ESPE Abstracts

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...

Background: While the primary function of vitamin D relates to calcium and bone metabolism, it is now recognised that vitamin D is a potent immunomodulator. In vitro, 1,25(OH)2D has been shown to suppress pro-inflammatory cytokines, such as TNF-α and IL6, while up regulating synthesis of anti-inflammatory cytokines, IL10 and IL4. Previous in vitro studies have yielded inconsistent results on the relationship between 25OHD and cytokines in adul...

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...

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...

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...

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 ...

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...

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,...

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...

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 ...