ESPE Abstracts

Background: It is critical to understand patient-reported outcomes in pediatric patients enrolled in pediatric weight management (PWM) clinics. Health-related quality of life (HRQoL) is low in children with obesity. Utilizing data from the CANadian Pediatric Weight Management Registry (CANPWR), we examined (1) changes in HRQoL up to 3 years after enrollment in PWM and (2) factors associated with change in HRQoL over time.Methods:...

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 insulin pump has an important contribution to quality of life and individualized insulin therapy. However, studies that observe clinical criteria can sometimes only reveal marginal benefits or minor differences. The use of insulin pump in our country has become recently widespread. Therefore, we aimed to share our clinical experience and to examine the effect of the pump on individual cases.Method: The records o...

Introduction: Maternal thyroid disease is considered as a risk factor for abnormal thyroid function at birth as well as for long-term morbidity in offspring. The potential harmful effects on the neonate had led to the clinical practice of thyroid function assessment in infants born to mothers with thyroid disease during pregnancy, despite well-established newborn screening programs with include congenital hypothyroidism screening. We evaluated the usefulness o...

Background: CFRD is a unique subtype of diabetes mellitus, distinct from type 1 and type 2, harbouring β-cell dysfunction and β-cell loss and insulin resistance. Modulator therapies directly target the underlying defect of CF, modulating or correcting the function of the CFTR gene (mutation-specific). Few studies investigated the effect of modulators on CFRD and glucose metabolism. We performed an observational study on the short-term effects of the ...

Background: The PAX8 gene (Paired box gene 8) is located on the long arm of chromosome 2 (2q12–q14), contains 12 exons and encodes a similarly named PAX8 protein. This protein is a transcription factor which in the thyroid gland is essential for the follicular cells formation and takes part in the expression of the thyroid-specific genes (TG, TPO, and SLC5A5). Variants in the gene have been previously associated with autosomal dominant thyroid dysgenesis...

Background: Obesity in adolescence represents a major health problem of our century owing to its epidemic proportions and the associated morbidity and mortality in adult life. In Greece, 41% of adolescents are overweight or obese.Aim: The aim of our study was to investigate the effectiveness of a comprehensive, multidisciplinary, personalized management plan at reducing the prevalence of overweight and obesity in adolesc...

Osteogenesis imperfecta (OI) is a rare, hereditary bone dysplasia with a broad clinical spectrum that includes skeletal and extra-skeletal manifestations. It is genetically heterogeneous and there are multiple described mutations that explain the clinical variability of this entity and make it difficult to establish a genotype-phenotype correlation.Objectives: To evaluate the clinical and genetic characteristics of the patient with OI.</...

Introduction: Pseudohypoparathyroidism (PHP) is a rare disease, characterized by parathyroid hormone (PTH) resistance and it refers to different mineral disorders of bone metabolism, classified as PHP type 1a (Albright-OHA Hereditary Osteodystrophy), PHP1b and PHP1c (OHA).Four cases reports: Four children were identified as having PHP, being three of them female. PHP was diagnosed at six years of age (three cases) and at...

Introduction: Barakat Syndrome (HDR Syndrome) is characterized by hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R) caused by an autosomal dominant inheritance, being mostly associated to deletions in chromosome 10p14 or mutations in GATA3 gene.Case Report: A 9 years old male was admitted at an emergency complaining of upper and lower limbs pain and contractures that progressed with periodic tetany...