|本期目录/Table of Contents|

[1]张聪,吴楚姗,许庆玲,等.非典型先天性肾上腺皮质增生症1例报告[J].天津医科大学学报,2020,26(06):569-571,574.
点击复制

非典型先天性肾上腺皮质增生症1例报告(PDF)
分享到:

《天津医科大学学报》[ISSN:1006-8147/CN:12-1259/R]

卷:
26卷
期数:
2020年06期
页码:
569-571,574
栏目:
病例报告
出版日期:
2020-11-20

文章信息/Info

Title:
-
作者:
张聪吴楚姗许庆玲张淑欣
天津医科大学总医院儿科,天津 300052
Author(s):
-
关键词:
非典型先天性肾上腺皮质增生21-羟化酶缺乏CYP21A2基因突变
Keywords:
-
分类号:
R725.8
DOI:
-
文献标志码:
B
摘要:
-
Abstract:
-

参考文献/References:

[1] 韩连书.先天性肾上腺皮质增生症诊治现状[J]. 中国实用儿科杂志,2016,31(6):410
[2] 罗飞宏. 先天性肾上腺皮质增生症诊断治疗进展[J]. 中华实用儿科临床杂志,2015,30(8):564
[3] Papadakis G,Kandaraki E A,Tseniklidi E,et al. Polycystic ovary syndrome and NC-CAH: distinct characteristics and common findings. asystematic review[J]. Front Endocrinol,2019,10:388
[4] Zhang B,Lu L,Lu Z. Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype-phenotype correlations[J]. J Int Med Res,2017,45(2):481
[5] Kopacek C,Prado M J,da Silva C,et al. Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation[J]. J Pediatr (Rio J),2019,95(3):282
[6] Güran T,Tezel B,Gürbüz F,et al. Neonatal screening for congenital adrenal hyperplasia in turkey:apilot study with 38,935 Infants[J]. J Clin Res Pediatr Endocrinol,2019,11(1):13
[7] 张晓青,王丽丽,余永国,等. 21-羟化酶缺乏症患儿基因突变分析[J].中华临床实验室管理电子杂志,2014, 2: 55
[8] Livadas S,Bothou C. Management of the female with non-classical congenital adrenal hyperplasia: apatient-oriented approach[J]. Front Endocrinol,2019,10:366
[9] Kurto■lu S,Hatipo■lu N. Non-classical congenital adrenal hyperplasia in childhood[J]. J Clin Res Pediatr Endocrinol,2017,9(1):1
[10] Akhtar N,Hayat Z,Bari A. Female pseudo hermaphroditism:late onset congenital adrenal hyperplasia[J]. J Ayub Med Coll Abbottabad,2018,30 (3):458
[11] Chesover A D,Millar H,Sepiashvili L,et al. Screening for nonclassiccongenital adrenal hyperplasia in the era of liquid chromatography-tandem mass spectrometry[J]. J Endocr Soc,2019,4(2) :1
[12] 梁雁,罗小平.非经典型先天性肾上腺皮质増生症诊治现状[J]. 中国实用儿科杂志,2016,31(6):418
[13] Einaudi S,Napolitano E,Restivo F,et al. Genotype,phenotype and hormonal levels correlation in non-classical congenital adrenal hyperplasia[J]. Endocrinol Invest,2011,34:660
[14] 谢波波,陈少科,范歆,等. 33例先天性肾上腺皮质増生症患儿CYP21A2基因突变研究. 第十四次全国医学遗传 学学术会议书面交流[C].北京:中国学术期刊电子出版社,2015:307
[15] Falhammar H,Nordenstrom A. Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation,diagnosis,treatment,and outcome[J]. Endocrine,2015,50:32
[16] 林小梅,吴本清,黄进洁,等.先天性肾上腺皮质增生症 1 例 CYP21A2 基因突变分析[J]. 中国当代儿科杂志, 2013,15(11):942
[17] Macut D,Zdravkovic V,Bjekic-Macut J,et al. Metabolic perspectives for non-classical congenital adrenal hyperplasia with relation to the classical form of the disease[J]. Front Endocrinol,2019,10: 681

相似文献/References:

备注/Memo

备注/Memo:
文章编号 1006-8147(2020)06-0569-03
基金项目 天津市自然科学基金重点项目(17JCZDJC36400),天津市卫计委重点攻关研究项目(16KG123),天津市 科技局科学技术普及项目(18KPHDSF00140)
作者简介 张聪(1990-),女,硕士在读,研究方向:儿科学;通信作者: 郑荣秀,E-mail :rzheng@tmu.edu.cn。
更新日期/Last Update: 2020-11-20