| 摘要: |
| 目的：报道1例DiGeorge综合征（DGS）合并甲状腺功能减低症病例的内分泌系统评估，总结诊断治疗随访经验并结合文献初步探讨其发生甲状腺功能减低症的可能机制。方法：基于患儿具有低代谢、发育落后、多发畸形等表现，为明确诊断，对该病例进行了全外显子测序，并重点对其内分泌系统的主要表现进行表型和基因型分析。结果：该患儿在22q11.21区域存在>2.45Mb的杂合性缺失，内含TBX1等多个基因。结合患儿临床表现、甲状腺功能测定等诊断为DGS合并甲状腺功能减低症。予以优甲乐替代治疗后患儿低代谢症候群、发育落后等症状明显好转。结论：DGS患儿需重视甲状腺功能的评估。 |
| 关键词: DiGeorge综合征 TBX1基因 甲状腺功能减低症 |
| DOI：doi:10.13407/ j.cnki.jpp.1672.108X.2022.08.008 |
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| 基金项目:重庆市科卫联合医学科研重点项目,编号2018ZDXM008;重庆市教育委员会科学技术研究项目,编号KJQN201900448 |
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| Endocrine System Evaluation and Literature Review in a Child with DiGeorge Syndrome Complicated with Hypothyroidism |
| Deng Shanshan1,2, Chen Jingyu1, Li Rong1, Song Cui1 |
| (1. Children’s Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, National Demonstration Base for Standardized Training of Resident Physicians, Chongqing 400014, China; 2. Chongqing Emergency Medical Center, Chongqing 400014, China) |
| Abstract: |
| 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. |
| Key words: DiGeorge syndrome TBX1 gene hypothyroidism |
