Endocrine Abstracts

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...

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: 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 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: According to NICE: adults receiving GH treatment, IGF1 levels should reach therapeutic range by 9 months. Patients are reviewed at 1, 3, 6, 9, 12 months and 6 months thereafter in our clinics. GH dose is titrated by 0.1 mg each visit. This work aims to compare the time it takes to get the IGF1 in range, between adults and adolescent patients attending our specialist regional clinics.Method: We performed a retrospective audit of 20 patients ...

Introduction: Endocrinopathies can cause secondary osteoporosis and little is known of the extent of this condition in young adults.Methods: In order to assess the bone health in endocrinopathies in young adults, a retrospective analysis of 25 transitional clinic patients who underwent dual energy X-ray absorptiometry (DEXA scan) was made using case notes and the hospital database.Results: Twenty-three patients were male and the me...

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...

Background: Biochemical evidence of adrenal insufficiency (AI) is reported commonly during inhaled corticosteroid (ICS) treatment for asthma. The significance of mildly abnormal results is uncertain. For this reason we adopt a stratified approach to the management of patients with impaired cortisol responses to the low dose short Synacthen test (LDSST): Patients with peak cortisol 350–499 nmol/l (‘suboptimal’) receive hydrocortisone 20 mg/m2 per day d...