ESPE Abstracts

MIRAGE syndrome is characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes and enteropathy. It was established in 2016 as a new syndromic disorder caused by a gain-of-function mutation in the SAMD9 gene, which encodes a protein that suppresses cell proliferation. Due to the poor life prognosis, there are few reports on the long-term survival. Therefore, we herein report the clinical course of a 24-year-old male patient...

Background: Obesity is one of the most frequent chronic diseases in the world, however the true prevalence of obesity in the RF remains at the moment insufficiently studied.Aims: To study the age features of the prevalence obesity in boys in the Udmurt Republic - the region in European part of the Russian Federation with the children population of 335 000.Methods: 4795 boys aged 1–17 years were surveyed, among them 2368 (49.4%...

Background: Insulin Autoimmune Syndrome (IAS) is a rare cause of hyperinsulinemic hypoglycaemia with only few descriptions in children in the literature. Drugs containing the sulfhydryl group, such as methimazol, are known to be a causative factor of this syndrome. Diazoxide and octreotide are usually ineffective in such patients.Objective: We aim to describe a rare case of IAS in a child, with a good response to a short course of glucocorticoid therapy....

Background: A new classification of pseudohypoparathyroidism is available (Thiele et al. 2016, J Endocrinol). The phenotype variability of inactivating PTH/PTHrP Signaling Disorders (iPPSD, former pseudohypoparathyroidism) cases is still very challenging, even for experts. Thus, it is crucial to collect data in a centralized manner for future investigation.Methods: The EuRRECa/EuRR-Bone registries are the first ...

Introduction: The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) was created in collaboration with the European Reference Network on Rare Bone Diseases (ERN BOND) and the European Reference Network on Rare Endocrine Conditions (Endo-ERN) to support the needs of healthcare providers, patients and researchers by providing high-quality registries. The Core Registry collects a set of Core Data Elements as well as longitudinal patient and clin...