Although GNAS methylation changes were not detected in additional pediatric and adult patients with subclinical hypothyroidism (23 pediatric and 39 adult cases), hypothyroidism can obviously be the initial finding in PHP-Ib patients.
Although previously reported cases described delayed subclinical hypothyroidism as the more common thyroid abnormality, we report a not previously describedGNAS mutation associated with an atypical early-onset primary hypothyroidism.