ESPE Abstracts

Background: Loss of function mutations of CYP24A1, encoding vitamin D-24-hydroxylase, have been recently identified in idiopathic infantile hypercalcemia (IIH), a rare entity which may lead to severe complications.Objective: We describe a unique neurological presentation in an infant with IHH due to a novel CYP24A1 mutation.Case presentation: The patient was born at term after normal pregnancy to healthy non-consanguineous parents....

Background: GH secretion is affected by duration and quality of sleep. Studies examining the connection between sleep and linear growth have reported conflicting results. Recently, we reported that nutritional supplementation was effective in promoting growth in children. In the present study, we extended our evaluation of the nutritional supplement to assess the association between nutrition, sleep and growth.Objective and hypotheses: To examine whether...

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...

Background: The polyethylene glycol (PEG) method, which utilizes the addition of PEG to precipitate immunoglobulin fractions in order to measure free thyroid stimulating hormone (TSH), has been implemented as a tool for investigating incongruities in TSH measurement.Aim of the study: To investigate the practical application of PEG-TSH testing in pediatric scenarios with a discrepancy between elevated TSH and normal free ...

Context: Synthetic corticosteroids are medications frequently prescribed for a wide range of medical indications. Various preparations differ in their biological effect, mode of administration, potency and duration of action. Comprehensive knowledge is essential in order to prescribe corticosteroids in an efficient yet safe manner.Objectives: To explore pediatricians' practices and attitudes regarding corticosteroid ...

Background: Childhood acute lymphoblastic leukemia (ALL) survivors are at increased risk for endocrine late effects.Objective and hypotheses: To evaluate growth and pubertal patterns in patients diagnosed with childhood ALL and to identify risk factors for impaired growth and puberty.Method: Retrospective chart review with longitudinal assessment of anthropometric measurements and pubertal status of 183 childhood ALL survivors diag...

Background: U.V. radiation exposure is the major environmental risk factor for skin cancers. However, sun avoidance leads to inadequate vitamin D levels which impair bone health. Moreover, numerous studies linked decreased sunlight exposure to non-skin cancer incidence or survival.Objective and hypotheses: To compare sun habits in a cohort of paediatric patients with a history of malignancy to healthy controls. We hypothesized that sun exposure will be d...

Background: Young adults with type 1 diabetes (T1D) are exempt from conscript military service due to risk of severe hypoglycaemia and metabolic compromise. Nevertheless, there are patients who volunteer to military service.Aims and objectives: To evaluate the effect of military service on metabolic control and incidence of acute diabetes complications.Methods: Study design: retrospective, comparative analysis. Data of 145 T1D pati...

Background: The COVID-19 pandemic has tremendous effects on lifestyle that could potentially cause health-related problems. Therefore, extreme preventive measures were taken, including the closure of schools and after school activities. This dramatic alteration in daily routine could lead to adverse consequence of increasing obesity. In this study we aimed to investigate the change in weight status and body composition parameters of children and adolescents du...

Context: Pregnancy and parturition involve a complex interplay between maternal health and that of her offspring. Graves’ disease and its management have been associated with adverse pregnancy, labor and delivery, as well as neonatal outcomes. Adaptation of the hypothalamic-pituitary-thyroid axis can be reflected by measuring thyroid function levels in newborn screening (NBS).Objective: To investigate the character...