ESPE Abstracts

Iodine is an essential dietary micronutrient required for thyroid hormone synthesis and neurodevelopment in utero. Evidence of iodine insufficiency among British women is of particular concern in the context of pregnancy. The Mothers and Babies at Yorkhill (MABY) study is a Glasgow-based longitudinal cohort study assessing the iodine and thyroid status of pregnant women and their offspring.Pregnant women were recruited from antenatal clinics (20...

Background: Children born small for gestational age (SGA) are at risk for metabolic syndrome (MetS) as adults and show a higher prevalence of MetS components.Objective and hypotheses: To define the association between low birth weight and the presence of MetS in a cohort of obese Italian children and adolescents.Method: The presence of MetS was studied in a cohort of obese (BMI >90th centile) children and adolescents consisting...

Introduction: Studies about pubertal onset and the menarcheal age in girls with the antecedent of idiopathic premature adrenarche (IPA) are limited and with discordant results. For these reasons, we created a cohort of girls with the diagnosis of IPA. The objectives of our study were: a) to know the age of pubertal onset; b) to evaluate menarcheal age; c) to determine the growth rate in the first two years after the IPA diagnosis; d) to collect adult height da...

Results: Total of 47 obese patients (20 females, 39 pubertals, mean age of 14.3 years).±3.2 years) were included in the study. Severe obesity present in 85% of patients, early-onset obesity in 51%, consanguinity among parents in 17%, and at least one parent with obesity in 63.8% were present. 55.3% of the patients had a family history of diabetes, 63% had acanthosis nigricans and 77% had striae. Anthropometric and laboratory ch...

Background: Congenital hyperinsulinism (CHI) is a heterogeneous group of disorders, characterized by hypoglycemia due to inappropriate insulin secretion. Despite huge progress in understanding the pathophysiology of CHI, its etiology remains unknown in about 30% of cases.Aim: To perform whole-exome sequencing in patients with CHI.Results: A total of 314 patients with congenital hyp...

Background: SGPL1 deficiency is associated with a pathological accumulation of sphingolipid intermediates and a multi-systemic condition incorporating primary adrenal insufficiency. Sphingolipid intermediates such as ceramide, sphingosine and sphingosine 1-phosphate are postulated to act as modulators of the steroidogenic pathway, often acting as second messengers altering downstream expression of steroid responsive transcriptional elements. Ceramide and sphin...

Objectives: We aimed to evaluate the performance of waist circumference triglyceride index(WTI) to predict non-alcoholic fatty liver disease(NAFLD) in obese children.Methods: In this study 139 obese children(71 girls) were included(6-18 years). Height, weight, body mass index(BMI), waist circumference(WC), puberty stage, blood pressure, and biochemical values were obtained from the medical records. SDS and percentiles we...

Background: Once-daily growth hormone (GH) therapy is an effective treatment for children with growth hormone deficiency (GHD), but compliance wanes with ongoing treatment. A once -weekly GH, somatrogon (hGH-CTP), is being developed to reduce the treatment burden of daily dosing for children and caregivers and potentially improve compliance and long-term efficacy. The impact of once-weekly somatrogon on long-term safety, local tolerability and immunogenicity w...

Objectives: Type 1 diabetes mellitus (DM) is an autoimmune disease caused by the destruction of pancreatic beta cells. The frequency of Type 1 DM is increasing, and the highest incidence rate is in children under 5 years of age. It is estimated that children under the age of five will develop approximately 70% of the cases under the age of 15, with an increased incidence.In our study, we aimed to evaluate the demographic, clinical an...

Background and aim: Epidemiologic observations suggest that women with type 1 diabetes mellitus (T1DM) often suffer from menstrual cycle disorders. There may also be a negative association between the age of onset of T1DM and the age of menarche. Delayed menarche, in turn, may be associated with increased risk for diabetic complications. The aim of this study was to prospectively investigate pathologic manifestations of reproductive function in young women with T1DM and their ...