The serum growth hormone (GH) response to provocative tests is dependent on type of assay in autosomal dominant isolated GH deficiency because of an ARG183HIS (R183H) GH-I gene mutation

被引：8
|
作者：
Marino, R
Chaler, E
Warman, M
Ciaccio, M
Berensztein, E
Rivarola, MA
Belgorosky, A
机构：
[1] Hosp Pediat Garrahan, Coordinac Invest, Res Lab, RA-1245 Buenos Aires, DF, Argentina
[2] Hosp Pediat Garrahan, Serv Endocrinol, RA-1245 Buenos Aires, DF, Argentina
来源：
CLINICAL CHEMISTRY | 2003年 / 49卷 / 06期
关键词：
D O I：
10.1373/49.6.1002
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
引用
收藏
页码：1002 / 1005
页数：4
相关论文
共 9 条
  • [1] Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation:: Clinical and molecular evidence of impaired regulated GH secretion
    Deladoëy, J
    Stocker, P
    Mullis, PE
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (08): : 3941 - 3947
  • [2] Isolated growth hormone deficiency due to the R183H mutation in GH1: Clinical analysis of a four-generation family
    Cabrera-Salcedo, Catalina
    Shah, Amy S.
    Andrew, Melissa
    Tyzinski, Leah
    Hwa, Vivian
    Gutmark-Little, Iris
    Backeljauw, Philippe
    Dauber, Andrew
    CLINICAL ENDOCRINOLOGY, 2017, 87 (06) : 874 - 876
  • [3] Prolonged retention after aggregation into secretory granules of human R183H-growth hormone (GH), a mutant that causes autosomal dominant GH deficiency type II
    Zhu, YL
    Conway-Campbell, B
    Waters, MJ
    Dannies, PS
    ENDOCRINOLOGY, 2002, 143 (11) : 4243 - 4248
  • [4] Inhibition of growth hormone (GH) secretion by a mutant GH-I gene product in neuroendocrine cells containing secretory granules:: An implication for isolated GH deficiency inherited in an autosomal dominant manner
    Hayashi, Y
    Yamamoto, M
    Ohmori, S
    Kamijo, T
    Ogawa, M
    Seo, H
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1999, 84 (06): : 2134 - 2139
  • [5] FAMILIAL ISOLATED GROWTH HORMONE DEFICIENCY CAUSED BY THE R183H MUTATION IN THE GROWTH HORMONE GENE (GH1): A DETAILED CLINICAL ANALYSIS OF A FOUR-GENERATION FAMILY
    Salcedo, Catalina Cabrera
    Shah, Amy
    Andrew, Melissa
    Tyzinski, Leah
    Hwa, Vivian
    Gutmark-Little, Iris
    Backeljauw, Philippe
    Dauber, Andrew
    HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 479 - 479
  • [6] Growth Hormone (GH) Deficiency Type II: A Novel GH-1 Gene Mutation (GH-R178H) Affecting Secretion and Action
    Petkovic, Vibor
    Godi, Michela
    Pandey, Amit V.
    Lochmatter, Didier
    Buchanan, Charles R.
    Dattani, Mehul T.
    Eble, Andree
    Flueck, Christa E.
    Mullis, Primus E.
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2010, 95 (02): : 731 - 739
  • [7] A Novel GH1 Mutation in a Family with Autosomal-Dominant Type II Isolated Growth Hormone Deficiency
    Gurbuz, Fatih
    Elmaogullari, Selin
    Arasli, Aslihan
    Demirel, Fatma
    HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 375 - 375
  • [8] Autosomal-dominant isolated growth hormone deficiency (IGHD type II) with normal GH-1 gene
    Fintini, D
    Salvatori, R
    Salemi, S
    Otten, B
    Ubertini, G
    Cambiaso, P
    Mullis, PE
    HORMONE RESEARCH, 2006, 65 (02) : 76 - 82
  • [9] TREATMENT OF ISOLATED GROWTH-HORMONE DEFICIENCY TYPE-IA DUE TO GH-I GENE DELETION WITH RECOMBINANT HUMAN INSULIN-LIKE GROWTH FACTOR-I
    NISHI, Y
    HAMAMOTO, K
    KAJIYAMA, M
    FUJIWARA, M
    MIYAGAWA, S
    HASEGAWA, Y
    HASEGAWA, T
    ACTA PAEDIATRICA, 1993, 82 (11) : 983 - 986
1