ESPE Abstracts

Non-autoimmune hypothyroidism is characterized by high serum TSH level, normal or low thyroid hormones, absence of autoantibodies and normal or hypoplasic in situ thyroid gland. It is known that heterozygous mutations in the TSH receptor gene (TSHR) are associated with partial TSH resistance which clinically ranges from isolated hyperthyrotropinemia to non-autoimmune hypothyroidism. Despite this, an absence of mutations in the TSHR gene has been repo...

Background: Our study aimed to determine the molecular characterization of thyroid nodules and cancer in childhood and investigate the genotype-phenotype relationship.Methods: The pre-postoperative clinical follow-up features and genetic characteristics of 62 patients were evaluated. Next-generation sequencing (NGS) was used to investigate common variants in thyroid lesions with sufficient tissue in the pathology archive...

Background: Thyrotropin receptor (TSH-R) stimulating autoantibodies (TSAb) are present in 95-99% of patients with Graves’ disease (GD). TSAb are functional, impact thyroid function, and are clinically relevant. This study we performed in pediatric patients with dynamic of Graves’ disease before and during methimazole therapy and in a patient with Hashimoto’s thyroiditis (HT) using a novel and ultra-rapid TSAb bioassay.<...

Inflammation is a known feature of Down syndrome (DS) and is caused by a dysregulation between pro and anti-inflammatory cytokines. Hashimoto's thyroiditis (HT) is characterised by a slowly developing persistent inflammation of the thyroid gland which frequently leads to hypothyroidism. In DS children, HT is the most common autoimmune disease ad its prevalence has been reported to be more elevated than that generally seen in age-matched patients without DS: 34% vs 1.3%, r...

Background/aim: Limited studies have delved into the association between thyroid hormones and neurocognition in attention-deficit/hyperactivity disorder (ADHD). We aimed to evaluate the relationship between thyroid hormone levels and neurocognitive functions in patients with ADHD.Method: A total of 146 patients with early-onset ADHD were included in the study. The inclusion criteria for patients with early-onset ADHD wer...

Background and Objectives: MCT8 deficiency is a debilitating, ultra-rare, X-linked disorder resulting from dysfunctional thyroid hormone (TH) transport. A lack of TH in the brain results in profound neurodevelopmental delay while a co-existing excess of TH in tissues outside the brain leads to symptoms of chronic thyrotoxicosis. Tiratricol is a naturally occurring metabolite of triiodothyronine (T3) that clinical trials have shown can restore normal TH signall...