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: Up to 70% of adults living with human immunodeficiency virus (HIV) have excessive weight due to side effects of antiretroviral therapy (ART). Liraglutide is a licenced GLP-1 receptor agonist for the treatment of obesity in adolescents. However, there are no studies on effectiveness and safety of GLP-1 receptor agonists in patients on ART as these patients are excluded from most of the clinical trials. Herein, we present a teenage girl with HIV who developed throm...

Background: Constitutional delay of growth and puberty (CDGP) is the commonest cause of delayed puberty in boys and differentiation of CDGP from other causes of delayed puberty can sometimes be challenging. We report a boy with delayed puberty due to a pituitary adenoma.Case: A 15-year-old boy was referred for endocrinology consultation with concerns regarding short stature and delayed puberty. There was no history or laboratory evidence suggestive of ch...

Introduction: Van Wyk-Grumbach syndrome was first described in 1960 in patients presenting with long standing juvenile hypothyroidism, delayed bone age and precocious puberty. Literature review indicates only few cases reported in males compared to females. We are reporting this case in a male patient who presented with short stature.Case: A 7.25-year-old boy was referred for endocrine opinion due to short stature. He had not grown over the last 18 month...

Introduction: Bedside blood ketone measurement has often been used in the management of diabetic ketoacidosis. However there is no available data on its reliability in the evaluation of hypoglycaemia in children. We aimed to assess the reliability of bedside ketones (beta-hydroxybutyrate (BHB)) in the evaluation of hypoglycaemia in children.Methods: We collected data on 20 children who had paired measurement of bedside and lab BHB at the end of a control...

Introduction: Isolated postprandial hyperinsulinaemic hypoglycaemia (PPHH) in the paediatric age has been exceptionally reported in the literature.Objective: To describe the clinical and biochemical characteristics as well as the management of a cohort of children with isolated PPHH followed at a single tertiary paediatric centre.Subjects and methods: Six children (three males) were collected. The clinical characteristics, diagnosi...

Introduction: Congenital hyperinsulinism (CHI) is a rare genetic disorder that is characterised by persistent hypoglycaemia in infants and children. We are reporting a rare case of diffuse CHI who was also found to have hypopituitarism and several other congenital anomalies. A similar association has not been reported in literature.Case: A female baby was born at 42 weeks gestation with a birth weight of 4.185 kg (1.72 SDS). She suffered shoulder dystoci...

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 the most common cause of persistent hypoglycemia in neonates, infants and children with an incidence of 1/25000-1/50000 live births. HNF4A and HNF1A mutations lead to maturity onset diabetes of the young (MODY 1 and 3 respectively) with a potential for causing CHI in the newborn period. Whilst HNF4A mutations causing CHI is well known, reports on CHI due to HNF1A mutations are very limited.</...

Introduction: Generalised arterial calcification of infancy (GACI) is a rare autosomal-recessive disorder, associated with high mortality rate, due to inactivating mutations in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene that results in arterial stenosis secondary to unregulated hydroxyapatite deposition.Case report: A female baby was born at 34+5 weeks to consanguineous parents with a birth weight of 3.97 kg. Baby was born in ...