hrp0095p1-146 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Spectrum of Endocrinopathy in Children with Ectopic Posterior Pituitary (EPP)

Malhotra Neha , Amin Arliena , Cerbone Manuela , Bosch Laura , Tollerfield Sally , Atterbury Abigail , Katugampola Harshini , Dattani Mehul

Introduction: Ectopic posterior pituitary (EPP) is a radiological diagnosis likely caused by a migration defect that occurs during pituitary development. We aim to describe the clinical characteristics and hormonal deficiencies seen in patients with EPP.Method: Longitudinal observational study performed in a single [HK1] [NM2] centre from 1993-2020. As per MRI findings, cases were divided into three cohorts 1) C1: EPP on...

hrp0092p1-282 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Characteristics of 311 Children with Early Onset Pubertal Signs. Descriptive Study

Wichner Paula Sol Ventura , Herrero Xavier , Llorca Maria Laura , Bosch Zelmira , Lacruz Marisa Torres

Aim of our study was to assess clinical characteristics and complementary studies, in patients who consulted the Endocrinology Department of our pediatric hospital, referred by pediatricians to discard precocious puberty.Methodology: it is a descriptive study based on review of medical records, with first consultation between 2010 and 2018. Criteria were developed to assign patients to one of six diagnostic categories based on age, growt...

hrp0098p1-182 | Pituitary, Neuroendocrinology and Puberty 3 | ESPE2024

A description of a national meeting for hypothalamo-pituitary-axis-tumours

Padraig Finn Bryan , Bosch Laura , Morillon Paul , Perelberg Daniel , Cerbone Manuela , Spoudeas Helen , Gan Hoong-Wei

Introduction: Central nervous system tumours are the second most commonly encountered malignancy in children with 35 cases/million/year (1). However, only 10% affect the suprasellar/intrasellar region, which limits experience of such cases in any one centre. Multidisciplinary team meetings (MDT) are a well-recognised approach to obtain expertise beyond a single clinical site. Such meetings are often used to support diagnosis, investigation and management resul...

hrp0092rfc9.4 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Correlation Between Genotype and Phenotype Characteristics in Children with Congenital Hyperinsulinism (CHI) in a Specialist Centre

Bosch Laura , Kallefullah Mohammad Jasmina , Dastamani Antonia , Gilbert Clare , Morgan Kate , Houghton Jayne , Ellard Sian , Flanagan Sarah , Shah Pratik

Introduction and Aim: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycaemia in early infancy and represents a heterogeneous disorder with respect to clinical presentation, histology and genetics. The aim of our study is to review correlation between genotype and phenotypic characteristics of children with CHI.Methods: Retrospective review of CHI patients with positive genetics during the last 8 years...

hrp0089p2-p080 | Diabetes & Insulin P2 | ESPE2018

Betatrophin as a New Biomarker of Type 1 Diabetes Mellitus in Paediatrics

Ara Laura Bosch i , Villalba Adria , Murillo Marta , Fonolleda Mireia , Vazquez Federico , Rodriguez-Fernandez Silvia , Vives-Pi Marta , Bel Joan

Introduction: Type 1 Diabetes Mellitus (DM1) is an autoimmune disease resulting from the destruction of pancreatic β cells. After the diagnosis, up to 80% of patients spontaneously experience partial remission (PR) for months. New biomarkers are being studied, such as the betatrophin protein (ANGPTL8) of unknown function, but which could be involved in the evolution of DM1, in this phase of RP and even used as a therapeutic target.Methods: Observati...