ESPE Abstracts

Background: Disruption of many bone metabolic pathways and reduced bone mass are associated with diabetes mellitus. Increased fracture risk and elevated Dickkopf-1 and sclerostin levels, which are inhibitors of Wnt/β-catenin pathway, have been found in adult T2DM patients, but no relevant data exist on childhood T1DM.Objective and hypotheses: We aimed at studying plasma Dickkopf-1 and sclerostin concentration in children and adolescents with T1DM an...

Background: overexpression of the oncogene Yes-associated protein 1 (YAP1), a Hippo pathway target, associates with increased cell proliferation in some human cancers. There is not data on adrenocortical tumors (ACT). YAP1 is a potential target of Wnt/β-catenin pathway, which plays an important role in ACTs.Objective and hypotheses: to evaluate the role of YAP1 and its interaction with the Wnt/β-catenin pathway in ACT.Met...

Background: 16p11.2 microdeletion is most common chromosomal anomaly associated with syndromic obesity. The presence of a large number of flanking segmental duplications/low-copy repeat sequences with a high degree of sequence identity in the short arm of chromosome 16 (16p) leads to recurrent deletions and duplications as a consequence of non-allelic homologous recombination. A recurrent 600kb microdeletion is one of the most frequent genomic imbalances in 16...

Introduction: McCune Albright Syndrome consists of at least 2 of the following 3 features: (1) polyostotic fibrous dysplasia (PFD), (2) Café au lait macules and (3) autonomous endocrine hyperfunction (eg, gonadotropin-independent precocious puberty). Other endocrine syndromes include hyperthyroidism, acromegaly, and Cushing syndrome.Case: 2 year old girl presented with severe hip pain, inability to walk and progressive deformity of right lower limb....

Background: Post renal transplantation, tubulopathies may occur as an effect of transplantation itself or secondary to the use of immunosuppressive regimes. This often requires administration of large doses of sodium bicarbonate and sodium chloride, resulting in poor compliance. Adult studies have shown the advantages of fludrocortisone in the treatment of severe tubulopathies post renal transplant. There is limited data in children. We report our experience from a tertiary pa...

Background: Stunting in children is a heterogeneous state. Many endocrine, somatic, genetic and chromosomal diseases are accompanied by stunting. It can adversely affect indicators of the final height of the child; therefore timely diagnostics and treatment stunting is very important.Objective and hypotheses: To carry out a retrospective analysis of case histories of children and adolescents with genetically determined types of short stature who admitted...

Introduction: Subcutaneous fat necrosis (SFN) of the newborn is an inflammatory disorder of the adipose tissue that rarely disease which may be complicated with potentially life-threatening hypercalcemia. The etiology of hypercalcemia was related to persistently elevated 1,25-dihydroxyvitamin D3 levels.Case: The case 47 days (length 0.3 SDS; weight −1.48 SDS) who presented sucking difficulty and debility duo to hypercalcemia with an init...

Background: Skeletal dysplasias comprise heterogeneous disorders often characterised by short stature with abnormalities of one or more of epiphysis, metaphysis or diaphysis. Over 200 types of skeletal dysplasias are identified, most of which are autosomal dominantly inherited. Actually, surgery has attempted to correct bone deformities but drug therapy for improving their severe short stature has been rarely attempted.Objective and hypotheses: Administr...

Introduction: CAH is a chronic inherited disease which needs the treatment for the whole life. This situation forms the necessity of a proper patient- doctor relations: not only compliance, but rather informed cooperation. The neonatal screening for CAH allowing the early diagnosis and treatment and availability of internet sources of professional knowledge is the new challenge in the way of education of patients. In Poland there is still observed the dominanc...

Background: Obesity in childhood and adolescence represents a major health problem of our century. In Greece, more than 30-35% of children and adolescents are currently overweight or obese.Objective: To evaluate and further develop the 'National Registry for the Prevention and Management of Overweight and Obesity in Childhood and Adolescence' in order to provide personalized intervention programs for overweig...