ESPE Abstracts

Introduction: Numerous genetic defects have been identified in relation to congenital hypothyroidism (CH). In recent years, with the increased accessibility of molecular genetic analysis, CH etiology is better understood. We evaluated patients followed with a diagnosis of CH who were diagnosed using next-generation sequencing analysis.Methods: The study included 19 cases (10 females,52.6%). Patients with thyroid gland <e...

Flash glucose monitoring is now included in the Portfolio of Services of the Public Health System of Andalusia in Spain. We enrolled 145 paediatric T1D diabetes patients into a prospective, interventional study of the impact of the FreeStyle Libre system on HbA1c levels in this population, as well as additional measures of glycemic health, such as Time in Range (TIR) and Time Below Range (TBR). Subjects were trained in use of the FreeStyle Libre system at the start of the stud...

Background: Patients with HP have stunting of various degree of expression but the most pronounced stunting is found in patients with Russell-Silver syndrome, Sekkel syndrome and Cornelius de Lange syndrome which is associated with disorders in the hypothalamus – hypophyseal system (somatostatin - GH).Objective and hypotheses: To study secretion of somatostatin and insulin-like growth factor (IGF-1, IGFBP-3) in various forms of hereditary pathologie...

Aim: Hypophosphatemic rickets (HR) is a rare renal phosphate wasting disorder commonly related to X-linked form, caused by PHEX mutations and it treatment and follow-up is challenging due to imperfect treatment options. Here we presented nationwide data on HR with initial and follow-up data on the patients presented to the pediatric endocrinology clinics before the age of 18 years.Results: From 24 centers, 158 patients (93 male/65 female) were i...

Results: Total of 47 obese patients (20 females, 39 pubertals, mean age of 14.3 years).±3.2 years) were included in the study. Severe obesity present in 85% of patients, early-onset obesity in 51%, consanguinity among parents in 17%, and at least one parent with obesity in 63.8% were present. 55.3% of the patients had a family history of diabetes, 63% had acanthosis nigricans and 77% had striae. Anthropometric and laboratory ch...

Objectives: To examine age at presentation and outcome in children diagnosed with 21-hydroxylase deficient congenital adrenal hyperplasia (21-OHD CAH) in Algeria in the absence of a national neonatal screening program.Design: Retrospective analysis of patients followed in a single centre from 2007 to 2017. The diagnosis of CAH was established on clinical and biochemical grounds ± genetic analysis.Results: Of 168 patients (114F...

Introduction: Klotho is an anti-aging protein that reduces adiposity and increases caloric expenditure, among others. Although associations between secreted α-Klotho levels and obesity have been described, its relationship with central obesity and visceral fat accumulation during childhood is poorly understood. Our objective was to study the longitudinal associations between serum α-Klotho concentrations and obesity parameters in apparently healthy...

Introduction: The most common non-metabolic complication of insulin pump therapy is set occlusion, and the literature on factors associated with occlusion is limited. This study aims to investigate the factors influencing set occlusion.Methods: A total of 52 patients with type 1 diabetes using insulin pumps were included in the study. A 36-item questionnaire related to set occlusion was administered to the healthcare per...

Introduction: Hypothyroidism without treatment usually leads to delayed puberty in pediatric patients, sometimes it may rarely lead Van Wyk Grumbach syndrome (VWGS) which is characterized by isosexual precocious puberty. Exact mechanism of VWSG is unknown. High thyroid stimulating hormone (TSH) levels may directly effect on follicular stimulating hormone (FSH) receptors and lead precocious puberty. Interestingly simple thyroid hormone replacement therapy resolves symptoms in t...

Background: Ireland has a high incidence of type 1 diabetes in childhood (16.8/100, 000 per year (1). A small percentage of children with diabetes have maturity onset diabetes of the young (MODY) (2). Establishing the correct diagnosis is critical to optimal therapy and future genetic counselling (3).Objective and hypothesis: To review the cohort of children attending our tertiary diabetes service and describe the clinical features of those where MODY wa...