hrp0095p2-314 | Late Breaking | ESPE2022

A case of permanent congenital hypothyroidism with NKX2-1 mutation and optic nerve thickness

Yang Jaejin , Yeong Chung Woo , Hwan Oh Seung , Hun Seo Go , Rye Kim Jeong , Yu eesuk

Congenital hypothyroidism can be caused by the wrong formation of the thyroid gland or the defect in the synthesis of thyroid hormone. Among the candidate genes, defect in the gene NKX2-1 can be presented as thyroid, lung, or brain dysfunction. An eight-year-old boy was diagnosed as congenital hypothyroidism at the age of 16 days. He was referred to our Pediatric Endocrinology Clinic due to elevated TSH level (36.28uIU/mL). Serum total T3 and free T4 were 125 ng/dL an...