ESPE Abstracts

Background: Differentiated thyroid carcinoma has an incidence of 15.2 per 100 000 in adolescents. The clinical challenge is identifying nodules requiring further intervention. Current modalities, in isolation, have poor ability to reliably differentiate benign from malignant nodules.Objective and hypotheses: To derive and validate a predictive score that integrates clinical, laboratory, radiological and cytopathological parameters to define malignancy ri...

Introduction: The results of the phase III clinical trial that evaluated the efficacy and safety of the biosimilar recombinant human GH - rhGH - (Omnitrope®, Sandoz) on the treatment of Spanish children with GH deficiency were published in 2011. At the end of the study those patients that were still growing remained on treatment within the usual clinical practice.Objective: To know the values of adult height of the children who participat...

Background: Treatment of growth hormone deficiency (GHD) requires daily injections over multiple years. Novel technologies facilitate this by automating the injection process – thereby adding comfort and reducing anxiety. An always-connected device, enabled by mobile technologies, also facilitates the collection of injection data such that adherence information is available to healthcare professionals (HCPs) in real-time. In developing new solutions, it ...

Objectives: Previous studies have described impaired growth in HIV-infected children. Many of them showed weight and height improve after ART initiation Most series include children from resource limited settings in which malnutrition is frequent and treatment is not fully available. We aim to characterize long-term growth in a cohort of HIV-infected children after ART initiation and to identify determinant factors.Methods</stron...

Introduction: Type 5 monogenic diabetes is an autosomal dominant disease due to a mutation in HNF1beta gene. This gene is expressed predominantly in kidney and pancreas, thus clinical manifestations are characterised by renal abnormalities and diabetes.Objectives: To review the clinical characteristics of patients who were diagnosed with type 5 monogenic diabetes in the Pediatric Endocrinology Unit of a tertiary referral hospital.<p class="a...

Introduction: Idiopathic intracranial hypertension (IIH) is a rare entity in childhood. It is characterized by signs and symptoms of increased intracranial pressure with normal neurological examination (except for possible paresis of the sixth cranial nerve), cerebrospinal fluid study and neuroimaging. The association between HII and treatment with growth hormone (GH) was first described in 1993 by the Food and Drug Administration and it has later been demonstrated. Incidence ...

Introduction: Ovarian stimulation syndrome (OSS) in an infrequent disorder, in preterm infants under 30 weeks gestation. The are very few cases described in the literature. The immaturity, lack of gonadal axis feed-back or mutations in the FSH receptor genes, may explain its physiopathology. We present the case of a 26-week neonate with this syndrome.Case summary: 26-week newborn with extremely low weight (460g) born by emergency cesarean section due to ...

Introduction: The Immune Thrombocytopenic Purpura (ITP) and Graves Disease (GD) have in common an autoinmune physiopathology. ITP is characterized by a platelet count less than 100 × 106/l in the absence of other cause. On one hand, ITP has been associated with thyroid dysfunction, without developing GD. On the other hand, GD might develop with moderate thrombocytopenia, generally more than 100×109/l. It is described that in most cases ITP might...

Background: Beckwith–Wiedemann Syndrome (BWS) is a clinical and genetically heterogeneous entity encompassing overgrowth and variable manifestations. Early diagnosis of BWS is crucial due to the increased risk for developing embryonal malignancies (mainly below 5 years of age).Objective: We aimed to screen the presence of underdiagnosed BWS among ‘non-syndromic’ obese children.Method: We studied 159 children (95 male...

Background: The central melanocortin system is highly involved in the control of energy metabolism, receiving and integrating numerous metabolic signals, such as leptin, and biallelic mutations in several genes of the pathway have been reported in severe obesity. However, whether and how heterozygous rare sequence variants (hetRSVs) in genes of this satiety pathway contribute to the development of obesity is poorly explored.Objec...