ESPE Abstracts

Background: Patients with rare monogenic obesity caused by biallelic variants of genes such as proopiomelanocortin (POMC; including variants in PCSK1) or leptin receptor (LEPR) deficiency, experience hyperphagia (a pathologic, insatiable hunger) and early-onset, severe obesity. This suggests potential increased risk over time of obesity-related comorbidities, including metabolic syndrome, a cluster of conditions associated with increased risk of cardiovascular...

Growth hormone (GH) stimulates insulin like growth factor I (IGF I) release. IGF-I is the standard biomarker for monitoring GH effects during treatment and to achieve optimal long-term safety, and to a limited extent, monitor efficacy in children with GH deficiency (GHD). The IGF I profile during treatment with a long acting GH (LAGH), such as once weekly somapacitan (Novo Nordisk), differs from the daily GH profile by exhibiting larger peaks and troughs over the dosing interv...

Background: Very tall people attract a lot of attention and represent a clinically and genetically heterogenous group of individuals. Identifying the genetic etiology can provide important insights into the molecular mechanisms regulating linear growth.Methods and Results: We studied a three-generation pedigree with several isolated (non-syndromic) tall members by whole exome sequencing; the tallest man had a height of 2...

Background: Puberty onset results from the interplay between genetic and environmental factors. During COVID-19 pandemic, children experienced epidemic-related changes, such as stress, sedentary lifestyle, excessive use of electronic devices, all leading to weight gain.Objective: The aim of our study is to retrospectively evaluate the incidence of premature activation of the hypothalamic-pituitary-gonadal axis, as eviden...

Children diagnosed with adrenocortical tumors (ACT) have variable prognosis depending on disease presentation at diagnosis. Available therapeutic options render excellent outcome for a subset of patients, but limited improvement in the survival of those diagnosed with non-localized/advanced disease. ACT DNA methylation was recently demonstrated to be a robust and independent prognostic biomarker. Aiming to identify potential therapeutic targets for these children, we compared ...

Background: Paediatric obesity is a multifactorial disease characterized by an imbalance between energy intake and expenditure. In rare cases, obesity is caused by underlying medical disorders arising from disruptions in the leptin-melanocortin pathway, which regulates satiety and energy expenditure.Aim: To investigate resting energy expenditure (REE) in relation to body composition in children and adolescents with sever...

Background: In this study, we aimed to investigate the relationship between single-gender Korean references for non-high-density-lipoprotein cholesterol (non-HDL-C) and metabolic syndrome (MetS) in childhood.Methods: A total of 5,742 Korean children aged 10–18 years who participated in a national survey were included. The subjects were classified into three groups based on single-gender non-HDL-C levels as follows: <120 mg/dl (desirable), &#8805...

Background: Biochemical ratios of precursor-to-product urinary steroid metabolites have been proposed as surrogate markers of steroidogenic enzyme activity to aid the differential diagnosis of inborn disorders of steroidogenesis. Using ratios rather than total amounts facilitates analysis of single spot urine samples, more convenient than 24-h urine collections for young children. Previous studies examining the utility of these biochemical ratios have been lim...

Background: Turner syndrome (TS) affects 1:2,500 females and results from complete or partial loss of one of the X chromosomes. Typical traits associated with TS include short stature, primary ovarian insufficiency (POI), autoimmune diseases, and cardiovascular and endocrine disorders. Long-term follow-up is needed from the time of presentation into adult life. Several genetic mechanisms have been proposed to account for the development of TS-associated featur...

Background: Sp7, also known as Osterix (Osx), is a zinc-finger transcription factor, essential for osteoblast differentiation and bone formation. While bone formation is absent in Osx knockout mice, human loss of function mutations lead to impaired bone formation and cause recessive osteogenesis imperfecta, type XII (OMIM 613849 ).Case: The 5-year-old son of non-consanguineous parents presented with multiple long bone fr...