Homozygous mutations in the GLIS3 gene have been typically associated with Neonatal Diabetes and Congenital Hypothyroidism (CH) in a syndrome called NDH.
We present a patient with congenital hypothyroidism (CH) who presented in newborn screening with elevated serum thyroid-stimulating hormone (TSH), decreased free thyroxine (fT4) and increased thyroglobulin (Tg) concentrations.
<b>Objective:</b> We aimed to identify <i>DUOX1/DUOXA1</i> mutations and explore their role in the development of CH by investigating their functional impacts on H<sub>2</sub>O<sub>2</sub> generation.
<b>Conclusions:</b> We have identified two heterozygous missense mutations in <i>DUOX1</i> and <i>DUOXA1</i> in two patients that can cause CH through disrupting the coordination of DUOX1 and DUOXA1 in the generation of H<sub>2</sub>O<sub>2</sub>.
ITD is an uncommon cause of dyshormonogenetic congenital hypothyroidism that results from inactivating mutations in the sodium/iodide symporter (NIS)-coding <i>SLC5A5</i> gene.
167 different mutations, many of which are newly discovered, are now known to exist in TG (encoding human thyroglobulin) that can lead to defective thyroid hormone synthesis, resulting in congenital hypothyroidism.
Thyroid-specific transcription factor PAX8 has an indispensable role in the thyroid gland development, which is evidenced by the facts that PAX8/Pax8 mutations cause congenital hypothyroidism in humans and mice.
Here, we report homozygous truncating mutations in SLC26A7 in 6 unrelated families with goitrous CH and show that goitrous hypothyroidism also occurs in Slc26a7-null mice.
Congenital hypothyroidism (CH) resulting from inactivating mutations in the DUOX2 gene highlighted that DUOX2 is the major H<sub>2</sub>O<sub>2</sub> provider to thyroperoxidase.
Loss of GLIS3 function in humans and mice leads to the development of several pathologies, including neonatal diabetes and congenital hypothyroidism, polycystic kidney disease, and infertility.