Objective: To report the endocrine system evaluation of a case of DiGeorge syndrome (DGS) complicated with hypothyroidism

summarize the experience of diagnosis

treatment and follow-up

and preliminarily explore the possible mechanism of hypothyroidism in combination with literature. Methods: Based on the child’s symptoms such as low metabolism

underdevelopment and multiple malformations

whole exon sequencing was performed on the child to confirm the diagnosis

both the phenotype and genotype analysis were focused on the main manifestations of the endocirne system. Results: Whole exon sequencing revealed a >2.45Mb heterozygosity deletion in the 22q11.21 region

which contained multiple genes such as TBX1. Combined with the clinical manifestations and thyroid function tests

the diagnosis of DGS complicated with hypothyroidism was made. Symptoms such as hypometabolism syndrome

underdevelopment and other symptoms in children were significantly improved after the replacement therapy with euthyrox. Conclusion: Evaluation of thyroid function should be emphasized in children with DGS.