A novel X-linked variant c.1772delG (p.G591fs*20) in IRS4 in two related patients with central hypothyroidism

Isolated CeH should keep in mind in insistent low fT4 levels without an increase in thyroid stimulating hormone levels. Genetic testing can aid in identifying the underlying cause of CeH in such cases. This report demonstrates the significance of providing comprehensive laboratory and molecular features of the patients and carriers with the <i>IRS4</i> variants.