ESPE Abstracts

11-year-old female, admitted in the emergency room due to postprandial hyperglycemia (350 mg/dL) in her father´s glucometer without ketosis or acidosis. She referred one-month evolution of mild symptoms, as polydipsia, polyuria, sporadic abdominal pain and nocturia.She was the first child of non-consanguineous parents, born full term at vaginal delivery with a birth weight of 3760g (90th percentile). Since 5-years-old her weight was betwe...

X-linked hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. It is caused by inactivating mutations in the PHEX gene (phosphate-regulating-endopeptidase-analog, X-linked), leading to increased fibroblastic growth (FGF-23) levels, responsible for the renal phosphate wasting. This results in hyperphosphaturia and hypophosphatemia, and altered bone mineralization, in the absence of vitamin D deficiency. Classical treatment consists on oral supplementatio...

Background: Prevalence of childhood obesity (OB) represents a major public health concern, given the tracking of body weight from childhood to adult age and obesity-related morbidity.Objective: To describe prevalence of overweight (OW) and OB in children at 8 years and investigate relationship with metabolic alterations (lipid profile and insulin resistance).Methods: 485 pregnant mothers recruited between 2004-2007 and 409 children...

Background: Increasing prevalence of obesity requires improvement in current therapeutic approaches. Multidisciplinary lifestyle intervention programs involving both children and their parents are showing promising results.Aim: To compare the efficacy of family-based multidisciplinary program with standard weight loss counseling program in obese children.Methods: The intervention group consisted of 119 obese children with BMI 85 kg...

Introduction: Hyperglycemia is a common event in neonates, frequently associated with specific clinical conditions (sepsis, drugs or intravenous fluids) other than neonatal diabetes. Unusual endocrino-metabolic syndromes must be considered whenever initial studies are inconclusive.Case report: Newborn term female was admitted at the NICU for intrauterine growth restriction with fluxometric changes and low birth weight (1710 g). Gestational history includ...

Currently in Spain, treatment with GH is approved for hospital use with different formulations (JM), multidose vials (VM) and systems with electronic self-injection devices (DE). The long-term treatments, involves the lack of adherence to GH in pediatric patients, it has been estimated a lack of adherence between 5 and 82%. The main objective of this study is to perform a comparative analysis of costs and product loss among the different GH presentations approved in Spain in p...

Introduction: Premature thelarche is considered a benign condition of breast development in prepubertal girls. It usually resolves after a certain period of time.Materials and methods: A 1.5 year old girl was referred to the pediatric Endocrinology department due to breast development which appeared two months prior to the visit.Results: Upon clinical examination the patient had Tanner breast stage M2-3 bilaterally, but otherwise a...

Introduction: Graves’ disease (GD), the main cause of hyperthyroidism in children, is caused by thyrotropin receptor stimulating autoantibodies (TRABs) that activate thyroid hormone synthesis, secretion and thyroid growth. Therapeutic options are anti-thyroid drugs (ATD), 131-I or thyroidectomy. This study reports the experience of a Tertiary Pediatric Endocrinology Unit.Methods: Review of GD patients diagnosed from January/2001 to October/2017. Res...

Background: Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder, which remains a clinical diagnosis. The Netchine-Harbison clinical scoring system (NH-CSS), recently adopted by the first international consensus on SRS, defines SRS with at least 4 of the 6 following criteria: born SGA, postnatal growth retardation, relative macrocephaly at birth, prominent forehead, body asymmetry and early feeding difficulties. It is related to 11p15 ICR1 loss ...

Background: The etiology of short stature is heterogeneous, often encompassing complex genetic disorders of difficult diagnosis. Analysis of chromosomic copy number variants (CNVs) has been demonstrating the important role of these genomic imbalances in population diversity and human disease.Objective and hypotheses: To analyze the frequency and describe novel submicroscopic chromosomal CNVs in a group of patients with short stature of unknown cause....