ESPE Abstracts

Background: Next-generation sequencing (NGS) technologies have improved our knowledge about the genetic basis of congenital hypothyroidism (CH). The objective of our study was to evaluate the molecular genetic etiology in our primary CH cohort by using the NGS-based panel.Subjects and Methods: The clinical and genetic characteristics of 147 patients (61 female) from 129 unrelated families were evaluated. The patients wer...

Down syndrome (DS) is the most common chromosomal disorder in live births (1/1500-1/700) and caused by a meiotic nondisjunction (trisomy 21). DS is associated with an increased risk of thyroid disorders in addition to other systemic problems. In this study, we aim ed to investigate the thyroid hormone profiles and associated autoimmune diseases in DS.Material and Method: DS patients, aged 0-18 years, who were followed for thyroid problem...