ESPE Abstracts

Background: Secondary pseudohypoaldosteronism (PHA) type 1 is an uncommon salt losing condition of infancy caused by transient resistance of the mineralocorticoid receptors (MR) of the renal tubule to aldosterone. This can be secondary to urinary tract infection (UTI), urinary tract malformation (UTM) or obstructive uropathy. Ninety percent of reported cases present before 3 months and nearly all are under 7 months of age.Objective and hypotheses: The co...

Pseudohypoparathyroidism (PHP) is a disease of rare frequency. There are five subtypes with each having different phenotypes and blood laboratory test results, which depend on gene mutation and hereditary styles. Among them, the most common type is PHP Ia which inherits maternal gene mutation and expresses Albright’s hereditary osteodystrophy (AHO) appearance, hypocalcemia, hyperphosphatemia and serum parathyroid hormone elevation. Another type, pseudo-pseudohypoparathyro...

Background: The prevalence of childhood type 1 diabetes mellitus (T1DM) is increasing and the age at presentation is falling. Late presentation with diabetic ketoacidosis (DKA) is more common in younger children who are at increased risk of cerebral oedema.Objective and hypotheses: To describe the clinical presentation of new onset T1DM to our centre and report time to diagnosis, incidence of DKA, requirement for intensive care and complications.<p c...

Background: Ireland has a high incidence of type 1 diabetes in childhood (16.8/100, 000 per year (1). A small percentage of children with diabetes have maturity onset diabetes of the young (MODY) (2). Establishing the correct diagnosis is critical to optimal therapy and future genetic counselling (3).Objective and hypothesis: To review the cohort of children attending our tertiary diabetes service and describe the clinical features of those where MODY wa...

Objective and hypotheses: A retrospective review of bone morbidity in a contemporary cohort of boys with Duchenne muscular dystrophy (DMD) managed in a Scottish tertiary neuromuscular centre.Method: Clinical details and results of bone surveillance were obtained in 47 boys, aged 9 years (2–16). DXA bone mineral content (BMC) at total body (TB) and lumbar spine (LS) were adjusted for bone area. Fractures were classified based on radiological confirma...

Background: Inappropriate management of illness/stress, accidental or deliberate insulin omission are some of the causes of Diabetes ketoacidosis (DKA) in patients with established diabetes. During illness, patients with type 1 diabetes are advised to monitor for hyperglycaemia and ketosis, maintain fluid intake and if required, to administer supplemental insulin. Previous studies have confirmed that comprehensive diabetes self- management education (DSME) programs on manageme...

Background: Monocarboxylate transporter 8 (MCT8) is a specific transporter of triiodothyronine (T3). MCT8 gene mutations cause a rare X-linked disorder known as Allan–Herndon–Dudley syndrome, characterized by thyroid dysfunction (high T3, low T4, and normal/high TSH) and psychomotor retardation.Case report: A 4-year- and 9-month-old boy, who was already having L-T4 treatment fo...

Introduction: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) is a rare syndrome that presents during early childhood and is associated with high morbidity and mortality. 40-50% of patients have neural crest tumours, most commonly ganglioneuromas or ganglio-neuroblastomas denoted by the suffix ROHHAD(NET) in a subset of patients. Currently, there is no specific diagnostic biomarker available and diagnosis...

Aim: We aimed to investigate the growth potential of pituitary microadenomas and cystic lesions < 10mm in children, and to evaluate how reproducible the measurements were on magnetic resonance imaging (MRI).Design: Retrospective observational study.Methods: 74 children were included < 18 years at first pituitary MRI, and diagnosed with a microadenoma (microadenoma producing ACTH, GH or TSH ...

Loss of function mutations in SGPL1 (sphingosine-1-phosphate lyase) give rise to a multisystemic syndrome with predominating features of primary adrenal insufficiency (PAI) and steroid resistant nephrotic syndrome. Retrospective analysis of our patient cohort and the wider literature also demonstrated primary gonadal insufficiency in a third of male patients with microphallus and bilateral cryptorchidism (all with concomitant adrenal disease and high mortality in infa...