Abstract: Objective: We amied to report a case of DUOXA2 gene related congenital hypothyroidism (CH) and to summarize its clinical features and characteristics of gene variants. Methods: The clinical phenotype and genotype of a girl with CH admitted to the Children's Hospital of Fudan University were analyzed. We searched "DUOXA2 gene" or "dual oxidase maturation factor 2" in CNKI, Wanfang database, VIP database, China Biomedical Literature database, PubMed and Web of Science database. All the databases were searched from the inception to Aug 16, 2020. Results: The girl at the age of 25 days showed TSH 224 mU·L-1 by newborn screening, TSH 100 mU·L-1 and FT4 0 pmol·L-1 by serum thyroid function, and bilateral goiter by thyroid ultrasound. Clinical exome sequencing analysis showed DUOXA2 gene c.738C>G (p.Y246X) and c.341G>C (p.G114A) heterozygous pathogenic variants. Followed-up to 3 years and 8 months old, her intelligence and growth were normal after taking levothyroxine sodium tablets. Forty cases of DUOXA2 gene disease have been reported at home and abroad, of which 19 cases have follow-up data. The biallelic and monoallelic DUOXA2 variants have statistical significance in the TSH level at newborn screening and in the serum TSH level at diagnosis respectively (P1=0.023; P2=0.003), but serum FT4 level at diagnosis, thyroid size, withdrawal or retreatment after withdrawal and outcome were not statistically significant. Conclusion: It may be bialletic variants if the TSH level is significantly increased in DUOXA2 gene related CH.

Key words: congenital hypothyroidism, Goiter, DUOXA2