ESPE Abstracts

We characterised the phenotype of PHP patients at two UK tertiary care centres and investigated phenotype-genotype correlations.Method: Retrospective review of case notes for patients with PHP at two UK tertiary care centres.Results: 55 patients, from 41 kindreds, were identified; 32 with PHP1a, 23 with PHP1b. The PHP1a cohort (56% female, 69% White), currently aged 16.7+/-10.6 years, presented at ...

Background: Reaching a definitive diagnosis in individuals with XY DSD is challenging and the time taken to reach a diagnosis is an important clinical benchmark that has not been sufficiently explored in this group of conditions.Objective: To evaluate the diagnostic process with a focus on the time to diagnosis in children with XY DSD reported via the e-reporting platform (e-REC) of the European Registries for Rare Endoc...

Introduction: Congenital hyperinsulinism (CHI) is a group of rare endocrine disorders characterized by repeated episodes of hypoglycemia caused by an excessive insulin secretion from the pancreas beta cells. The etiopathogenesis, phenotype, treatment, and prognosis of individual CHI cases are variable and not completely described.Aims: To gather and describe clinical and genetic data about CHI cases diagnosed within the large EuRRECa net...

Introduction: The diagnosis and treatment of patients with rare diseases is often difficult as most clinicians do not encounter them. Therefore, centralization and collaboration between centers of expertise is necessary. European Reference Networks (ERN’s) such as RareEndoERN provide a platform for this, with one of its main thematic groups having a specific focus on rare growth and obesity disorders. Genetic obesity encompasses a heterogeneous group of c...

Background: The COVID-19 crisis required paediatric endocrinologists to rapidly adopt telehealth into their clinical practice. Accurate auxology is a cornerstone of paediatric endocrinology care and is needed to monitor growth and guide medication changes. Remote consultations depend upon parent-reported measurements. However, home height measurements are often inaccurate.Aim: We designed a quality improvement study with...

Aims: Although rare, craniopharyngiomas are the commonest suprasellar tumour in childhood. Despite high overall survival, children and young people <19 years with craniopharyngiomas are at risk of multiple relapses and long-term tumour- and treatment-related neuroendocrine, cognitive and visual morbidity. A recent international survey highlighted the considerable variation in management strategies employed for these tumours, and the lack of any evidence- a...

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) project aims to support the needs of the endocrine and bone community by facilitating the collaboration between patients, health care professionals and researchers across Europe and beyond. It is a project funded by the European Union’s health programme and is the affiliated registry of the European Reference Network for Rare Endocrine Conditions (Endo-ERN). It consists of two r...

Introduction: Following the onset of the COVID-19 pandemic in early spring 2020, there was a need to identify the burden of this infection on people with rare endocrine conditions. The European Registries For Rare Endocrine Conditions (EuRRECa) was launched in 2018 in collaboration with Endo-ERN, ESPE and ESE to support the needs of the wider endocrine community. The project consists of an e-reporting (e-REC) platform that allows monthly reporting of new clini...

Birth chest circumference(CC) shows often, like birth gestational age(GA), tight direct relations to birth body weight(BW). However distinct connections of hypoxia/undernutrition with different body structures might be suspected based on brain-, heart- and adrenal-sparing following intrauterine growth restriction and, postnatally, on higher chest size for body mass observed at high altitude. Growth retarded fetuses gestated by hypoxic rats may present increments of blood serum...

Object: To analyze the clinical and genetic characteristics of primary hypoparathyroidism in children from two children's hospitals in China.Methods: This study includes 47 patients (26 males, 21 females), who were diagnosed with primary hypoparathyroidism in Children's Hospital of Zhengzhou University and Children's Hospital of Zhejiang University School of Medicine from January 2015 to November 2022. We ...