ESPE Abstracts

Background: The myokine irisin, is associated with the metabolic and hormonal dysregulation of polycystic ovary syndrome (PCOS) in adult women. Recent studies have shown that circulating irisin levels increase in adult women with PCOS.Objective and hypotheses: The purpose of this study was to determine serum concentrations of irisin in lean adolescents with PCOS and healthy controls and to evaluate correlations with clinical, sonographic and hormonal par...

Background: Beckwith-Wiedemann syndrome (BWS) characterised by a group of clinical abnormalities (macrosomia, macroglossia, neonatal hypoglycaemia, omphalocoele and umbilical hernia) results from dysregulation of imprinted genes due to mosaic paternal uniparental isodisomy (patUPD) of 11p15.5. Its association with tumours of embryonic origin is well documented and screening guidelines largely aim to detect hepatoblastoma and Wilm’s tumours during the first decade of life....

Background: X-linked hypophosphataemic rickets (XLH) is a genetic disorder, characterized by hypophosphatemia and caused by a mutation in the phosphate regulating endopeptidase homolog, X-linked (PHEX) gene which leads to overexpression of fibroblast growth factor 23 (FGF23).1,2 Conventional therapy, supplementation with oral phosphate and vitamin D analogs, does not treat the underlying cause of the disorder and is associated with poor treatment ad...

Vosoritide is a C-type Natriuretic Peptide (CNP) analogue therapy for treatment of achondroplasia. Vosoritide acts on growth plate chondrocytes through the Natriuretic Peptide Receptor-B to stimulate increased endochondral bone growth, leading to increased growth velocity in treated subjects. In Phase II clinical studies, subject blood and urine samples were analyzed to monitor putative bone growth biomarkers including cross-linked C-terminal telopeptides of collagen II (CTxII...

Background: Secreted frizzled-related protein 5 (Sfrp5) is a relatively novel adipokine with anti-inflammatory properties. Recent evidence suggests that it plays a role in obesity and its metabolic complications. However, data on Sfrp5 regulation in relation to obesity in children are scarce.Objective: To investigate the effect of a 1-year personalized, comprehensive, multi-disciplinary, lifestyle intervention program of...

Objective: Pediatric hypertriglyceridemia (HTG), has considerable phenotypic and genotypic variability. We aim ed to describe the clinical and genotypic profile of Indian children presenting with severe HTG.Methods: This retrospective study (January 2022-December 2023) was conducted in children up to 12 years of age. Those presenting with severe HTG (triglycerides >500 mg/dL) were included after exclusion of known sec...

Abstract: Objective: Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease caused by GnRH deficiency and characterized by absent or incomplete puberty with infertility. The identification of the genetic cause in this group of patients through the use of next generation sequencing (NGS) can assist to the clinical management.Methods: Seven GnRH deficient nonrelated Cypriot probands were ...

Introduction: Neuropathy, as a complication of type 1 diabetes (T1D), is a heterogeneous group with chronic polyneuropathy being the most frequent form. Acute mononeuropathy is rare and its pathophysiology has not been elucidated.Purpose: To describe acute mononeuropathy during the course of severe ketoacidosis in an 8-year-old girl diagnosed with T1D.Case report: An 8-year old girl was admitted to the Emergency Department because ...

Introduction: Autoimmune Polyglandular Syndrome Type 1 (APS-1) is a rare autosomal recessive hereditary disorder resulting from a mutation in the AIRE gene. APS-1 is characterized by three classic clinical features: hypoparathyroidism, Addison’s disease and chronic mucocutaneous candidiasis. Additionally to the classic triad, the phenotype of APS-1 includes several endocrine and non-endocrine autoimmune manifestations. Purpose:Topresent a rapid onset and progression of ch...

Introduction: Mutations in hepatocyte nuclear factor 1Β (HNF1B) gene (chromosome 17q12), lead to monogenic diabetes (HNF1B-MODY or MODY5, OMIM 137920) accompanied by multisystem disorders. HNF1B gene encodes HNF1B protein, a member of the homeodomain-containing superfamily of transcription factors, expressed early in embryogenesis, contributing significantly to organogenesis and the function of many systems (kidneys, liver, panc...