Thyroid transcription factor 1 deficiency

Last revised by David Luong on 27 Jul 2021

Thyroid transcription factor 1 deficiency is a situation characterized by mutations in the gene encoding thyroid transcription factor, NKX2-1.

It can result in neurological, thyroid, and pulmonary dysfunction (including neonatal respiratory distress). Children can have a range of mild-to-severe respiratory symptoms and can occasionally die of respiratory failure 1.

Lung histopathology can demonstrate evidence of disrupted surfactant homeostasis in most cases and with evidence of disrupted lung growth in some cases.

Ground-glass opacification is considered the most common imaging feature with consolidation also being a prevalent finding. Lung architectural distortion is considered less common 2.


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