何琴 1张黎 2黄轲 2吴蔚 2董关萍 2傅君芬2
作者信息
- 1. 浙江大学医学院附属儿童医院内分泌科国家儿童健康与疾病临床医学研究中心国家儿童区域医疗中心,浙江杭州 310052||绍兴第二医院医共体总院儿科,浙江绍兴 312000
- 2. 浙江大学医学院附属儿童医院内分泌科国家儿童健康与疾病临床医学研究中心国家儿童区域医疗中心,浙江杭州 310052
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摘要
Abstract
Objective To analyze the clinical features and molecular genetic changes of congenital adrenal hyperplasia(CAH)with non-21-OHD,and to investigate the correlation between clinical phenotype and genotype of different types of CAH.Methods A total of 60 patients diagnosed with congenital adrenal hyperplasia were collected from Endocrinology Department of Children's Hospital of Zhejiang University School of Medicine from July 2017 to April 2022.There were 22 cases of CAH with non 21-OHD.Clinical manifestation,laboratory examination and gene testing results were retrospectively analyzed.Results Among the 60 CAH patients diagnosed by clinical manifestations and genetic diagnosis,22 were non-21-OHD patients,of whom 11(1 1/22)were girls and 11(11/22)were boys,aged from 19 days to 14.5 years.There were 8 cases of 11 β-hydroxylase deficiency(11β-OHD)(8/22),7 cases of 17α-hydroxylase deficiency(17α-OHD)(7/22),5 cases of congenital lipoid adrenal hyperplasia(CLAH)(5/22),and 1 case of P450 oxidoreductase deficiency(PORD)(1/22);1 case Of 3β-hydroxysteroid dehydrogenase type 2 deficiency(3βHSD2D)(1/22).External genital dysplasia and pigmentation were found in all 5 types of diseases,and the age of diagnosis in the 17α-OHD group was the latest.Among the 5 related genes(CYP11B1,CYP17A1,StAR,POR,HSD3B2)found in 22 patients,a total of 28 gene mutations were detected,including 10 new mutations that had not been reported before(CYP11B1 gene c.715_731del,c.240-2A＞G,c.1359dupG,c.64C＞T,c.346T＞C,chr8:143957113-143994301,chr8:143957206-143994456 fragment deletion,CYP17A1 gene c.1304T＞C,StAR gene c.491C＞A,HSD3B2 gene c.484G＞A).The c.1459_1467del(p.D487_F489del)with the highest frequency accounted for 50％(7/14)of CYP17A1 alleles.Conclusion Genetic testing is important for the early diagnosis and treatment of non-21-OHD.The detection rate of 17α-OHD is close to that of 11β-OHD.And p.D487_F489del and p.Y329Kfs are the main variants in the study.A homozygous mutation of c.484G＞A(P.Glu162Lys)is found in 3β-hydroxysteroid dehydrogenase type 2 deficiency,which has not been previously reported.关键词
11β-羟化酶缺乏症/17α-羟化酶缺乏症/类脂性先天性肾上腺皮质增生症/P450氧化还原酶缺乏症/3β-羟类固醇脱氢酶2型缺乏症Key words
11β-hydroxylase deficiency/17α-hydroxylase deficiency/congenital lipoid adrenal hyperplasia/P450 oxidoreductase deficiency/3 β-hydroxysteroid dehydrogenase type 2 defificiency分类
医药卫生
