ESPE Yearbook of Paediatric Endocrinology

Brief summary: Over the recent years several publications reported on next generation sequencing (NGS) in cohorts of patients with congenital hypothyroidism (1). Based on these data, diagnostic yield was higher in patients with gland-in-situ, than with thyroid dysgenesis. Further studies performed NGS only in cohorts of patients with gland-in-situ, excluding thyroid dysgenesis forms such as athyreosis, ectopy, or hypoplasia (2). The publication of Levaillant ...

Brief summary: Congenital central hypothyroidism is caused by thyrotropin deficiency, either isolated or in combination with other pituitary deficiencies. So far, mutations in five genes have been identified in patients with isolated thyrotropin deficiency: thyroid stimulating hormone subunit β (TSHβ), thyrotropin-releasing hormone receptor (TRHR), immunoglobulin superfamily member 1 (IGSF1), transducin-like protein 1 (TBLX1), and ...

Brief summary: The so far largest GWAS study on thyroid function in 72’167 individuals testing 8 million genetic variants identified 92 common genetic variants associated with variation of TSH and FT4 in the reference range. These variants explained 21% of the variance in normal thyroid function, however many identified variants were localized in genes without obvious link to thyroid function (1). This GWAS paper was commented in the 2019 Yearbook. The same research team ...