ESPE Abstracts

Introduction: Children with obesity are at higher risk of asthma. It is known the relationship between asthma and obesity in children demonstrated by altered lung function in obese compared to normal weight children. However, few studies have evaluated changes in lung function in obese asthmatic patients undergoing therapy.Objective: The aimwas to evaluate the role of weight gain in the development of spirometry alterati...

Background: Primary hypogonadism in females is characterized by inadequate ovarian function, resulting in insufficient or absent production of estrogens. This case report aims to present a rare case of primary amenorrhea in a female child where bone marrow transplantation (BMT) was performed due to the beta-thalassemia.Case presentation: A 14-year-old girl approached the endocrinology department for evaluation due to del...

Background: Chronic autoimmune thyroiditis (AT) is a leading cause for acquired primary hypothyroidism in children. The prevalence of the AT in pediatric age is lower than in adults - approximately 2%. Familial predisposition is well established, however exact pathophysiologic mechanism is still not known. Since the first signs of Hashimoto thyroiditis are nonspecific and challenging to recognize, also the disease is not associated with pediatric age, the diag...

Background: Type 1 Diabetes Mellitus(T1DM) is a chronic condition where beta cells of the pancreas are unable to make insulin secondary to their autoimmune T-cell mediated destruction. Patients with one autoimmune disease are prone to having others as well. There has been a link found between Type 1 Diabetes, thyroid function and coeliac disease.Objective and hypotheses: The aim of this study is to determine the prevalen...

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...