Isolated growth hormone deficiency due to the R183H mutation in GH1: Clinical analysis of a four-generation family

被引：4
|
作者：
Cabrera-Salcedo, Catalina [1 ,2 ]
Shah, Amy S. [1 ,2 ]
Andrew, Melissa [1 ]
Tyzinski, Leah [1 ,2 ]
Hwa, Vivian [1 ,2 ]
Gutmark-Little, Iris [1 ,2 ]
Backeljauw, Philippe [1 ,2 ]
Dauber, Andrew [1 ,2 ]
机构：
[1] Cincinnati Childrens Hosp Med Ctr, Cincinnati Ctr Growth Disorders, Div Endocrinol, Cincinnati, OH 45229 USA
[2] Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA
来源：
CLINICAL ENDOCRINOLOGY | 2017年 / 87卷 / 06期
基金：
美国国家卫生研究院;
关键词：
GH-1; GENE; LONGEVITY;
D O I：
10.1111/cen.13400
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：874 / 876
页数：3
相关论文
共 50 条
  • [21] Different Growth Responses to Recombinant Human Growth Hormone in Three Siblings with Isolated Growth Hormone Deficiency Type 1A due to a 6.7Kb Deletion in the GH1 Gene
    Ghosh, Sayan
    Chakraborty, Partha Pratim
    Bankura, Biswabandhu
    Maiti, Animesh
    Biswas, Rajkrishna
    Das, Madhusudan
    JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2021, 13 (04) : 456 - 460
  • [22] Lack of evidence of premature atherosclerosis in untreated severe isolated growth hormone (GH) deficiency due to a GH-releasing hormone receptor mutation
    Menezes Oliveira, Joselina Luzia
    Marques-Santos, Celi
    Barreto-Filho, Jose Augusto
    Ximenes Filho, Roberto
    Valadao de Oliveira Britto, Allan
    Oliveira Souza, Anita Herminia
    Prado, Clarisse Miranda
    Pereira Oliveira, Carla Raquel
    Pereira, Rossana Maria C.
    de Almeida Ribeiro Vicente, Tabita
    Teles Farias, Catarine
    Aguiar-Oliveira, Manuel Herminio
    Salvatori, Roberto
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2006, 91 (06): : 2093 - 2099
  • [23] Extensive phenotypic analysis of a family with Growth Hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene
    Netchine, I
    Talon, P
    Dastot, F
    Vitaux, F
    Goossens, M
    Amselem, S
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1998, 83 (02): : 432 - 436
  • [24] Metabolic effects of growth hormone (GH) replacement in children and adolescents with severe isolated GH deficiency due to a GHRH receptor mutation
    Gleeson, Helena
    Barreto, Elenilde S. de A.
    Salvatori, Roberto
    Costa, Liana
    Oliveira, Carla R. P.
    Pereira, Rossana M. C.
    Clayton, Peter
    Aguiar-Oliveira, Manuel H.
    CLINICAL ENDOCRINOLOGY, 2007, 66 (04) : 466 - 474
  • [25] Isolated growth hormone deficiency related to GH1 gene deletion: Case report and response to treatment with rhIGF1
    Cespedes, Camila
    Forero, Catalina
    HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 (SUPPL 2): : 172 - 172
  • [26] Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations
    Cohen, Enzo
    Belkacem, Sabrina
    Fedala, Soumeya
    Collot, Nathalie
    Khallouf, Eliane
    Dastot, Florence
    Polak, Michel
    Duquesnoy, Philippe
    Brioude, Frederic
    Rose, Sophie
    Viot, Geraldine
    Soleyan, Aude
    Carel, Jean-Claude
    Sobrier, Marie-Laure
    Chanson, Philippe
    Gatelais, Frederique
    Heinrichs, Claudine
    Kaffel, Noureddine
    Coutant, Regis
    Erdeve, Senay Savas
    Kurnaz, Erdal
    Aycan, Zehra
    Thalassinos, Caroline
    Lyonnet, Stanislas
    Siklar, Zeynep
    Berberoglu, Merih
    Brachet, Cecile
    Amselem, Serge
    Legendre, Marie
    HUMAN MUTATION, 2019, 40 (11) : 2033 - 2043
  • [27] Phenotype-genotype correlations of GH1 gene variants in patients with isolated growth hormone deficiency (IGHD) or multiple pituitary hormone deficiency (MPHD)
    Ozturk, Ayse Pinar
    Abali, Zehra Yavas
    Aslanger, Ayca Dilruba
    Bas, Firdevs
    Toksoy, Gueven
    Karaman, Volkan
    Bagirova, Gulandam
    Poyrazoglu, Sukran
    Uyguner, Zehra Oya
    Darendeliler, Feyza
    HORMONE RESEARCH IN PAEDIATRICS, 2024, 97 (02): : 126 - 133
  • [28] ISOLATED GROWTH-HORMONE DEFICIENCY TYPE-1A DUE TO GH-N GENE DELETION IN A JAPANESE FAMILY
    NISHI, Y
    PHILLIPS, JA
    MIGEON, CJ
    ACTA PAEDIATRICA SCANDINAVICA, 1988, : 176 - 177
  • [29] 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
  • [30] Autosomal Dominant Growth Hormone Deficiency Due to a Novel c.178G>A Mutation in the GH1 Gene is Caused by Alternative Splicing to Produce a Small GH Isoform
    Pandey, Amit
    Miller, Bradley
    Rihs, Silvia
    Parween, Shaheena
    Ternand, Christine
    Gregory, Louise
    Dattani, Mehul
    FASEB JOURNAL, 2020, 34
12345