[1]黄绍含,郑芬萍.CYP21A2基因I172N,I2G,8Del杂合缺失的21羟化酶 缺乏症1例报道及文献复习[J].国际内分泌代谢杂志,2020,40(05):357-360.[doi:10.3760/cma.j.cn121383-20191008-10010]
　Huang Shaohan,Zheng Fenping.21-Hydroxylase deficiency with I172N, I2G, 8Del heterozygous deletion of CYP21A2 gene:a case report and literatures review[J].International Journal of Endocrinology and Metabolism,2020,40(05):357-360.[doi:10.3760/cma.j.cn121383-20191008-10010]

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CYP21A2基因I172N,I2G,8Del杂合缺失的21羟化酶 缺乏症1例报道及文献复习()

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参考文献/References:

[1] Ginalska-Malinowska M. Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency-the next disease included in the neonatal screening program in Poland[J].Dev Period Med, 2018, 22(2): 197-200.
[2] 苏跃青, 陈涵强, 朱文斌, 等. 经典型21-羟化酶缺乏症的CYP21A2基因突变分析[J]. 中华医学遗传学杂志, 2016,33(6):786-791.DOI:10.3760/cma.j.issn.1003- 9406.2016.06.009.
[3] Auchus RJ. The classic and nonclassic congenital adrenal hyperplasias[J].Endocr Pract,2015,21(4):383-389.DOI:10.4158 / EP14474. RA.
[4] Parsa AA, New MI. Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia[J].J Steroid Biochem Mol Biol,2017,165(Pt A):2- 11.DOI:10.1016/j.jsbmb.2016.06.015.
[5] New MI, Lorenzen F, Lerner AJ, et al. Genotyping steroid 21-hydroxylase deficiency: hormonal reference data[J].J Clin Endocrinol Metab,1983, 57 (2):320-326.DOI:10.1210/jcem-57-2-320.
[6] Manoli I, Kanaka-Gantenbein C, Voutetakis A, et al. Early growth, pubertal development, body mass index and final height of patients with congenital adrenal hyperplasia:factors influencing the outcome[J].Clin Endocrinol(Oxf),2002,57(5):669-676. DOI:10.1046/j.1365-2265.2002.01645.x.
[7] Van Der Kamp HJ, Otten BJ, Buitenweg N, et al. Longitudinal analysis of growth and puberty in 21-hydroxylase deficiency patients[J].Arch Dis Child, 2002,87(2):139-144.DOI:10.1136/adc.87.2.139.
[8] Stikkelbroeck NM, Van't Hof-Grootenboer BA, Hermus AR, et al. Growth inhibition by glucocorticoid treatment in salt wasting 21-hydroxylase deficiency:in early infancy and(pre)puberty[J].J Clin Endocrinol Metab, 2003, 88(8):3525-3530.DOI:10.1210/jc.2002-030011.
[9] 王会贞, 卫海燕, 沈凌花, 等. 携带I2G突变的21羟化酶缺乏症患儿基因突变谱与临床表型的关系[J]. 临床儿科杂志, 2018, 36(4):256- 260.DOI:10.3969/j.issn.1000-3606.2018.04.005.
[10] Brønstad I, Breivik L, Methlie P, et al. Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia[J].Endocr Connect,2014,3(2):67-74.DOI:10.1530/EC-14-0032.
[11] Krone N, Braun A, Roscher AA, et al. Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany[J].J Clin Endocrinol Metab, 2000, 85(3):1059-1065.DOI:10.1210/jcem.85.3.6441.
[12] Rabbani B, Mahdieh N, Ashtiani MT, et al. Mutation analysis of the CYP21A2 gene in the Iranian population[J].Genet Test Mol Biomarkers, 2012,16 (2): 82-90.DOI:10.1089/gtmb.2011.0099.
[13] Concolino P. Issues with the detection of large genomic rearrangements in molecular diagnosis of 21-hydroxylase deficiency[J].Mol Diagn Ther,2019,23(5):563-567.DOI:10.1007/s40291-019-00415-z.
[14] 张令晖, 邓爱群, 严兆丹,等. 经典型类固醇21-羟化酶缺乏症86例临床诊治分析[J]. 临床内科杂志, 2016, 33(7):472-474.DOI:10.3969/j.issn.1001- 9057.2016.07.014.