The genotype-phenotype correlations in patients with 21-hydroxylase deficiency in Henan,China and the relationship between the clinically effective dosage of hydrocortisone and CYP21A2 genotype

被引：0
|
作者：
Yang, Haihua
Wei, Haiyan
Huang, Ai
Chen, Yongxing
Li, Yangshiyu
机构：
[1] Zhengzhou Univ, Childrens Hosp, Zhengzhou, Peoples R China
[2] Henan Childrens Hosp, Zhengzhou, Peoples R China
[3] Zhengzhou Childrens Hosp, Dept Endocrinol & Genet Metab, Zhengzhou, Peoples R China
来源：
HORMONE RESEARCH IN PAEDIATRICS | 2023年 / 96卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
P2-76
引用
收藏
页码：458 / 459
页数：2
相关论文
共 50 条
  • [1] Genotype-phenotype correlation in patients with 21-hydroxylase deficiency
    Tang, Peng
    Zhang, Jun
    Peng, Song
    Wang, Yapeng
    Li, Haoyang
    Wang, Ze
    Zhang, Yao
    Huang, Yiqiang
    Xu, Jing
    Zhang, Dianzheng
    Liu, Qiuli
    Wang, Luofu
    Lan, Weihua
    Jiang, Jun
    [J]. FRONTIERS IN ENDOCRINOLOGY, 2023, 14
  • [2] PHENOTYPE GENOTYPE CORRELATIONS IN 21-HYDROXYLASE DEFICIENCY
    SIEGEL, SF
    LEE, PA
    RUDERT, WA
    SWINYARD, M
    TRUCCO, M
    [J]. ADOLESCENT AND PEDIATRIC GYNECOLOGY, 1995, 8 (01): : 9 - 16
  • [3] Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype-phenotype correlations
    Zhang, Bo
    Lu, Lin
    Lu, Zhaolin
    [J]. JOURNAL OF INTERNATIONAL MEDICAL RESEARCH, 2017, 45 (02) : 481 - 492
  • [4] Genotype in the diagnosis of 21-hydroxylase deficiency: Who should undergo CYP21A2 analysis?
    Cavarzere, P.
    Vincenzi, M.
    Teofoli, F.
    Gaudino, R.
    Lauriola, S.
    Maines, E.
    Camilot, M.
    Antoniazzi, F.
    [J]. JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2013, 36 (11): : 1083 - 1089
  • [5] Phenotype-Genotype Correlations of 13 Rare CYP21A2 Mutations Detected in 46 Patients Affected with 21-Hydroxylase Deficiency and in One Carrier
    Tardy, V.
    Menassa, R.
    Sulmont, V.
    Lienhardt-Roussie, A.
    Lecointre, C.
    Brauner, R.
    David, M.
    Morel, Y.
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2010, 95 (03): : 1288 - 1300
  • [6] Genotype in the diagnosis of 21-hydroxylase deficiency: Who should undergo CYP21A2 analysis?
    P. Cavarzere
    M. Vincenzi
    F. Teofoli
    R. Gaudino
    S. Lauriola
    E. Maines
    M. Camilot
    F. Antoniazzi
    [J]. Journal of Endocrinological Investigation, 2013, 36 : 1083 - 1089
  • [7] Analysis of CYP21A2 gene mutation and phenotype in patients with 21-hydroxylase deficiency
    舒剑波
    [J]. China Medical Abstracts (Internal Medicine), 2019, 36 (02) : 83 - 83
  • [8] Challenges of CYP21A2 genotyping in children with 21-hydroxylase deficiency: determination of genotype-phenotype correlation using next generation sequencing in Southeastern Anatolia
    Karaoglan, M.
    Nacarkahya, G.
    Aytac, E. H.
    Keskin, M.
    [J]. JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2021, 44 (11) : 2395 - 2405
  • [9] Clinical phenotype and genotype association in patients with 21-hydroxylase deficiency
    Aghayeva, Asmar
    Turan, Hande
    Toksoy, Guven
    Cakir, Aydilek Dagdeviren
    Berkay, Ezgi
    Gunes, Nilay
    Evliyaoglu, Olcay
    Uyguner, Zehra Oya
    Dundar, Munis
    Tuysuz, Beyhan
    Ercan, Oya
    [J]. HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 361 - 362
  • [10] GENOTYPE AND HORMONAL PHENOTYPE IN NONCLASSICAL 21-HYDROXYLASE DEFICIENCY
    SPEISER, PW
    NEW, MI
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1987, 64 (01): : 86 - 91
12345