ESPE Abstracts

Background: The use of insulin pumps is rapidly spreading within the paediatric T1D community. A few small studies have promoted pump usage, while large registries have shown almost no advantage of this treatment.Objectives: Compare the results of treatment with insulin pump (‘Pump’) with insulin injections (‘Inj’) in a large cohort of children with T1D in field conditions.Patients: We studied 3137 children of t...

Background: Methylmalonic acidemia (MMA) is an inborn error of metabolism affecting the catabolism of essential amino acids: valine, isoleucine, methionine, and threonine. A great problem in these children is that of a growth abnormality with progressive slowing of the statural growth rate, in contrast with a normal or even accelerated weight gain. These abnormalities are accompanied by bone demineralization and muscle hypotonia.Objective and hypotheses:...

Background: Chemerin, a protein mainly synthesized in the adipose tissue and liver, belongs to the adipokines family and is implicated in signaling for adipocyte differentiation and lipolysis. From this point of view, chemerin can exert an important role in the regulation of various pathophysiological functions, including lipogenesis and metabolism.Objective: The aim of this study was to investigate the relationship betw...

Aim: The objective of the study was to determine bone mineralisation density in Turner syndrome (TS) from DSD life cohort, and to analyse the trabecular (lumbar spine = LS) and cortical bone (femoral neck = FN) mineralisation.Materials and Methods: This study was part of the DSD-LIFE study, a cross-sectional clinical outcome study of the BMD of TS adult patients from paediatric cohorts. BMD of the LS and FN were ...

Abnormal bone development is commonly seen in children with chronic disease. However, fragility fractures in the young individual may be less common compared to older adults, which may be due to under recognition. The underlying chronic condition and medication can impact on bone turnover, modelling, bone mineral homeostasis, growth, pubertal development and muscle mass. The diagnosis and management of osteoporosis in children and adolescents with chronic disease remains conte...

Background: Ovarian sex differentiation network involves a panoply of interacting factors. Yet, no single sex-determining factor has been identified to be an equivalent of SRY or SOX9 in the testis. Recently, data suggested CBX2 as a pioneer regulator promoting testis development. In addition to its implication in ovary pathway differentiation which remains unclear.Objective and hypotheses: To deepen our understanding of the regulatory network that under...

Background: Children and adolescents with chronic disease are at risk of developing bone fragility. In particular, low bone mineral density (BMD) is increasingly recognized in pediatric patients with glucocorticoid treated rheumatic disease. The purpose of this study was to evaluate the clinical characteristics of children and adolescents with systemic lupus erythematosus (SLE), and to analyze the factors associated with a lower BMD in these patients.<p cl...

Background: It is well known that growth hormone (GH) brings about several effects, involving bone, body composition, lipids and glucose homeostasis. However, the complex interplay between these parameters is rather poorly studied in children with childhood-onset-GH deficiency (CO-GHD).Objective and hypotheses: To investigate lipids, adipokines (leptin- adiponectin- resistin) and glucose homeostasis and their relationship with bone and body composition i...

Introduction: Fanconi anemia (FA) is a very rare, complex and chronic genetic disorder. The diagnosis is most often made at pediatric age. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for bone marrow failure. FA on its own as well as its treatment can affect the endocrine system. We report the case of a child followed for 12 years after HSCT for FA.Observation: A patient has been followed since the age of...

Abstract: The development of endocrine disorders after complex treatment of medulloblastoma is out of doubt. Much less attention is paid to the study of metabolic changes in the outcome of treatment. In our clinic, we examined 63 patients (40 males/23 females) after the complex therapy of medulloblastoma (surgery, craniospinal radiation therapy and chemotherapy). Patients had a median age (range) of 11.3 (5.5÷17.9) years. They were treated for medulloblas...