ESPE Abstracts

Background: Variants in SH2B1 or a 220–kilobase pair distal deletion of chromosome 16p11.2, including SH2B1, are associated with severe, early-onset obesity and hyperphagia. The melanocortin-4 receptor (MC4R) agonist setmelanotide is being investigated in individuals with rare variants in genes in the MC4R pathway.Methods: This ongoing, Phase 2 study (NCT03013543) enrolled individuals aged ≥6...

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...

Introduction: Ox in a dose of 0.03-0.05 mg/kg per day in addition to GH treatment significantly increases adult height in TS more than GH alone. To date, the long term effects of Ox in childhood on bone mineral density (BMD) in adulthood are unknown.Methods: This is a follow-up study of a previous randomized controlled trial, performed in the Netherlands. In the original trial, 133 girls were treated with GH. Placebo (Pl...

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...

Background/objective and hypotheses: Not-brain-related birth body weight (NBBW) relevance to known relationships of birth gestational age (GA) with blood serum IGF binding protein 3 (IB3) was studied in the not-life threatened newborn (NWB).Method: SEX, GA (unit:complete week), postnatal age (PNA; unit:day), birth body weight (BW; unit:g), birth head circumference (HC; unit:cm), BW<10th centile for GA (SGA), caesarean section (CS), predominant oral/e...

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...

Background: Homozygotes for the single nucleotide polymorphisms (SNPs) rs242941 and rs1876828 of the corticotrophin-releasing hormone receptor 1 (CRHR1) gene were previously associated with lower stimulated and basal cortisol levels respectively in asthmatic children on inhaled corticosteroids. Heterozygotes for rs41423247 of the glucocorticoid receptor (NR3C1) gene were found to have higher basal cortisol levels.Objectives</stro...

Introduction: Differenciated thyroid cancer (DTC) is a rare disease in children and adolescents, it concerns approximatively 1.4% of all pediatric malignancies. Papillary thyroid carcinoma (PTC) is the most common subtype of DTC in pediatric as well as in adult with necessity of radio iodine therapy after surgery.Aim: The aim of our study is to evaluate follow up after iodine therapy in childhood patients treated for...

Background: Deficiency of 11β-hydroxylase is the second most frequent type of congenital adrenal hyperplasia and more common in Turkey than other populations.Objective and hypotheses: The purpose of this study is to examine the spectrum of CYP11B1 gene mutations in Turkish population.Method: 17 patients from 13 families are included in this study. Diagnosis was based on virilisation and high levels of 11-deoxycortisol. 15 case...

Objective: Spexin is a novel peptide implicated in food intake and satiety. Spexin levels are reduced in obese patients.Aim: To evaluate the associations of metabolic syndrome (metS) antecedents with serum spexin levels in obese adolescents.Setting: A university- based tertiary care centre.Patients and methods: Eighty consecutive obese adolescents aged 10-18 y and 80 healthy ...