DiGeorge综合征伴生长激素缺乏症1例报告并文献复习

DiGeorge syndrome accompanied with growth hormone deficiency——a case report and literature review

目的通过病例报告及文献复习,提高临床上对DiGeorge综合征的认识和鉴别能力。方法回顾性分析了成都市妇女儿童中心医院儿童内分泌遗传代谢科收治的1例DiGeorge综合征伴生长激素缺乏症的患儿临床资料、实验室检查及基因诊断结果,并检索相关文献,探索DiGeorge综合征的临床诊断问题。结果患儿,女,5岁5月龄,由于"生长缓慢和智力发育落后"来就诊,见身材矮小、智力落后、左眼内斜视、小下颌、牙齿排列异常等多系统异常,生长激素激发试验结果为生长激素缺乏症,染色体芯片检测结果显示22q11.21—22q11.23存在1.95Mb缺失,故临床上诊断为伴生长激素缺乏的DiGeorge综合征;予基因重组人生长激素注射液皮下注射,12个月身高共增长12.8cm,身高增长3.7个标准差。结论身高低于同年龄同性别2.5个标准差的患儿,临床应重视遗传性疾病的分子诊断;DiGeorge综合征常累及多个器官,临床表型较复杂;此综合征伴矮小症的患儿,建议评估其甲状腺轴及生长轴功能。

Objective To improve clinical recognition and differentiation of DiGeorge syndrome through case report and literature review.Methods The clinical data,laboratory examination and genetic diagnosis results of a case of DiGeorge syndrome accompanied with growth hormone deficiency who admitted to the Department of Pediatric Endocrinopathies,Genetic and Metabolic diseases of Chengdu Municipal Women’s and Children’s Central Hospital were retrospectively analyzed,and the related literatures were searched to explore the clinical diagnosis of DiGeorge syndrome.Results The child,female,aged 5 yeas and 5 months,visited the pediatrician due to"slow in physical growth and lagged behind in intellectual development".The child presented with multiple organ abnormalities including short stature,mental retardation,esotropia of the left eye,small lower jaw,deformity in teeth arrangement.The growth hormone excitation test results shown growth hormone deficiency,and chromosome chip testing results showed that 1.95 Mb in 22 q11.21-22 q11.23 was missing.So the clinical diagnosis of DiGeorge syndrome accompanied with growth hormone deficiency was determined.The child was treated with subcutaneous injection of recombinant human growth hormone.After 12 months of growth hormone replacement treatment,the height of the child increased by 12.8 cm with+3.7 SD of the norm totally.Conclusion In clinic,molecular diagnosis of hereditary diseases should be paid more attention for those children whose height are lower by 2.5 times of SD than that of normal children with same age and same gender.DiGeorge syndrome often involves in multiple organs and results in complex clinical phenotypes.It is recommended to evaluate thyroid axis and growth axis function of those children with DiGeorge syndrome accompanied with dwarfism.