ESPE Abstracts

Background: Neurofibromatosis type 1(NF1) is an autosomal dominant genetic disorder caused by NF1 mutation. The condition is typified by the development of benign and malignant tumours in both the central nervous system and peripheral tissues. We present two siblings diagnosed with NF1 who presented at an early age with isolated menarche.Case Presentation: Sibling 1 – A 7-year-old patient w...

Introduction: Beckwith-Wiedemann syndrome (BWS) is a multisystem imprinting disorder. Approximately 50% of patients with BWS develop congenital hyperinsulinism (CHI). In this report, we describe the main clinical features in a group of patients with BWS and CHI.Study: Clinical and laboratory data was collected from all patients with BWS under the care of endocrine units at Alder Hey Children’s Hospital (Liverpool, UK) and Endocrine Research Centre (...

Background: Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant condition characterized by osteoporosis, acro-osteolysis, short stature and specific craniofacial features and is caused by mutations in the NOTCH2 gene which codes for a single-pass transmembrane protein that plays a critical role in skeletal development and bone remodelling. Syringomyelia has been reported in 5 of 75 reported cases of HCS worldwide. The mechanism for t...

Background: Trisomy 21 is associated with dysregulated pituitary thyroid axis with higher TSH and lower FT4 than controls. This may be due to genomic imbalance from trisomy of chromosome 21. Transient congenital hypothyroidism (CH) in newborns is recognised in association with maternal thyroperoxidase (TPO) antibody positivity. ‘Thyroid hormone resistance’ in infancy in CH is also been described.Objective and hypotheses: We report an...

Background: There are published recommendations for neonates to avoid exposure to iodine. Iodine is trapped by the thyroid gland from the blood stream and used for the synthesis of thyroid hormones. Any excess is excreted almost entirely in the urine. Acute kidney injury, especially anuria places infants at risk of toxicity when exposed to iodine and paradoxical hypothyroidism can occur (Wolff–Chaikoff effect). Hypothyroidism of sufficient severity to seriously put the br...

Background: 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 (β-hydroxybutyrate, BHB) in the evaluation of hypoglycaemia in children.Objective and hypotheses: To assess reliability of bedside ketone measurement in a clinical setting of hypoglycaemia...

Background: Glycogen-storage disease type VI (GSD VI) is an autosomal recessive disorder due to deficiency of the liver isoform of phosphorylase resulting in abnormal accumulation of glycogen. Patients typically present in early childhood with growth retardation, hepatomegaly, hypoglycaemia and ketosis. Ketotic hypoglycaemia is a relatively common diagnosis (of exclusion) in children presenting with hypoglycaemia.Case: A 3-year-old girl presented with an...

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 (1.72SDS). She suffered shoulder dystocia...

Introduction: Turner’s syndrome (TS) is caused by an abnormality of one of the X chromosomes. Short stature or slow growth is one of the first manifestations of TS and it is recommended that GH therapy should be initiated as soon as it becomes apparent that affected girls are not growing normally to optimise final adult height. Idiopathic intracranial hypertension (IIH) is a well-known side effect of GH therapy, and it has also been reported in girls with TS with or witho...

Introduction: Mutations in Insulin Receptor (INSR) is usually associated with insulin resistance and hyperglycemia. Homozygous or compound heterozygous mutations in INSR are usually linked with Rabson-Mendenhall or Donohue syndromes whilst heterozygous INSR mutations are associated with type A insulin resistance. Various autosomal dominant heterozygous INSR mutations leading to hyperinsulinemic hypoglycemia (HH) have been de...