ESPE2022 Poster Category 2 Late Breaking (14 abstracts)
A case of permanent congenital hypothyroidism with NKX2-1 mutation and optic nerve thickness
Jaejin Yang 1 , Woo Yeong Chung 2 , Seung Hwan Oh 3 , Go Hun Seo 4 , Jeong Rye Kim 1 & Jeesuk Yu 1
1Dankook University Hospital, Cheonan, Republic of South Korea; 2Pusan Paik Hospital, Pusan, Republic of South Korea; 3Pusan National University Yangsan Hospital, Pusan, Republic of South Korea; 43 Billion Inc., Seoul, Republic of South Korea
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 and 1.2 ng/dL. Thyroid sonography showed normal positioned thyroid gland with normal echogenicity. Medication with L-thyroxine started immediately. After 2 months of treatment, he moved to other place and came back to our clinic when he was 26 months, when he had global developmental delay. Serum total T3, free T4, and TSH levels were 161.4ng/dl, 1.23ng/dl, and 22.97uIU/ml, respectively at the time. L-thyroxine dose was increased based on the result of thyroid function test. Because he manifested clinical symptoms involving both thyroid and brain, whole exome sequencing was performed, which revealed likely pathogenic variant in the gene NKX2-1. His mother who has tic-like movement also had same mutation. On Brain MRI, there was no abnormal finding in the basal ganglia, however optic nerve thickness was detected. Ophthalmologic consultation and regular follow-up of brain MRI were performed with continuous treatment with L-thyroxine. Here we report a case of congenital hypothyroidism with NKX2-1 mutation in an 8-year-old boy with developmental delay and optic nerve thickness.
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