ESPE Abstracts

Background: Intrathyroidal ectopic thymus (IET) represents a relatively rare embryologic anomaly, often discovered incidentally in paediatric patients. The long-term outcome of IET is not completely clear and differentiation from thyroid nodules is crucial to prevent invasive diagnostic procedures and/or unnecessary surgical interventions. This prospective observational study aims to elucidate the clinical characteristics, diagnostic workup, and long-term outc...

Introduction: Congenital hypothyroidism (CH) is one of the most common endocrine disorder in neonates. A minority arises from dyshormonogenesis, an inborn error of thyroid hormone synthesis. Blood tests commonly reveal elevated thyroid-stimulating hormone levels, decreased thyroxine and thyroglobulin may be low or even undetectable. Thyroid ultrasonography could present a normally sized or enlarged gland. Thyroid scans might demonstrate atypical uptake pattern...

Background & aim: Biallelic thyroglobulin (TG) gene variants can cause congenital hypothyroidism (CH), usually presenting with neonatal goiter and permanent in duration. In cases where biallelic truncating TG variants are present, serum TG levels are undetectable, while monoallelic or biallelic missense mutations manifest with circulating TG. Here, we present a case of transient CH resulting from TG deficiency, stemming from compound heterozygosity for a m...

Introduction: The risk of malignancy of pediatric thyroid nodules is determined according to the Bethesda System. Biopsy is performed by fine needle aspiration (FNA) based on ultrasonography (US) patterns. To identify suspicious nodules in adults, the Thyroid Imaging Reporting and Data System (TI-RADS) is widely used; however, its use in pediatrics is less common.Aim: To analyze the usefulness of the Bethesda system and ...

Background: Pathogenic variants in the genes involved in the formation of thyroid tissue and thyroid hormone secretion have been reported to cause congenital hypothyroidism (CH) in some cases.Aim: This study aimed to evaluate the clinical and genetic findings of CH cases thought to be due to genetic variantsMethod: The study included cases whose genetic analysis was performed in ac...

Case report: We describe a 4-year-old girl, born by vaginal delivery after 41 weeks gestational (length: 55 cm, 99thcentile, weight: 4.8 kg, 99th centile). TSH on newborn screen was normal. Evaluated in the first month of life by gastroenterologists for severe constipation required several hospitalizations and investigation by endoscopy, biopsy, and rectal manometry. Constipation was treated by continuous polyethylene glycol administratio...

Introduction: There is a complex and multifaceted relationship between antiepileptic drugs (AEDs) and the neuroendocrine system. Thyroid hormone (TH) sensitivity reflects thyroid homeostasis more comprehensively than serum hormone levels. It is clear whether TH sensitivity is associated with the use of AEDs. In this study, the evaluation of thyroid hormone sensitivity is aimed in euthyroid cases treated with antiepileptic drug therapy. In this study, the evalu...

Introduction: Thyroid nodular disease in paediatric age has a lower prevalence but higher rate of malignancy compared to adults. The most frequent risk factors for thyroid cancer are young age, family history, underlying thyroid disease, previous malignancy, genetic predisposition and radiation exposure.Objectives: Describe the demographics, nodules’ etiology and malignancy characteristics and compare the diagnosti...

PLR-DTC patients defined as having a tumor grossly confined to the thyroid with minimal or no central lymph nodes comprises 40% of all pediatric DTC followed-up in our center. High-invasive molecular alterations (HIMA) have been reported recently in around 57% of these patients with a still not clear explanation on their influence in outcome.Objective: To report the characterization of a small group of PLR-DTC patients who were positive ...