ESPE Abstracts

Background: Obesity rates in children and adolescents have increased dramatically across the globe, and the lifelong impact of obesity is more severe when onset begins at ≤20 years of age. However, the experiences, challenges and needs of adolescents living with obesity (ALwO), their caregivers, and the healthcare providers (HCPs) who treat them are poorly understood. ACTION Teens, the first study of its kind, aims to improve the lives of ALwO by generat...

Introduction: An increase in liver enzymes predicts cardiac hypertrophy secondary to increased left ventricular mass in patients with cardiovascular disease. The mechanisms involved include decreased adiponectin concentration and increased epicardial fat in these subjects. We hypothesized that associations between these parameters would also be readily apparent in otherwise healthy children.Objectives: Our objective was ...

At present no European recommendations for the management of pediatric thyroid nodules and differentiated thyroid carcinoma (DTC) exist. Differences in clinical, molecular, and pathological characteristics between pediatric and adult DTC emphasize the need for specific recommendations for the pediatric population. An expert panel was instituted by the executive committee of the European Thyroid Association (ETA) including an international community of experts from a variety of...

Background: Gestational obesity has not only adverse effects on the mothers’ health but also on the developing fetus. Newborns of obese pregnant women have increased birth weight and increased risk for obesity and associated diseases in adulthood. The mechanisms by which maternal nutrition induce these changes in the offspring may involve microRNAs (miRNAs) regulation.Aims and objectives: To study the associations between circulating miRNAs altered ...

Background: miRNAs are valuable circulating biomarkers and therapeutic targets for metabolic diseases. A differential pattern of miRNAs has been described in pregnant women with preeclampsia or gestational diabetes; however, it is unknown whether maternal obesity affects the profile of circulating miRNAs.Aims and objectives: To define the circulating pattern of miRNAs in pregestational and gestational obesity; and to explore their associations with mater...

Background: Idiopathic hypogonadotropic hypogonadism (HH) is highly genetically heterogeneous. To date, about 50 causative genes have been identified, estimated to account for up to 50% of hereditary cases. With next generation sequencing (NGS) technology now in wide clinical use, it is increasingly possible to determine the underlying genetic etiology of isolated and combined pituitary hormone deficiencies.Objective: We...

Background: Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying pathophysiology of this combined neurodegeneration and nHH remains unknown.Patients and methods: We studied a cohort of multiplex families with GHS through autozygosity mapping and whole exome sequencing.Results: We identified patients from three independent families carrying loss-...

Background: Bone involvement is described as a relevant sign in patients suffering Gaucher disease (GD).Objective and hypotheses: To analyze the long-term effect of enzyme replacement therapy on bone mineral density, a retrospective observational study was conducted in a cohort of 34 GD pediatric patients (14 males, 20 females, median age 11.3 years).Method: Lumbar spine (LS) (L2–L4, N: 34) and total body (TB) (N: 24) bone min...

Background: XLH is a rare, genetic, life-long disease caused by PHEX pathogenic variants. It is associated with progressive accumulation of musculoskeletal features and symptoms that evolve across the patient’s lifetime if untreated. Although the disease is well characterised in children and adults, there are limited data describing the health outcomes and experiences of adolescents, particularly at end of skeletal growth (EOSG), a crucial phase during t...

Background: Severe obesity (SO), defined as BMI ≥95th percentile, has increased worldwide among adolescents. American studies estimated that 1.3–2.8% of 12–19-year-old individuals have a BMI >40 kg/m2 or a BMI >35 kg/m2 with at least one serious co-morbidity. The immediate and long-term risks associated with SO in adolescents include cardiovascular and metabolic diseases, obstructive sleep apnoea, and nonalcoholic fatty liver disea...