ESPE Abstracts

Introduction: Osteogenesis imperfecta (OI), is a genetically heterogeneous connective tissue disorder associated with skeletal fragility, deformity, and growth deficiency. Intravenous bisphosphonate therapy is the mainstay of medical treatment of this condition. Given the paucity of data from Asia we sought to evaluate the genetic epidemiology and the response to pamidronate therapy in a cohort of Malaysian patients.Method: Genetic analysis was performed...

Introduction: Thyroid dysfunction may cause a wide range of neurological disorders in children. Hypothyroidism is associated with peripheral nerve demyelination. However, minimal data are available in pediatric population.Purpose: To describe a case of newly diagnosed Hashimoto thyroiditis (HT) suffering acute-onset rapidly progressive peripheral polyneuropathy.Case Report: A 12-ye...

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...

Background/Aims: Since the introduction of Assisted Reproduction Technologies (ART), including classic In Vitro Fertilization (IVF) and Intacytoplasmic Sperm Injection (ICSI), in clinical practice, several studies have addressed concerns regarding the long-term health of the offspring, revealing indications of an adverse cardiometabolic outcome. Proprotein convertase subtilisin/kexin type 9 (PCSK9) circulating level is significantly associated with an increased risk of cardiov...

Background: Obesity in childhood and adolescence represents a major health problem of our century, and accounts for a significant increase in morbidity and mortality in adulthood.Objective and hypotheses: To investigate the effectiveness of a comprehensive and personalized plan of action in the prevention and management of overweight and obesity in childhood and adolescence.Method: 470 children and adolescents (mean age±SEM: 9...

Background: Adenosine deaminase (ADA) deficiency is a systemic metabolic disease that primarily affects the immune system and lymphocyte development, causing a severe combined immunodeficiency (ADA-SCID). However, the accumulation of toxic metabolites occurs in other organs and systems. Since most ADA-SCID patients undergo definitive treatment with Gene Therapy (GT) or allogeneic haematopoietic stem cell transplantation (HSCT), preceded by conditioning (either...

Background: Diazoxide and octreotide are first and second-line of treatment for HH respectively. Long-acting somatostatin analogue (Lanreotide, LA) has been used in adults with neuroendocrine conditions through its effect on somatostatin receptors 2 (SSTR2) and 5 (SSTR5).Objective and hypotheses: (i) To evaluate the efficacy, safety and pharmacokinetics of LA therapy in children with HH. (ii) To determine somatostatin receptor expression on pancreatic al...

Background: Congenital hyperinsulinism (CHI) causes severe hypoglycaemia in children. Diazoxide and daily octreotide injections are first and second-line of treatment for CHI respectively. Diazoxide can cause severe hypertrichosis resulting in parental anxiety and compliance issues.Objective and hypotheses: To evaluate the efficacy, safety and pharmacokinetics of Lanreotide therapy in CHI patients.Method: Patients >6 months of ...

Longitudinal growth is driven by endochondral ossification at the growth plate, where chondrocytes undergo a well-organized cellular differentiation process from stem-like progenitors to rapidly-proliferating transit-amplifying cells and to hypertrophic chondrocytes. Numerous recent studies have demonstrated that epigenetic modifications play a crucial role in human development and childhood growth. For example, Brachydactyly mental retardation syndrome (BDMR) is caused by hap...

This prospective population study focuses on metabolic differences between adolescent patients with polycystic ovary syndrome (PCOS) and age/BMI matched non-PCOS controls recruited by the Centre for Adolescent Medicine and UNESCO Chair on Adolescent Health Care of the First Department of Paediatrics, at the ‘Aghia Sophia’ Children’s Hospital, in Athens, Greece. Bioimpendance is an established non-interventional method for the determination of the body compositio...