Endocrine Abstracts

Background: Maturity onset diabetes of the young (MODY) is characterized by autosomal dominant inheritance, onset before 25 years of age, absence of β-cell autoimmunity, and sustained pancreatic β-cell function. HNF1A mutations account for 70% of MODY cases. Patients with HNF1A MODY are sensitive to sulfonylureas (SU) and can maintain optimal glycaemic control with SU rather than insulin. We describe 2 siblings from the same family with HNF1A</e...

Background: Childhood obesity is associated with multitude of co-morbidities. Idiopathic intracranial hypertension (IIH) is one of the less common co-morbidities in children and young people. Severe migraine has been postulated as a further association. We report our experience of using topiramate for managing obesity associated IIH and severe persistent migraine.Cases: Case One: A 12 year old boy was referred with morbid obesity, systemic hypertension a...

Introduction: Neonatal diabetes (ND) usually presents before 6 months of age and 50% of cases are transient and 50% permanent with more than 20 known genetic causes. Early recognition and urgent genetic testing are important to enable appropriate, precise treatment. Mutations in KCNJ11 cause ND responsive to glibenclamide, alleviating the need for insulin administration, but there are limited reports of early successful transition.Case: This inf...

Introduction: Congenital hyperinsulinism (CHI) is a rare disease, characterized by an unregulated insulin release, leading to hypoglycaemia. It is the most frequent cause of persistent and severe hypoglycaemia during the neonatal period and early childhood. Mutations in KATP < genes (ABCC8 and KCNJ11), together account for up to 70% of CHI. CHI can either be transient or persistent. Transient CHI tends to resolve spontaneously and is n...

Introduction: B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities and congenital heart defects. We describe for the first time, a novel heterozygous splice site mutation in B3GAT3 contributing to severe short stature, growth hormone (GH) deficiency, recurrent ketotic hypoglycaemia, facial dysmorphism and conge...

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...

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: 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 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...