion from the pancreatic β-cells leading to severe hypoglycaemia & permanent neurological deficit if not managed appropriately. Kenotic hypoglycaemia (KH), a diagnosis of exclusion, is by far the most common form of hypoglycemia in children between 1–5 years of age characterized by recurrent episodes of hypoglycaemia and ketosis.Aim: To ide...

Introduction: Recently, the factory calibrated FreeStyle Libre (FSL) flash glucose monitoring system has been introduced for use in patients with diabetes mellitus. We assessed the accuracy of FSL compared to the finger prick capillary blood glucose (CBG) over a 2 week period in patients with congenital hyperinsulinism (CHI) and assessed the parents’ experience of using FSL.Methods: About 346 episodes of CBG along with corresponding swipe FSL readin...

Introduction: Delayed detection of short stature can lead to missed opportunities to optimise adult height and failure to diagnose important underlying pathologies. We speculated that children from more deprived communities may be less likely to be diagnosed with growth hormone (GH) deficiency, and that growth outcomes may be poorer in children treated with GH from deprived communities, in light of outcome data from other chronic childhood conditions. We compared the demograph...

Background: Pubertal progression is inhibited in central precocious puberty with the use of gonadotropin releasing hormone (GnRH) analogues. They are usually given every 10 to 12 weeks via an intramuscular depot, but more recently, a 6-monthly preparation has become available for clinical use.Aim: The aim of this project was to evaluate the efficacy and acceptability of 6-monthly triptorelin, a GnRH analogue, at a tertiary children’s hospital.<p...

Introduction: The insulin tolerance test (ITT) and glucagon stimulation test (GST) stimulate the release of both growth hormone (GH) and cortisol. A normal cortisol response is considered to be >500 nmo/l, however there are no robust normative paediatric data. Cortisol results may generate anxiety and further investigations in short children, tested for GH deficiency, with no clinical suggestion of cortisol deficiency.Aim: To describe cortisol respon...