ESPE Abstracts

Background/Aim: X-linked hypophosphatemia (XLH) is a rare disease caused by inactivating mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene, characterized by chronic hypophosphatemia. XLH children present with progressive skeletal deformities (leg bowing, waddling gait, poor growth and disproportional short stature), dental abscesses, and craniosynostosis. Most affected children have been treated so far with multiple dail...

Introduction: Few studies have been published comparing the liquid and tablet formulations of L-T4 in pediatric patients, with a short follow-up period. Both formulations seemed to produce a rapid normalization of thyroid fuction with a tendency of a greater TSH inhibition in children taking the L-T4 liquid drops. The aim of our study is to compare the long-term effectiveness and saftey of both liquid and tablet L-T4 therapy in CH patients up to 3 years old via a multicenter s...

Background: Hashimoto’s thyroiditis (HT) has been linked to papillary cancer in adults but not in children and adolescents. Moreover, there is no agreement on the more appropriate frequency of thyroid ultrasound (TS) in the follow-up of children with HT.Objective and hypotheses: The aim of the study was to investigate the incidence of thyroid nodules and of thyroid cancer in a large group of children and adolescents (567) with HT followed-up for a m...

Background: The replacement therapy with levo-thyroxine (LT4) in congenital hypothyroidism (CH) aims to ensure normal growth and neuropsychological development. Few data are available about the appropriate dose during childhood and early adolescence.Objective and hypotheses: i) To evaluate LT4/kg per day requirement from diagnosis until 12 years of age; ii) to assess any differences in relation to the different etiology of CH as concern...

Background: Primary IGF1 deficiency can result from molecular defects in genes encoding for the GHR, IGF1, STAT5b and ALS. Heterozygous, activating mutations in the STAT3 gene have been recently described in children with severe growth failure associated with a spectrum of early-onset autoimmune disease.Case presentation: We report the molecular diagnosis in two unrelated patients with severe growth failure and IGF1 deficiency: P1, a 3.6 year ol...

Objective: To study the clinical features and gene mutations of neonatal diabetes mellitus (NDM) in Chinese patients.Methods: Patients with clinically diagnosed NDM were subjected to genetic screening by targeted gene capture of the genes associated with glucose metabolism, and followed up.Results: Of the 23 cases of NDM studied, 16 (69.6%) were permanent neonatal diabetes mellitus (PNDM), 6 (26.1%) were transient neonatal diabetes...

Background: Linear growth in patients with congenital hypothyroidism (CH) born in 1970s and 1980s is reported normal.Objective and hypotheses: To evaluate whether the earlier diagnosis and the higher L-T4 starting dose lead to an improvement in growth and pubertal outcome over the last two decades.Method: Two-hundred and fifteen patients with permanent CH born in 1980s and 1990s (age at diagnosis 25.1&#177...

Background: In pediatric practice, as a rule, differential diagnostics between the three main types of diabetes insipidus DI is to be made: central DI, renal DI and physiological polydipsia of infants – the separation of which is extremely important for the prescription of pathogenetic treatment.Objective: To make a differential diagnostics of various forms of DI.Methods: The study involved 14 patients (ten girls and four boys...

Background: Wolfram syndrome (WS) is a monogenic disorder associated with diabetes mellitus (DM), optic atrophy, diabetes insipidus (DI), neurological deterioration and deafness. Growth has been poorly characterised in case series.Objective and hypotheses: To determine growth and prevalence of endocrine disorders, qualify therapies and metabolic outcome for DM, and relationship of cranial MRI findings to clinical findings in children and young people (CY...

Introduction: Post-operative management of fluid and electrolyte imbalance after surgery for pituitary or suprasellar tumors could be challenging. Post-operative course could include diabetes insipidus (DI) (transient or permanent) or a classical triphasic response (initial phase of DI followed by a second phase of transient SIADH and third and final phase of permanent DI). Mainstay of management of SIADH in these patients involves fluid restriction. At times,...