ESPE Abstracts

Background: In paediatric CNS tumours, germ cell neoplasms usually produce endocrine disorders helping an early diagnosis.Objective and hypotheses: To describe presenting symptoms in paediatric CNS germ cell tumours and endocrine abnormalities on follow-up.Methods: We reviewed the records of children and adolescents aged under 14 who were followed in our unit presenting a CNS germ cell tumour. Endocrine abnormalities at diagnosis a...

Objetives: To analyse clinical and laboratory characteristics of an obese pediatric population.To assess their response to specific program consisting in modification of their nutritional habits and physical activity .Material and Methods: Obese patients completed a year of group therapy with nutritional education and physical activity. We analysed at the beggining and after a year anthropometry an...

Background: The interrelationships between body weight and thyroid status are complex. Serum TSH is typically increased in obese compared with lean individuals. Several mechanisms leading to hyperthyrotropinemia have been hypothesized.Objective and hypotheses: To compare thyroid function and autoimmunity in normal, overweight and obese healthy children and adolescents in our population. To analyse any metabolic risk factor related to hyperthyrotropinemia...

XLH is the commonest inherited form of rickets. Impaired regulation of fibroblast growth factor 23 (FGF23) due to PHEX gene mutation leads to reduced tubular reabsorption of phosphate (TmP/GFR) and 1,25-dihydroxyvitamin D (1,25(OH)2D) synthesis with hypophosphatemia. Patients show rickets and osteomalacia, bone and muscular pain, stunted growth, and reduced quality of life. We report preliminary data on burosumab therapy in a selected sample of Italian patients.<p class="a...

Introduction: The UK 100,000 Genomes Project (100KGP) recently investigated the genetic basis of rare disease using whole genome sequencing. The genetic aetiology of most rare paediatric endocrine disease remains unexplained.Methods: Children with genetically unexplained rare endocrine disease attending a subspecialist paediatric endocrinology clinic underwent whole genome sequencing as part of the 100KGP. Parental DNA w...

Background and Methods: PCOS is common in adolescents and imparts a significant health and economic burden. Yet, our understanding of its complex pathogenesis is lacking. Proteomic analyses would be a valuable tool to deepen our knowledge of the biological pathways which underpin PCOS, and to identify novel biomarkers to diagnose and monitor this common condition. Therefore, we undertook a deep phenotyping discovery proteomic profiling (nano-2D-LC-QTOF MSe) on...

Introduction: Autosomal recessive mutations in the Wolfram syndrome type 1 gene are responsible for the classical Wolfram syndrome (OMIM_ 222300), also known by the acronym "DIDMOAD" (diabetes insipidus, diabetes mellitus (DM), optic atrophy and deafness). The gene encodes wolframin, a membrane glycoprotein, which helps to regulate the calcium homeostasis in the endoplasmic reticulum of many different tissues, including the pancreatic...

Objectives and Study: Insulin-like growth factor I (IGF-I) regulates fetal and infant growth and is influenced by nutrition during infancy. Breast fed children have lower IGF-I levels than formula fed infants and the reason is partly explained by lower levels of protein and higher level of polyunsaturated fatty acids (PUFA) in breast milk compared to formula. Environmental factors, such as nutrition, have long-lasting influences on hormone secretion and on future metabolic hea...

Introduction: Rubenstein-Taybi Syndrome (RSTS)is a rare multiple congenital anomaly syndrome with a prevalence of 1:100,000 to 1:125,000. It is classically characterized by postnatal growth deficiency, microcephaly, learning difficulties, increased risk of tumour formation, broad thumbs and halluces and dysmorphic facial features including highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose, high arched palate and characteri...

Objectives: Heterozygous mutations in the aggrecan gene (ACAN) are associated with idiopathic short stature, with or without advanced bone age (BA), osteochondritis dissecans (OCD) and early onset of severe osteoarthritis (OA). Variable features also include midface hypoplasia, brachydactyly, short thumbs and intervertebral disc degenerative disease.Methods: We reviewed 173 radiographs in 22 individuals (8F:14M), (three shoulders, 10 hands, 10 w...