ESPE Abstracts

Background: Type 1 Diabetes (T1D) is a chronic disease resulting from autoimmune destruction of insulin-secreting pancreatic β cells. Viruses are known to play a role in the pathogenesis of T1D. There is no consistent evidence that SARS-CoV-2 induces T1D in children or adults. Nevertheless, evidence suggests that the SARS-CoV-2 affects β cell function, suggesting a role for the virus in the pathogenesis of the disease. It is thus plausible that the e...

Background: Thyroid hormone resistance (THR) is a rare genetic disorder that may be caused by thyroid hormone (TH) cell transporter defects or metabolism defects, but most cases are caused by an inherited mutation in the TH receptor beta (THRB) gene. The reduced responsiveness of target tissues to TH is characterized by elevated TH and a normal or elevated thyroid-stimulating hormone (TSH) level. Differentiating between THR and TSH-producing pituitary...

Background: Increased risk of obesity and cardio-metabolic risk factors were reported in patients with classical congenital adrenal hyperplasia but little is known about adiposity among patients with non-classical congenital adrenal hyperplasia (NCCAH).Aim: To assess the prevalence of overweight, obesity and cardio-metabolic risk factors among NCCAH patients. Methods: A cross-sectional retrospective study of 114 NCCAH patients (93 ...

Background: Data on anthropometric outcomes in patients with non-classical 21-hydroxylase deficiency (NCCAH) are sparse.Objective: To investigate long-term effects of NCCAH on height and weight.Method: A retrospective, cross-sectional study of 105 girls with NCCAH aged 8.4±4.1 years (0.4–18), mean follow-up 11.4±7.5 years. Outcome measures were height, weight and BMI, expressed as standard deviation score (SDS), at d...

Background: Congenital hypothyroidism (CH) occurs in 1:3000–1:4000 newborns. The majority of newborns with CH are detected by routine screening programs and treatment is promptly initiated following confirmatory thyroid function testing. Although early imaging studies do not influence the treatment decision or management, they establish the underlying diagnosis and may distinguish between permanent and transient CH.Objective: To assess the role of e...

Objective: Given a large number of false-positive growth hormone deficiency (GHD) diagnoses from a single GH stimulation test in normal children, two different pharmacological tests, performed on separate days or sequentially, are required. This study aims to assess the reliability and safety of a combined clonidine-arginine stimulation test (CACST).Design: Retrospective, single-center, observational study....

Background: Type 1 diabetes (T1D) contributes to altered lipid profiles and increased cardiovascular disease (CVD) risk. Youth with T1D may have subclinical CVD within the first decade of diagnosis.Objective: To assess risk factors associated with dyslipidemia in young subjects with T1D.Study Design and Methods: A longitudinal and cross-sectional retrospective cohort study was cond...

Background: Turner syndrome (TS) is a genetic disorder caused by X chromosome monosomy (45,X0) or partial absence of the second sex chromosome, with or without mosaicism. An increased frequency of autoimmune diseases and metabolic disorders has been observed in Turner patients.Objective: To compare Turner monosomy to the other X chromosome abnormalities with regards to occurrence of autoimmune diseases and metabolic disorders.Metho...

Objective: To describe clinical manifestations of SARS-CoV-2 infection in children, adolescents, and young adults with established type 1 diabetes and explore the effects of COVID-19 on glycemic control and disease course.Methods: Observational study conducted at three pediatric diabetes clinics in Israel between mid-March-2020 and mid-March-2021. Included were young people with established type 1 diabetes, <30years, ...