ESPE Abstracts

Introduction: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires appropriate diagnosis and treatment. The most common cause of PAI is congenital adrenal hyperplasia (CAH), but other well-established aetiologies include metabolic and autoimmune disorders, and physical damage. Mutations in more than 30 genes have now been associated with PAI, with considerable biochemical and phenotypic overlap. It is therefore importan...

Background and Aims: A pre-clinical stage of type 1 diabetes (T1D) often precedes by many years the overt clinical symptoms. Diagnosis during this period is often difficult and is based on the presence of specific islet autoantibodies in the subject's blood. First-degree relatives of patients with T1D were tested using the 3 Screen ICA TM ELISA (RSR Ltd) for combined testing for autoantibodies to GAD65 (glutamic acid decarboxylase, 65kDa isoform), ZnT8 (z...

Background: Vitamin D deficiency may be associated with increased risk of metabolic syndrome.Objective and hypotheses: We aimed to assess the relation between 25-hydroxyvitamin D (25(OH) D) with the different metabolic syndrome components in overweight and obese subjects.Method: Ninety eight subjects (≥85th percentile for age and sex) recruited from the Diabetes, Endocrine & Metabolic Paediatrics Unit (DEMPU), Cairo Unive...

Background: Primordial dwarfism (PD) is a phenotype characterized by profound growth retardation and microcephaly that is prenatal in onset. Recently mutations in genes involved in ciliogenesis have been described in patients with primordial dwarfism phenotype. In 2012 mutations in rotatin (RTTN), a protein involved in cilia structure and function, have been described in in individuals with bilateral diffuse polymicrogyria, but not growth failure.Case pr...

Background: The aim of this study was to analyze the impact of the COVID-19 pandemic lockdown on behaviors and subsequent changes in BMI in children from southern Poland.Methods: The study included 206 participants (104 females and 102 males) with a complete analysis of 177 (96 females and 81 males) with a mean age of 12.8 ± 2.6 years admitted to three pediatric endocrinology clinics (Rzeszów, Kraków, and ...

Cancer treatment may result in development of long-term endocrine complications, including growth hormone (GH) deficiency.1 Although extensive and careful monitoring has been carried out to establish the safety profile of GH therapy,2 a relative scarcity of data means that questions persist around its use in survivors of childhood cancer. The effects of GH on growth and metabolism mean that there is a particular interest in whether GH therapy increases th...

Background: Foramen magnum stenosis (FMS) is a life-threatening complication in children with achondroplasia (ACH) which may require cervicomedullary decompression (CMD). There is no evidence if FMS and CMD affects growth in children with ACH.Aim: To evaluate the impact of FSM and CMD surgery on anthropometric measurements in children with ACH.Methods: Sixty-five patients with ACH ...

Background: This study aims to determine the incidence, clinical course and risk factors of hypothyroidism following cardiac catheter (CC) in infants with congenital heart diseases (CHD).Subjects and Methods: This prospective study included 102 patients with CHD, aged ≤ 3 years who underwent CC. Thyroid function tests were evaluated before CC, one day, one week, two weeks and four weeks after the procedure.<p clas...

Background: There is a rise in overweight and obesity among children and adolescents with type 1 diabetes (T1D) in parallel with a rise in the metabolic syndrome (MS) among children and adolescents in general.Objective: The aim of the study was to describe the prevalence and characteristics of the MS in children and adolescents with T1D compared to their healthy counterparts.Design and Sett...

Objective: The overarching hypothesis explored in this research was discerning the relations between the neuro-cognitive accomplishments of adolescents with T1D patients and healthy siblings of similar age, according to the transient glucose excursions, and the quantitative parameters of white matter in specific pathways according to glycaemic control.Research Design and Methods: A case-control study included 12-18 years...