ESPE Abstracts

Background: First line treatment for thyrotoxicosis is thionamide (TA) antithyroid drug therapy. The TA used is usually Carbimazole in the UK. TA can be administered in a relatively large 'blocking' dose that prevents endogenous thyroid hormone synthesis, requiring thyroid hormone replacement (block and replace or BR), or in a smaller dose that renders the patient euthyroid (dose titration or DT). The American Thyroid Association (ATA) recommends DT be...

Introduction: Hashimoto's thyroiditis (HT) and Graves' disease (GD) become increasingly common in children's population. Pathogenesis of autoimmune thyroid diseases (AITD) bases on coexistence of genetic predisposition and environmental triggers which finally drive to breakdown of immune tolerance. Many mechanisms in human body moderate process of inflammation. While some of them answer for up-regulation, some agents like B regulatory lymphocytes (...

Background: Pediatric thyroid cancer has characteristics that are distinct from adulthood thyroid cancer. Due to its very low prevalence, little is known about the genetic characteristics of pediatric follicular thyroid cancer (FTC).Methods: We investigated genetic alterations in tumor tissues from 15 patients aged < 20 years (median: 14.3 years; range: 2.4-19.0 years) using multifaceted approaches. Whole-exome seque...

Context: Congenital hypothyroidism from thyroid dysgenesis (CHTD) is mainly a sporadic and non-syndromic condition occurring in 1:4,000 live births. In contrast to rare cases of syndromic monogenic CHTD, non-syndromic (NS) CHTD shows low familial recurrence risk (~2%) and low concordance rate between MZ twins, suggesting a two-hit scenario combining post-zygotic events with either a de novo monogenic mutation or incomplete penetrance of polyg...

Background: Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and is predominantly caused by developmental abnormalities known as thyroid dysgenesis (TD). Several transcription factors have been described in its aetiology, but defects in the known genes only account for a small proportion of cases.Methods: To identify novel genes involved in TD, we performed exome sequencing in 7 unrelated ...

Introduction: Iodide transport in the thyroid is crucial for thyroid hormone synthesis. A homozygous loss-of-function mutation in the SLC26A4gene coding an iodide transporter located at the apical side in the thyroid follicular cells causes Pendred syndrome accompanied with goitrous congenital hypothyroidism (CH) and sensorineural deafness. However, about half of patients with Pendred syndrome demonstrate normal thyroid function. This indicates anothe...