hrp0084p2-278 | Diabetes | ESPE2015

Neonatal Diabetes – Experience from a Single Centre in Sri Lanka

Atapattu Navoda , Vithanage Vasundara , de Silva Kirikankanange Shamya Harshini , de Silva Daham Haresha , Jayathilaka Mala Mangalika , Hattersley Andrew T , Ellard Sian , Flanagan Sarah E , Houghton J A L , Hussain Khalid

Background: Neonatal diabetes (NDM) is a rare form of monogenic diabetes which usually presents before 6 months of age. Both transient and permanent NDM have been described.Objective: To report the molecular genetics and clinical characteristics of patients with NDM from a single centre in Sri Lanka.Method: Retrospective analysis of clinical and molecular genetic data from patients referred to Lady Ridgeway Hospital Endocrinology u...

hrp0094fc4.6 | Diabetes | ESPE2021

Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort

McGlacken-Byrne Sinead M. , Mohammad Jasmina Kallefullah , Conlon Niamh , Gubaeva Diliara , Siersbaek Julie , Jorgen Schou Anders , Demibilek Huseyin , Dastamani Antonia , Houghton Jayne , Brusgaard Klaus , Melikyan Maria , Christesen Henrik , Flanagan Sarah E. , Murphy Nuala P. , Shah Pratik ,

Objective: The complex clinical phenotypes arising from HNF4A and HNF1A mutations are similar and include diazoxide-responsive CHI from infancy and maturity-onset diabetes of the young (MODY) from adolescence. We aimed to characterise the clinical and genetic aspects of a cohort of paediatric patients with HNF4A or HNF1A mutations.Methods: Patients from five international centres over ...

hrp0094p1-25 | Diabetes A | ESPE2021

Longitudinal Auxological Recovery and Reduced Neurodevelopmental Problems in Hyperinsulinaemic Hypoglycaemia

Worth Chris , Hashmi Laila Al , Yau Daphne , Salomon-Estebanez Maria , Perez-Ruiz Diego , Hall Caroline , O’Shea Elaine , Pimlott Helen , Foster Peter , Flanagan Sarah , Cosgrove Karen , Dunne Mark , Banerjee Indraneel ,

Background: Hypoglycaemia due to congenital hyperinsulinism (CHI) is the commonest cause of severe, recurrent hypoglycaemia in childhood. Previous follow up studies have focused on neurodevelopmental status which is noted to be delayed in as many as 48% of cases. There has been less emphasis on other long-term outcomes in patients with CHI. Given the requirement for high volume carbohydrate in most patients, there are concerns regarding the adverse effects on ...

hrp0089p1-p058 | Diabetes & Insulin P1 | ESPE2018

Comprehensive Genetic Testing Shows One in Five Children with Diabetes and Non-Autoimmune Extra-Pancreatic Features Have Monogenic Aetiology

Patel Kashyap A , Colclough Kevin , Nuri Ozbek Mehmet , Yildiz Melek , Guran Tulay , Kocyigit Cemil , Acar Sezer , Siklar Zeynep , Atar Muge , Johnson Matt B , Flanagan Sarah E , Ellard Sian , Mine Cizmecioglu Filiz , Berberoglu Merih , Demir Korcan , Catli Gonul , Bas Serpil , Akcay Teoman , Demirbilek Huseyin , Weedon Michael N , Hattersley Andrew T

Background/Aim: Diabetes with extra-pancreatic features in children can have a monogenic aetiology. Single gene testing is undertaken when children present with the characteristic clinical features suggestive of the underlying aetiology. We aim to assess the utility of comprehensive genetic testing for all monogenic diabetes genes in children with diabetes and any non-autoimmune extra-pancreatic features from a population with a high rate of consanguinity.<p class="abstext...

hrp0086con1.2 | Challenges in the Management of DSD | ESPE2016

Surgical Management of DSD: New Insights

Creighton Sarah

Traditional medical management of children born with atypical genitals includes genital surgery during early childhood. Young children cannot give informed consent and surgery is usually undertaken after a decision made by the multidisciplinary team with parental input. Long-term outcomes are uncertain and there is scanty research supporting the benefits of surgery on physical or mental well-being. Adult patients clearly describe the distress of multiple genital operations dur...

hrp0094p2-320 | Growth and syndromes (to include Turner syndrome) | ESPE2021

An Unusual Case of Gastrointestinal Bleeding; Expecting the Unexpected

Brooke Sarah ,

Introduction: To investigate the association between Turners Syndrome (TS) and Gastrointestingal Stromal tumours (GIST) in a single case study. There is a known link between RASopathies such as TS and solid tumours (gonadoblastoma, neuroblastoma and brain tumours,) however no known link between TS and GIST. The aim is to increase awareness into a rare condition and discuss growth hormone (GH) therapy.Case: An 11-year-old girl with backgr...

hrp0092rfc7.1 | Diabetes and Insulin Session 2 | ESPE2019

Accuracy of Glucose Sensor Estimate of HbA1c in Children with Type 1 Diabetes

Ehtisham Sarah , Adhami Sara

Introduction: Glucose sensor usage is increasing in the paediatric type 1 diabetes population. The sensor downloads can provide valuable information about glycaemic levels over a 90-day period and generate an estimated HbA1c based on the average glucose level.Aim: We aimed to test whether the sensor-estimated HbA1c over 90 days was an accurate prediction of the measured HbA1c and whether its accuracy correlated with perc...

hrp0094p2-154 | Diabetes and insulin | ESPE2021

Neonatal Diabetes Secondary to Isolated Pancreatic Agenesis

Bakhamis Sarah , AlSagheir Afaf ,

Background: Pancreatic agenesis has been reported as a cause of neonatal diabetes. Most commonly it was associated with severe neurodevelopmental problems caused by homozygous mutations in the transcription factor PTF1A. Isolated pancreatic agenesis was related to biallelic mutations in an enhancer located near PTF1A gene, which suggests that the enhancer is tissue specific to the pancreas. PDX1 is another transcription factor gene in which biallelic mutation ...

hrp0092p3-258 | Thyroid | ESPE2019

The Challenge to Treat Neonatal Autoimmune Hyperthyroidism in a Small Preterm

Lignitz Sarah , Coors Detlef , Pohlenz Joachim

Background: The prevalence of hyperthyroidism in pregnancy is about 0.2%, mostly due to Graves disease. Neonatal autoimmune hyperthyroidism caused by the transplacental passage of stimulatory thyrotropin receptor antibodies (TRAB) of the IgG class is a rare disorder. It occurs in only 2% of the neonates of mothers with Graves disease, is transient and associated with high morbidity and mortality rates up to 25%. Antithyroid drugs are the treatment ...

hrp0082p1-d2-28 | Autoimmune Endocrine Disease | ESPE2014

Immune Changes are Observed After Radioiodine Treatment for Hyperthyroidism in Graves’ Disease Patients

Cote-Bigras Sarah , Verreault Jean , Rottembourg Diane

Background: GravesÂ’ disease (GD) involves autoimmunity against TSH receptor (TSHR) bearing cells, leading to hyperthyroidism and often orbitopathy. When hyperthyroidism is treated with radioactive iodine (RAI), exacerbation of the orbital disease can occur.Objective and hypotheses: We hypothesized that RAI has immune effects affecting the balance between auto-reactive T cells and T cells with regulatory properties.Method: We m...