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
  • [21] Challenges of CYP21A2 genotyping in children with 21-hydroxylase deficiency: determination of genotype–phenotype correlation using next generation sequencing in Southeastern Anatolia
    M. Karaoğlan
    G. Nacarkahya
    E. H. Aytaç
    M. Keskin
    Journal of Endocrinological Investigation, 2021, 44 : 2395 - 2405
  • [22] Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency
    Vrzalova, Zuzana
    Hruba, Zuzana
    Hrabincova, Eva ST'Ahlova
    Pouchla, Slavka
    Votava, Felix
    Kolouskova, Stanislava
    Fajkusova, Lenka
    INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 2010, 26 (04) : 595 - 603
  • [23] Genotype-phenotype association in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children
    Ermakhanova, Tamara
    Bazarbekova, Rimma
    Svyatova, Gulnara
    Dossanova, Ainur
    CLINICAL ENDOCRINOLOGY, 2023, 98 (05) : 654 - 661
  • [24] Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms
    Rumsby, G
    Avey, CJ
    Conway, GS
    Honour, JW
    CLINICAL ENDOCRINOLOGY, 1998, 48 (06) : 707 - 711
  • [25] STEROID 21-HYDROXYLASE DEFICIENCY - GENOTYPE MAY NOT PREDICT PHENOTYPE
    WILSON, RC
    MERCADO, AB
    CHENG, KC
    NEW, MI
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1995, 80 (08): : 2322 - 2329
  • [26] Genotype and phenotype, growth outcome in 33 Korean patients with 21-hydroxylase deficiency
    Yoon, Ju Young
    Choi, Im Jeong
    Kim, Hyun-Ji
    Cheon, Chong Kun
    HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 507 - 507
  • [27] Molecular analysis of the CYP21A2 gene in Chinese patients with steroid 21-hydroxylase deficiency
    Ma, Dingyuan
    Chen, Yulin
    Sun, Yun
    Yang, Bing
    Cheng, Jian
    Huang, Meilian
    Zhang, Jin
    Zhang, Jingjing
    Hu, Ping
    Lin, Ying
    Jiang, Tao
    Xu, Zhengfeng
    CLINICAL BIOCHEMISTRY, 2014, 47 (06) : 455 - 463
  • [28] New CYP21A2 mutations in Brazilian patients with the classical form of 21-hydroxylase deficiency
    Soardi, Fernanda
    Coeli, Fernanda Borchers
    Michelini, Mariana Piccinin
    Vasconcelos Rosa, Maria Madalena
    Matias Baptista, Maria Tereza
    Valente Lemos Marini, Sofia Helena
    Guerra, Gil, Jr.
    De Mello, Maricilda Palandi
    Barbos Silva, Mircia Duarte
    HORMONE RESEARCH, 2006, 65 : 69 - 69
  • [29] Mutations of CYP21B gene and genotype phenotype correlation in Czech patients with steroid 21-hydroxylase deficiency.
    Prusa, R
    Lisa, L
    Snajderova, M
    Kolouskova, S
    Boday, A
    CLINICAL CHEMISTRY, 1997, 43 : 763 - 763
  • [30] CYP21A2 GENE MUTATIONS IN CONGENITAL ADRENAL HYPERPLASIA: GENOTYPE-PHENOTYPE CORRELATION
    Saka, Nurcin
    IUBMB LIFE, 2009, 61 (03) : 301 - 301
12345