Endocrine Abstracts

Introduction: Neonatal diabetes mellitus is a rare condition with an estimated incidence of 1 in 400 000 live births in the UK population. Half of these cases will have permanent neonatal diabetes mellitus (PNDM). We report a homozygous missense mutation (R397L) in the glucokinase (GCK) gene which is associated with PNDM, in an infant from a consanguineous Asian family.Case report: The baby was born with a birth weight of 1.68 kg at 38 weeks gesta...

Introduction: One in 700 children of school age have diabetes. Children spend on average a quarter of their waking lives in school. It is important that children receive adequate support and supervision in school for the effective management of diabetes.Aim: To evaluate the support given by the schools for lunch time insulin injections, from the perspective of parents of children with diabetes.Methods: Questionnaire completed by di...

Introduction: Early onset diabetes mellitus and poor glycaemic control can predispose to various long-term complications. NICE recommends regular assessment starting at 12 years of age to diagnose micro/macro vascular complications and neuropathy for appropriate management. Rare undiagnosed metabolic disorders could pose diagnostic and management challenges. We report an unusual presentation of a rare metabolic disorder in an adolescent with type-1 diabetes mellitus (T1D)....

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: De novo truncating heterozygous mutations in the additional sex combs-like 3 (ASXL3) gene have been implicated to cause Bainbridge-Ropers syndrome (BRPS) characterised by severe developmental delay, feeding problems, short stature and characteristic facial features. We describe, for the first time, a patient with severe short stature secondary to IGF1 deficiency, severe learning difficulties and dysmorphic features due to novel compound heterozygous mutation in <...

Background: Congenital hypopituitarism (CH) is characterised by the deficiency of one or more pituitary hormones and can present alone or in association with complex disorders. Congenital hyperinsulinism (CHI) is a disorder of unregulated insulin secretion despite hypoglycaemia that can occur in isolation or as part of a syndrome. The underlying genetic etiology causing the complex phenotype of CH and CHI is unknown.Patient and Methods: A female baby bor...

Case report: A 9-year-old girl of mixed ethnic origin presented with symptomatic hypercalcaemia with a 3-month history of weight loss and lethargy. Autoimmune hypothyroidism had been diagnosed 10 months previously. Serum vitamin D concentration (11 nmol/l) was low and cholecalciferol 20 000 units daily for 7 days followed by 800 units daily was commenced. One month later, her symptoms worsened and she had developed anaemia and renal impairment. Hypercalcaemia was noted (Corr C...

Introduction: Hypercalcaemia secondary to malignancy is rare in children. PTH-rP secreted by malignant cells increases bone resorption and renal calcium retention causing hypercalcaemia. We report a case of hypercalcaemia refractory to bisphosphonate and corticosteroid therapy, but responsive to treatment with Denosumab.Case report: A 17-year-old boy with epidermolysis bullosa presented with advanced squamous cell carcinoma of the left leg and symptomati...

Introduction: Disorders of sexual development (DSDs) are estimated to occur in 1 in 4500 births. This potentially represents one baby born every other day in the UK. We aim to explore how Mersey foundation and paediatric trainees deal with newborn babies with possible DSD and identify if there is a need for further training in this subject.Methods: An online survey composed of 10 questions was distributed amongst foundation and paediatric trainees in Mer...

Introduction: We present a patient with co-existence of 3β-Hydroxysteroid dehydrogenase type 2 deficiency (HSD3B2) the rarest form of Congenital Adrenal Hyperplasia (CAH) and Bartter Syndrome (hypokalaemic alkalosis secondary to hyperaldosteronism), a unique dual combination of opposing pathologies that has never been reported in the literature.Case Report: A female infant (46XX) born at 34/40 weeks gestation, weighing 2.67 Kg (−1.54 SDS) to n...