hrp0094fc10.5 | Thyroid | ESPE2021

Adjuvant Rituximab – exploratory trial in young people with Graves’ disease

Cheetham Tim , Cole Michael , Abinun Mario , Alalhabadia Amit , Barratt Tim , Kirk Jeremy , Davies Justin , Dimitri Paul , Drake Amanda , Murray Robert , Steele Caroline , Zammitt Nicola , Carnell Sonya , Howell Denise , Prichard Jonathan , Watson Gillian , Matthews John , Pearce Simon ,

Objective: Remission rates in young people with Graves’ hyperthyroidism are 25% or less after a 2-yr course of thionamide antithyroid drug (ATD). Immunomodulatory agents could potentially improve outcome by facilitating immune tolerance. We wanted to explore whether rituximab, a B lymphocyte depleting agent, would increase remission rates when administered with a short course of ATD.Design: This was an investigator-...

hrp0095p1-29 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Don’t forget the bones: incidence and risk factors of Metabolic Bone Disease in a cohort of preterm infants.

Perrone Michela , Casirati Amanda , Stagi Stefano , Paola Roggero , Mosca Fabio

Background and Aim: Metabolic Bone Disease of Prematurity(MBD) is a condition of reduced bone mineral content(BMC) compared to the expected for gestational age(GA). Preterm birth interrupts the physiological process of calcium(Ca) and phosphorus(P) deposition that occurs mostly in the 3rd-trimester of pregnancy, leading to an inadequate bone mineralization during intrauterine life(IUL). After birth, an insufficient intake of Ca and P carries on this alteration...

hrp0089p2-p122 | Diabetes & Insulin P2 | ESPE2018

A Young Type 1 Diabetic with Acute Hemichorea: Rare Central Nervous System Complications

Sng Andrew , Lin Jeremy , Zain Amanda , Lim Yvonne

A 20-year old lady with poorly controlled type 1 diabetes mellitus diagnosed since 9 years old, comorbidities of hyperlipidemia and steatohepatitis as well as a history of smoking, presented with an acute 2-day history of involuntary, writhing movements of her left upper and lower limbs. Physical examination confirmed left mild hemiparesis with hemichorea-athetosis. Emergent MRI brain demonstrated abnormal signal in the right caudate nucleus and lentiform nucleus (low T2W/FLAI...

hrp0086p1-p692 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Access to Medicines in Pediatric Endocrinology and Diabetes in Africa: Insights from the WHO and National Lists of Essential Medicines

Rowlands Amanda , Mukhwana Renson , Dipesalema Joel , Chanoine Jean-Pierre

Background: Access to essential medicines remains suboptimal in Africa. The World Health Organisation (WHO) maintains two non-binding essential medicine lists (EML) (for children and for adults). Individual countries refer to these lists to prepare national EMLs.Objective and hypotheses: To determine which medicines commonly used in pediatric endocrinology and diabetes are included in the WHO and national EMLs in the WHO African region. We hypothesize th...

hrp0082p3-d1-908 | Pituitary | ESPE2014

Macroprolactinoma in Adolescence: a Case Report

Scott Amanda , Velayutham Valli , Campbell Robert , Cuneo Ross , Cotterill Andrew

Background: Prolactinomas are relatively rare during childhood, with an incidence of 0.1 per million. Children with hyperprolactinaemia have widely varied presentations depending on age, sex, and tumour size. Whilst adults typically present with galactorrhoea or hypogonadism, children tend to present with pubertal delay and growth issues.Objective and hypotheses: Poorer surgical outcomes have been reported in children with macroprolactinomas compared to ...

hrp0084fc-lb-6 | Late Breaking Abstracts | ESPE2015

PROP1 Mutations Cause Hypopituitarism by Disrupting the Transition of Pituitary Stem Cells to Differentiation

Millan Maria Ines Perez , Mortensen Amanda , Brinkmeier Michelle , Camper Sally

Background: Congenital multiple pituitary hormone deficiency (MPHD) arises from defects in pituitary development and is sometimes associated with craniofacial abnormalities. Mutations in the transcription factor PROP1 are the most common known genetic cause of the disorder. In this case the course of disease is progressive, and can lead to life threatening adrenal insufficiency.Objective and hypotheses: Our objective is to understand the role of PROP1 in...

hrp0084p2-477 | Growth | ESPE2015

BASIC: Bone Age Study in Children

Cockill Toby , Hewitt Amanda , Wright Neil , Elder Charlotte

Background: Bone age studies require X-ray of the left hand and wrist to assess skeletal maturity. The Tanner-Whitehouse 3 (TW3) scoring method provides an objective framework for calculating bone age and specifies exact placement of the hand. In our service we have noted a number of poor quality films, caused by difficulty with hand placement, e.g. scrunching of the fingers. This compromises the ability to score accurately and in a proportion necessitates re-X-ray, with time,...

hrp0084p3-1174 | Thyroid | ESPE2015

The Impact on Families of Receiving a Diagnosis of Congenital Hypothyroidism

Alvi Sabah , Priestley Julia , Whitehead Amanda , Walker Jenny , Mushtaq Talat

Background: Congenital hypothyroidism (CHT) may be viewed as a relatively easy condition to diagnose and treat. However, for the parents who are contacted with the neonatal screening results the news can be devastating, and the quality of information provided can be very variable.Objective and hypotheses: We aimed to explore the experience of parents at the time of diagnosis, and ascertain how we could improve this.Methods: In asso...

hrp0095p1-46 | Diabetes and Insulin | ESPE2022

The incidence of Type 1 diabetes mellitus has stopped falling and is rising again in Ireland – a preliminary report from the Irish Childhood Diabetes National Register

Roche Edna , McKenna Amanda , Ryder Kerry , Fitzgerald Helen , Hoey Hilary , O'Regan Myra

Introduction and Aim: The Incidence of Type 1 diabetes mellitus (T1DM) varies markedly between populations and over time. Recently a number of high incidence countries, including Ireland, have reported a stabilisation and/or reduction in their T1DM incidence rate (IR) in childhood. Ireland, a high incidence country for T1DM, experienced a dramatic increase in T1DM incidence between 1997 and 2008, a stabilisation in incidence between 2014 and 2018 followed by a...

hrp0082fc13.3 | Thyroid | ESPE2014

Overexpression of Supressor Tumoral PTEN, but not DREAM, was Detected in Multinodular Goiter in Humans

Shinzato Amanda , Lerario Antonio M , Danilovic Debora S , Marui Suemi , Lin Chin J , Trarbach Ericka B

Background: A high proliferative status of thyroid follicular cells and goiter were observed in mutants mice with Pten−/− or Dream overexpression. In humans, patients with Cowden disease have goiters or other thyroid abnormalities associated with germ-line PTEN mutations.Objective and Hypotheses: The aim of this study was to investigate the tissue expression of PTEN and DREAM, as well as germ-line ...