摘要
目的:总结两例由CYP21A2基因启动子区变异所致的非经典型21-羟化酶缺乏症(nonclassical 21-hydroxylase deficiency,NC-21OHD)患儿的临床特征。方法:回顾分析患儿的临床特征以及基因检测的结果。结果:两例患儿的主要临床表现分别为性早熟合并骨龄超前/进展控制不佳以及月经紊乱伴多毛。患儿1 CYP21A2基因存在启动子区-126C>T、-113G>A、-110T>C和I173N复合杂合变异,其母亲携带启动子区-126C>T、-113G>A、-110T>C杂合变异,其父亲携带I173N杂合变异。患儿2 CYP21A2基因存在启动子区-126C>T、-113G>A和I2G复合杂合变异,其母亲携带启动子区-126C>T和-113G>A杂合变异,其父亲携带I2G杂合变异。结论:对多毛、月经紊乱、骨龄超前/进展控制不佳的患儿,需警惕NC-21OHD的可能性。对CYP21A2基因编码区未检测出变异者应考虑对其启动子区进行分析。
Objective To summarize the clinical characteristics of two children with nonclassical 21 hydroxylase deficiency(NC-21OHD)due to variants of CYP21A2 gene promoter region.Methods Clinical characteristics and the results of genetic testing were reviewed.Results The main clinical manifestations of the two children included precocious puberty with poor bone age/progression control and menstrual disorder with hirsutism.Patient 1 had compound heterozygous variants for-126C>T,-113G>A,-110T>C and p.I173N;her mother was heterozygous for-126C>T,-113G>A and-110T>C,and her father was heterozygous for p.I173N.Patient 2 had compound heterozygous variants for-126C>T,-113G>A and p.I2G,whose mother was heterozygous for-126C>T and-113G>A,and father was heterozygous for p.I2G.Conclusion Diagnosis of NC-21OHD should be considered for children with hirsutism,menstrual disorder and poor bone age/progression control.The promoter region of CYP21A2 gene should be analyzed when no variant is detected in its coding regions.
作者
黄淑容
苏喆
张龙江
赵岫
温鹏强
Huang Shurong;Su Zhe;Zhang Longjiang;Zhao Xiu;Wen Pengqiang(Department of Endocrinology,Shenzhen Children’s Hospital,Shenzhen,Guangdong 518038,China;Institute of Pediatrics,Shenzhen Children’s Hospital,Shenzhen,Guangdong 518038,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2020年第8期815-818,共4页
Chinese Journal of Medical Genetics
