ESPE Abstracts

Background: Hashimoto’s thyroiditis (HT) has been linked to papillary cancer in adults but not in children and adolescents. Moreover, there is no agreement on the more appropriate frequency of thyroid ultrasound (TS) in the follow-up of children with HT.Objective and hypotheses: The aim of the study was to investigate the incidence of thyroid nodules and of thyroid cancer in a large group of children and adolescents (567) with HT followed-up for a m...

Innervation of the hypothalamic median eminence by Gonadotropin-Releasing Hormone (GnRH) neurons is vital to ensure puberty onset and successful reproduction. However, the molecular and cellular mechanisms underlying median eminence development and pubertal timing are incompletely understood. Here we show that Semaphorin-6A is strongly expressed by median eminence-resident oligodendrocytes positioned adjacent to GnRH neuron projections and fenestrated capillaries, and that Sem...

Background: Turner Syndrome (TS) is a chromosomopathy affecting 1 out of 2000-2500 live births. Although short stature, heart disease and ovarian dysgenesis are the best-known features, patients have variable cognitive impairments. Aim of this study is to analyze the cognitive profile of a cohort of patients enrolled between February 2018-March 2023.Methods: 49 TS patients [Group A: 45, X0 (n=13); Group B: mosai...

Introduction: The placenta is an endocrine organ vital to fetal growth. It has multiple functions: pregnancy maintenance, nutrient and oxygen transport to the fetus, and removal of waste products among other functions. MicroRNAs (miRNAs) and proteins are significant mediators of these functions. A description of their global expression in healthy placenta may increase our understanding of the molecular biological pathways that are important for normal fetal gr...

Context: Abnormal growth and short stature are observed in patients with mitochondrial disease but it is unclear whether there is a relationship between growth, stature and muscle phenotype.Objectives: To examine growth and final height in patients with genetically confirmed mitochondrial disease, to describe growth patterns in the principle underlying genetic subgroups and to establish whether stature is related to disease severity.<p class="abstext...

Background: Donohue syndrome is a rare congenital syndrome of insulin-resistance and abnormal glucose homeostasis, caused by mutations in the insulin receptor (INSR) gene. It is characterized by specific phenotypic and clinical features and the diagnosis is based on clinical, biochemical and genetic criteria.Case reports: We report two siblings with Donohue syndrome with typical dysmorphic features and multiple clinical and biochemical characteristics. G...

Background: Bartter syndrome represents a rare severe condition, autosomal recessive, corresponding to several genes, characterized by an illness of the renal ascending branch of the handle of Henle. Only 15 cases of BSHPT have been communicated, either in publications or orally, but none presented such severe bone manifestation as ours.Objective and hypotheses: To present bone features of two patients suffering from severe BHSPT, so as the therapeutic a...

Background: There is limited information on the ability of demographic or lifestyle factors to predict short term changes in weight status during childhood.Objective and hypotheses: To study the effect of parental (educational level, BMI status and perception of child’s weight status) and childhood factors (eating habits, sedentary behaviour and physical activity), on 1-year BMI increments by the use of BMI, BMI SDS and BMI SDS conditional gain....

Background: A 6-week-old male was admitted for investigation of prolonged jaundice. The pregnancy was unremarkable with a normal at term delivery. The neonatal screening was unremarkable. The boy was born to consanguineous parents of Turkish descent.Objective and hypotheses: At presentation serum levels of thyrotropin, T4 and T3 were low and prolactin slightly elevated. Venous TSH was undetectable low. Central hypothyroidism was dia...

Background: Hereditary hypophosphatemic rickets (HR) is a group of rare diseases with disordered phosphate metabolism. The Norwegian cohort of HR patients has not previously been described.Objective and hypotheses: The aim of the study was to characterize the genotype, phenotype, and complications to treatment in a national cohort of Norwegian children HR.Method: For assessment of genotype, Sanger sequencing of PHEX, FGF23, DMP...