Case of congenital hypothyroidism related to NKX2-1

Abstract

NKX2-1 is a transcription factor. Gene NKX2-1 is expressed in tissues of the thyroid gland, brain and lungs. Mutations of NKX2-1 can lead to neurological disorders, hypothyroidism, and respiratory distress syndrome. The combinations of these symptoms are known as brain-lung-thyroid syndrome. Benign hereditary chorea is the characteristic feature of this disease and the most common manifestation of it. Chorea progresses into the second decade after which it remains stable or may even spontaneously remit. Pulmonary dysfunction is the second most common manifestation of NKX2-1-related disorders. They include respiratory distress syndrome of the newborns, interstitial lung disease between ages four months and seven years and pulmonary fibrosis in older individuals. Thyroid dysfunction can present as congenital hypothyroidism or subclinical hypothyroidism in adolescents. The combination of triad of the syndrome is present in only 50% of patients. This study includes a description of patient with brain-lung-thyroid syndrome. We described the novel mutation c.628_772del in the gene NKX2-1.