ESPE Abstracts

Background: Patients with rare monogenic obesity caused by biallelic variants of genes such as proopiomelanocortin (POMC; including variants in PCSK1) or leptin receptor (LEPR) deficiency, experience hyperphagia (a pathologic, insatiable hunger) and early-onset, severe obesity. This suggests potential increased risk over time of obesity-related comorbidities, including metabolic syndrome, a cluster of conditions associated with increased risk of cardiovascular...

Background: Compared to children without the disease, children with food allergy are stunted, which is positively correlated with the amount of food eliminated and the duration of the diet.Objective: To compare the effect of an elimination diet on growth between children with cow milk allergy and those who are healthy as control subjects.Subjects and Methods: This study was carried...

Hypophosphatasia (HPP) is a rare, inherited, systemic disease characterized by deficient tissue-nonspecific alkaline phosphatase activity. Common manifestations in children include impaired skeletal mineralization, short stature, and reduced physical function. Asfotase alfa is an enzyme replacement therapy approved for treatment of patients of any age with pediatric-onset HPP. The utility of dual X-ray absorptiometry (DXA) as a diagnostic tool or measure of treatment effective...

Background and aims: The physical growth of late preterm infants (LPI) is unknown, to investigate the growth of LPIs to provide the basis for growth evaluation of LPI.Methods: Infants were recruited for a cohort study in Department of Primary Child Health Care, Children’s Hospital, Chongqing Medical University from May 2010 to November 2011. LPI and full term infants (FTI) were compared in terms of weight for age Z-scores (WAZ), length for ...

Background: Simultaneous pancreas kidney transplantation (SPKT) is a standard treatment option for young adults with type I diabetes (T1D) and concurrent renal failure. Despite the long-term immunosuppressive therapy the patients have better glycemic control, normalized renal function and an improved quality of life. Whether this is also reflected in the skeleton is not that clear yet.Methods: Patients were prospectively...

Introduction and aim: Metabolic bone disorders due to calsium and vitamin D deficiency are one of the most frequent extraintestinal symptoms in Celiac disease. In this study it is aimed to evaluate bone mineral density in patients with Celiac disease during diagnose and evaluate the factors related to bone mineral metabolism.Material and Method: The study included 43 children diagnosed as Celiac disease between December 2015 and December 2017. Clinical, ...

Background: Childhood cancer survivors (CCS) are at risk for low bone mineral density (BMD).Objective: Aim of our study was to evaluate the prevalence of low BMD and it’s determinants in a single-center cohort of CCS.Method: One-hundred-eighty-five CCS (103M, 84F) diagnosed with liquid-LT-(n=48), solid-ST-(n=88) and brain tumor-BT-(n=51) at the age of 5.3±3.2 years underwent height, BMI (SDS), T...

Background: Children with metabolic syndrome carry an increased risk for development of type 2 diabetes mellitus (T2DM) and cardiovascular disease (CVD) in adulthood. Patients with rare syndromic obesity, such as Bardet-Biedl syndrome (BBS), experience early-onset, severe obesity, which may convey an increased risk for developing obesity-related comorbidities and metabolic syndrome later in life. In clinical trials, treatment with the melanocortin-4 receptor a...

Context: Premature adrenarche (PA) could pose an increased risk of obesity and metabolic derangements in adolescence and early adulthood. However, little is known about the body composition of children with PA and its association to the development of adverse metabolic outcomes.Aim: To describe the body composition of children with PA and explore the interaction between PA and metabolic syndrome components.<p class="...

Keywords: Achondroplasia, Hypochondroplasia, Dwarfism, Fibroblast growth factor receptor-3.Introduction: Achondroplasia (ACH) and hypochondroplasia (HCH) are the two most common forms of short-limb dwarfism. They are autosomal dominant diseases characterized by a rhizomelic shortening of the limbs, genu varum, trident hands, large head with frontal bossing and hypoplasia of the mid-face. Both ACH and HCH are caused by mi...