ESPE Abstracts

Background: Although multiple imprinting defects have been found by genetic analysis in a subset of patients with Beckwith–Wiedemann Syndrome (BWS), very few patients have been described with both genetic and clinical signs and symptoms of multiple diseases caused by imprinting defects.Methods: Methylation analysis of the KCNQ1OT1 gene was performed by Southern blot, methylation analysis of the GNAS region was done by MLPA.<p class="abs...

Background: ROHHADNET syndrome affects children with normal development until 2–4 years of age.Objective and hypotheses: Aim of this study was to evaluate a possible role of autoimmunity in this disorder. In spite of a suspicion for genetic etiology, disease-associated genetic variations have not been identified. A paraneoplastic/autoimmune etiology has been suggested mainly because of the association with neural crest tumors....

Introduction: Salt wasting is a potentially life-threatening condition in the newborn period. Other than 21 OH-CAH other rarer adrenal causes should be considered in the differential diagnosisObjective: To report the laboratory, clinical features, management and genotype of a series of consecutive patients who showed up at our Center for a salt wasting syndrome in the last 32 years, excluding patients with 21 OH CAH....

Background: Insulin degludec (IDeg; Tresiba®) is a novel basal insulin with an ultra-long, flat and stable action profile. In adults, it provides a more consistent glucose-lowering effect and lower rates of hypoglycaemia than glargine (IGlar). Data on children and adolescents are scarce.Objective and hypotheses: To assess efficacy of IDeg among children and adolescents affected by type 1 diabetes (T1DM) previously on IGlar.Met...

Background: Short stature caused by point mutations or deletions of the short stature homeobox (SHOX) gene (SHOX haploinsufficiency, SHI) is a registered indication for growth hormone (GH) treatment. Patients with a SHOX enhancer deletion (SED) have a similar phenotype, but their response to GH is unknown. It is uncertain if duplications of SHOX or its enhancer (SDUP) can cause short stature.Objective and hypotheses: To describe the clinical characterist...

Background: Heterozygous pathogenic variants in the ACAN gene underlie disproportionate short stature with characteristically accelerated bone age (BA) maturation and/or osteochondritis dissecans (OD)/early-onset osteoarthritis (OA).Objective: To describe the phenotypic spectrum and assess the response and safety of growth hormone (GH) treatment in children with a heterozygous pathogenic ACAN variant.</...

Introduction: Hashimoto’s thyroiditis (HT) is one of the most common autoimmune diseases in childhood. Despite its frequency, there are still controversies concerning the spontaneous evolution and presentation in childhood. Aim and methods: this is a retrospective study aiming to evaluate clinical and hormonal features at diagnosis and auxological parameters after 3 years in subjects with Severe Autoimmune Hypothyroidism (SAH). We defined severe hypothyr...

At type 1 diabetes (T1D) onset, international guidelines reccommend a starting subcutaneous insulin dose widely ranging from 0,5 to 1 u/kg/day. In fact, many factors such as age, pubertal stage and the severity of ketoacidosis, may influence insulin sensitivity. However, it is a common experience that many subjects may require a higher insulin daily dose than expected, with the subsequent need of longer time to achieve stable blood glucose values and the extension of days of h...

Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) or autoimmune polyendocrinopathy type 1 (APS-1) is a rare monogenic autosomal recessive disease due to pathogenic variants in the AIRE gene. APECED usually begins during early childhood with chronic mucocutaneous candidiasis (CMC), followed by hypopathyroidism (HP) and Addison’s disease (AD); however, other endocrine and non-endocrine components may occur with a different prevalen...

Background: Growth hormone (GH) has been shown to reduce insulin sensitivity in Turner girls, however a compensatory increase of insulin secretion by pancreatic beta cells usually occurs, probably stimulated by GH itself. Oral disposition index (ODI) express the capacity of beta cells to adapt to insulin sensitivity.Objective and hypotheses: To study longitudinally the insulin sensitivity (HOMA-S), the insulin secretion (IGI) and the ODI in a group of gi...