ESPE Abstracts

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) was created in collaboration with the European Reference Network on Rare Endocrine Conditions (Endo-ERN), the European Society for Paediatric Endocrinology and the European Society of Endocrinology to support the needs of the endocrine community.Aim: To describe the patient population and data entered in the EuRRECa Core Registry between June 2...

Background: EuRRECa (European Registries for Rare Endocrine Conditions) is a new project incorporating the development of a core endocrine registry and the development of an e-reporting programme for rare endocrine conditions (e-REC) that are covered within Endo-ERN (https://eurreca.net/e-rec/).Methods: 24 Endo-ERN centres within 12 countries participated in a pilot phase of e-REC...

Background: Registries are of key importance for a centre of expertise. Endo-ERN consists of 71 reference centres (RCs) that cover several groups of rare endocrine conditions within 8 themes (www.endo-ern.eu). It is unclear if awareness, participation and availability of registries is uniform for all conditions within Endo-ERN.Objective: To determine the extent of engagement in registries of Endo-ERN members.<p cl...

Introduction: Benign breast pathology has a frequent onset during puberty-adolescence.Objectives: Differential evaluation of breast echostructure in puberty stage III/V, on Tanner scale, depending on the presence of thyroid autoimmunity and hypovitaminosis D.Method: Assessment of BIRADS score from 2 to 4 in three groups of girls associating premenstrual mastodynia: Group 1 - including patients with chronic autoimmune thyroiditis an...

Introduction: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires appropriate diagnosis and treatment. The most common cause of PAI is congenital adrenal hyperplasia (CAH), but other well-established aetiologies include metabolic and autoimmune disorders, and physical damage. Mutations in more than 30 genes have now been associated with PAI, with considerable biochemical and phenotypic overlap. It is therefore importan...

Aim of the study: Assessment of the incidence of ovarian functional disorders correlated with thyroid disorders appreciated clinically, functional, and echostructural in a group of diabetic female teenagers according to 25-(OH)- vitamin D serum levels.Method: A group of 31 patients with diabetes mellitus and vitamin D deficiency (mean age 16.3 ± 1.3) was studied compared to a control group (43 teenagers) with diabet...

Background: Several somatropin products are available as pen and electronic devices. When administering the last dose from a device, patients may have an insufficient amount of GH remaining for a full dose.Objective and hypotheses: The aim of this analysis was to estimate the potential GH waste per patient with pen devices and the easypod® device, and to quantify the potential economic impact of expected GH waste from patient and health c...

Introduction: The development of the dentomaxillary system in children involves a normal thyroid function. Juvenile hypothyroidism has different complications depending on the congenital or acquired nature of it.Objective: To identify periodontal changes under the conditions of chronic autoimmune thyroiditis and subclinical hypothyroidism.Material and method: The study group comprised 24 young patients, 15 girls and 9 boys (15.2&#1...

Introduction: CFTR-modulating therapy aims to restore CFTR function. It improves lung function and quality of life in CF patients however, its effects on glucose metabolism are not yet well defined.Methodology: Retrospective and longitudinal study.Inclusion criteria: patients with CF genetic diagnosis ≥10 years old on modulator therapy (ivacaftor + lumacaftor or ivacaftor + teza...

Introduction: Type 5 monogenic diabetes is an autosomal dominant disease due to a mutation in HNF1beta gene. This gene is expressed predominantly in kidney and pancreas, thus clinical manifestations are characterised by renal abnormalities and diabetes.Objectives: To review the clinical characteristics of patients who were diagnosed with type 5 monogenic diabetes in the Pediatric Endocrinology Unit of a tertiary referral hospital.<p class="a...