Endocrine Abstracts

Background: Dumping syndrome in infants who have undergone gastrostomy or Nissens fundoplication is a recognised phenomenon. The pathogenesis is possibly due to a bolus feed causing an incretin effect and leading to hyperinsulinaemic hypoglycaemia. Continuous glucose monitoring (CGM) systems have not been used in the past to study this phenomenon. We report CGM findings which are almost identical on three such post surgical infants.Case series 1: a 36-we...

A 71 year old woman presented with visual loss. MR scanning demonstrated a massive invasive pituitary adenoma. She had no features of endocrine dysfunction. 0900hrs cortisol was 278nmol/L. Haemorrhage limited transphenoidal surgery to biopsies. Postoperative CSF leak was repaired 3months later. Histology revealed a corticotroph adenoma on immunostaining.At endocrine follow-up, afternoon cortisol was 645nmol/L, and 875nmol/L fasting, falling after glucago...

Background: Wolfram Syndrome (WFS) is a rare genetic progressive neurodegenerative disorder caused by mutation in the gene encoding Wolframin, a protein located in the endoplasmic reticulum. WFS has an estimated prevalence of 1 in 770 000.The hallmark features are Diabetes Mellitus, Diabetes Insipidus, Optic Atrophy, Deafness(DIDMOAD) and neurodegeneration. Classic WFS1 is inherited in an Autosomal Recessive manner whereas the Non-classic form is Autosomal Dom...

Background: National paediatric diabetes audit (NPDA) provides comparative data for local paediatric diabetes units (PDUs) on key care processes and overall HbA1c. More detailed analysis on other variables affecting HbA1c is undertaken at a national level, but not at an individual PDU level.Objective: To determine the factors influencing glycaemic control (HbA1c levels) in young children and adolescents with Type 1 Diabetes Mellitus (T1DM).<p class="...

Background: Diabetic ketoacidosis (DKA) is a common presentation of newly diagnosed type 1 diabetes (T1DM) in children but increases the disease burden at diagnosis. In UK, average frequency of DKA presentation is reported as 25% with an international variation of 16 to 67%. Data on frequency variations within the UK is limited.Aim: To compare the demographic and clinical characteristics of DKA vs non-DKA presentations in children <16 years at diagno...

The immune dysregulation, polyendocrinopathy and enteropathy, X-linked syndrome (IPEX), is a rare and devastating condition of male infants. Immune mediated diabetes and enteropathy occur before 6 months of age and other manifestations include hypothyroidism, recurrent infections and eczema. In 2001, IPEX was mapped to Xp11, an orthologous region to that for the murine model of T cell dysregulation, scurfy, and mutations in the forkhead transcription factor gene, FOXP3,...

Background: Prader-Willi syndrome (PWS) is a complex genetic disorder caused by lack of expression of paternally inherited imprinted genes on Chr15q11-q13. rhGH has beneficial effects on growth, body composition and development. Starting age, dose titration and monitoring remain controversial.Objective: To study retrospectively children who presented in our multidisciplinary PWS clinic and assess response to rhGH treatment in terms of auxology, IGF1 conc...

We report five cases of hyperthyroidism with complex management issues, which were successfully treated with iopanoic acid prior to thyroidectomy.Three patients (cases 1–3) had Graves’ disease; two developed agranulocytosis on carbimazole and one had uncontrolled severe thyrotoxicosis and poor compliance with treatment. Radioiodine was either declined or contraindicated due to radio-protection issues. All patients were rendered euthyroid with i...

Background and aim: Achondroplasia (ACH) is one of the commonest skeletal dysplasias affecting 1:15 000–1:40 000 live births. The average attained adult height is 131±5.6 cm for men and 124±5.9 cm for women. Previous studies have shown that the use of rhGH may result in transient increase in the growth rate, but there have been no long-term data regarding adult height. We aimed to study a cohort of patients with ACH and other skeletal dysplasias who have been tr...

Introduction: Continuous Subcutaneous Insulin Infusion (CSII) has several advantages over Multiple Daily Injections (MDI) including better hourly delivery and avoidance of injections. However usage of CSII is significantly less in Cystic Fibrosis Related Diabetes (CFRD) compared to type 1 diabetes and published literature on use of CSII in children and adolescents with CFRD is minimal.We report two cases where CSII was used in CFRD resulting in a lower T...