Background: An ENDO-European Reference Network (ERN) initiative was launched that
was endorsed by the European Society for Pediatric Endocrinology and the European …

Introduction Congenital hypothyroidism (CH) is the most frequent neonatal endocrine
disorder and one of the most common preventable forms of mental retardation worldwide …

Objective Congenital hypothyroidism (CH), the most common neonatal metabolic disorder,
is characterized by impaired neurodevelopment. Although several candidate genes have …

The genetic causes of congenital hypothyroidism due to thyroid dysgenesis (TD) remain
largely unknown. We identified three novel TUBB 1 gene mutations that co‐segregated with …

Deficiency in Krüppel-like zinc finger transcription factor GLI-similar 3 (GLIS3) in humans is
associated with the development of congenital hypothyroidism. However, the functions of …

Congenital hypothyroidism is the most common neonatal endocrine disorder and is primarily
caused by developmental abnormalities otherwise known as thyroid dysgenesis (TD). We …

Purpose The incidence of primary congenital hypothyroidism (CH) has grown progressively
and literature data indicate an association between CH and congenital malformations. The …

Purpose Congenital hypothyroidism (CH) is a common congenital endocrine disorder in
humans. CH-related diseases such as athyreosis, thyroid ectopy, and hypoplasia are …

Objective To elucidate the molecular cause in a well-characterized cohort of patients with
Congenital Hypothyroidism (CH) and Dyshormonogenesis (DH) by using targeted next …

The pathogenesis of thyroid dysgenesis (TD) is not well understood. Here, using a
combination of single-cell RNA and spatial transcriptome sequencing, we identify a …