CONGENITAL HYPOTHYROIDISM

ANALYSIS OF THE PAX8, FOXE1, NKX2-1, THRATSHR, TG, TPO AND DUOX2 GENES

Congenital hypothyroidism (CH) is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment if untreated.  CH is characterized by elevated levels of thyroid-stimulating hormone (TSH) resulting from reduced thyroid function. In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis. In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). Inborn errors of thyroid hormone biosynthesis (dyshormonogenesis) account for 10-15% of cases.

Thyroid dysgenesis is due to disease-causing variants in the PAX8, FOXE1, NKX2-1, THRA and TSHR genes.  Thyroid dyshormonogenesis is caused by disease-causing variants in the TG, TPO and DUOX2 genes.

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.