ESPE Abstracts

Background: TSH cut-off (CO) levels has been lowered progressively in many screening programs. Nevertheless, population detected with lower CO levels differs in severity and etiology.Objective and hypotheses: To describe the etiological characteristics and severity of children detected by neonatal screening related to CO TSH levels.Method: We analysed the data of congenital hypothyroidism (CH) neonatal screening performed between J...

Background and Aims: The hospitalized neonates requires specialized and multidisciplinary approach and the nutritional follow-up is an essential part of the care. The anthropometry is required to evaluate the nutritional status of patients over time. The main measurements to determine the nutritional status in infants are weight and length. These measures are used to evaluate indexes as length for age, weight for length and body mass index. According to the above, the measurem...

Context: Heterozygous mutations in TSH recepter (TSHR) have been described associated with mild TSH resistance characterized by non autoimmune hyperthyrotropinemia (NAH). The prevalence of this condition varies in different reports.Objective: To determine the prevalence of TSHR variants in pediatric NAH.Subjects and methods: Thirty-five non obese unrelated children with NAH (18 girls, aged 1–19 years) were enrolled. A...

Aim: to assess and follow-up neck circumference and its relationship with a metabolic score in patients with abdominal obesity after a lifestyle intervention.Patients, Material and Methods: 122 children and adolescents with abdominal obesity, aged 7 to 16 years, were included in a control randomized intervention study (NCT031472). Abdominal obesity was diagnosed using the waist circumference. The intervention included an...

Objective: To present a patient with hypercalcemia caused by a parathyroid adenoma and a deletion of the VDR gene.Case clinic: The case is that of a 13-year-old male who presented with hypercalcemia, muscle weakness, nephrocalcinosis, two pathological fractures and a family history of nephrocalcinosis. Physical examination was unremarkable, except the presence of a fracture of the left femur. Laboratory findings: Total s...

Background: Studies about thyroid function following hemithyroidectomy are scarce in the literature and no studies include pediatric population.Objective: To describe thyroid function in pediatric patients who underwent a hemithyroidectomy.Design: Retrospective cohort study.Patients and Methods: Among the 38 patients who underwent hemithyroid...

Introduction: Congenital hypothyroidism (CH) is classified as permanent CH (PCH) if levothyroxine (LT4) is life-long required, or as transient CH (TCH) if after LT4 discontinuation thyroid function remains normal. Early detection of TCH allows early discontinuation of LT4.Purposes: To identify predictors of TCH and PCH, and their cut-off value.Subjects and Methods: Retrospective st...

Background: Paediatric nephrotic syndrome has an estimated incidence of 2 per 100,000 children per year and type 1 diabetes had a reported incidence of 9.5 per 100,000 habitants in Portugal (2018 data). To the best of our knowledge, the simultaneous occurrence of nephrotic syndrome and type 1 diabetes is rare – we found 13 published cases in paediatric age worldwide. Clinical case: A 5-year-old boy with personal history of nephrotic syndrome was admitted ...

Introduction: Type 1 diabetes mellitus (1DM) has well known long term vascular and neuropathic complications. It has also been described a positive effect of good glycemic control on physical growth and pubertal development, achieved with improvement of insulin-therapy.Aim: To evaluate the effect of functional insulin-therapy on final height in children with type 1 diabetes mellitus.Methods: Retrospective analysis of a cohort of po...

Background: Congenital hypothyroidism (CH) comprises a heterogeneous group of disorders that includes diseases of the hypothalamo-hypophyseal system. The latter are missed on TSH based screening programs leading to increased morbidity and mortality. Additional T4 determinations, allows an early detection of CH of central origin (CH-C).Objective and hypotheses: To report the findings of a neonatal screening program based on determination of TSH...