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[生长激素或促生长激素:巴西伊塔巴亚宁哈县个体生长激素释放激素受体基因突变描述后孤立性生长激素缺乏症的新观点]

[Growth or somatotrophic hormone: new perspectives in isolated GH deficiency after description of the mutation in the GHRH receptor gene in individuals of Itabaianinha County, Brazil].

作者信息

Souza Anita Hermínia O, Salvatori Roberto, Martinelli Carlos E, Carvalho Walter M O, Menezes Carlos A, Barretto Elenilde S de A, Barreto Filho José A S, Alcântara Marta R S de, Oliveira Carla R P, Alcântara Paula R S de, Ramalho Roberto J R, Oliveira Hélio A, Lima Ivana B de, Carneiro Jamille N, Santos Marcos M, Gill Matthew S, Clayton Peter E, Oliveira Manuel H A

机构信息

Serviço de Endocrinologia, Hospital Universitário, Universidade Federal de Sergipe, Aracaju, SE.

出版信息

Arq Bras Endocrinol Metabol. 2004 Jun;48(3):406-13. doi: 10.1590/s0004-27302004000300013. Epub 2004 Aug 26.

DOI:10.1590/s0004-27302004000300013
PMID:15640904
Abstract

In addition to stimulating body growth, growth or somatotrophic hormone plays an important role in metabolism, body composition, lipid profile, cardiovascular status and longevity. Its control is multiregulated by hormones, metabolites and hypothalamic peptides. Obtained data of the isolated growth hormone deficiency (IGHD) after the description of the IVS1+1G-->A GHRH receptor gene mutation in individuals of Itabaianinha County are reviewed. New perspectives about the growth hormone resistance model, the importance of GHRH in the control of GH secretion, the frequency of GHRH-R gene mutations, the diagnostic relevance of IGF-I and the metabolic, cardiovascular and quality of life findings are approached.

摘要

除了刺激身体生长外,生长激素或促生长激素在新陈代谢、身体组成、血脂状况、心血管状态和寿命方面也发挥着重要作用。其调控受到激素、代谢物和下丘脑肽的多重调节。本文回顾了伊塔巴亚尼尼亚县个体中IVS1+1G→A GHRH受体基因突变被描述后所获得的孤立性生长激素缺乏症(IGHD)的数据。探讨了关于生长激素抵抗模型、GHRH在生长激素分泌控制中的重要性、GHRH-R基因突变频率、IGF-I的诊断相关性以及代谢、心血管和生活质量研究结果的新观点。

相似文献

1
[Growth or somatotrophic hormone: new perspectives in isolated GH deficiency after description of the mutation in the GHRH receptor gene in individuals of Itabaianinha County, Brazil].[生长激素或促生长激素:巴西伊塔巴亚宁哈县个体生长激素释放激素受体基因突变描述后孤立性生长激素缺乏症的新观点]
Arq Bras Endocrinol Metabol. 2004 Jun;48(3):406-13. doi: 10.1590/s0004-27302004000300013. Epub 2004 Aug 26.
2
Familial growth hormone deficiency with mutated GHRH receptor gene: clinical and hormonal findings in homozygous and heterozygous individuals from Itabaianinha.伴有生长激素释放激素(GHRH)受体基因突变的家族性生长激素缺乏症:来自伊塔巴亚尼尼亚的纯合子和杂合子个体的临床及激素表现
Eur J Endocrinol. 2000 Jun;142(6):557-63. doi: 10.1530/eje.0.1420557.
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Isolated growth hormone (GH) deficiency due to compound heterozygosity for two new mutations in the GH-releasing hormone receptor gene.由于生长激素释放激素受体基因中的两个新突变导致的复合杂合性引起的孤立性生长激素缺乏症。
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Hypothalamic abnormalities: Growth failure due to defects of the GHRH receptor.下丘脑异常:由于生长激素释放激素(GHRH)受体缺陷导致生长发育迟缓。
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Disruption of the GHRH receptor and its impact on children and adults: The Itabaianinha syndrome.生长激素释放激素受体缺失及其对儿童和成人的影响:伊塔巴亚尼纳综合征。
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Hypothalamic/pituitary-axis of the spontaneous dwarf rat: autofeedback regulation of growth hormone (GH) includes suppression of GH releasing-hormone receptor messenger ribonucleic acid.自发性侏儒大鼠的下丘脑/垂体轴:生长激素(GH)的自动反馈调节包括对生长激素释放激素受体信使核糖核酸的抑制。
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A mouse with targeted ablation of the growth hormone-releasing hormone gene: a new model of isolated growth hormone deficiency.生长激素释放激素基因靶向消融的小鼠:孤立性生长激素缺乏的新模型。
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Metabolic effects of growth hormone (GH) replacement in children and adolescents with severe isolated GH deficiency due to a GHRH receptor mutation.生长激素释放激素(GHRH)受体突变导致严重孤立性生长激素(GH)缺乏的儿童和青少年中GH替代治疗的代谢效应。
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Heterozygosity for a mutation in the growth hormone-releasing hormone receptor gene does not influence adult stature, but affects body composition.生长激素释放激素受体基因突变的杂合性不影响成人身高,但会影响身体组成。
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引用本文的文献

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The state of Sergipe contribution to GH research: from Souza Leite to Itabaianinha syndrome.塞尔希培州对 GH 研究的贡献:从苏扎莱伊特到伊塔巴因哈综合征。
Arch Endocrinol Metab. 2022 Nov 17;66(6):919-928. doi: 10.20945/2359-3997000000567.
2
Disruption of the GHRH receptor and its impact on children and adults: The Itabaianinha syndrome.生长激素释放激素受体缺失及其对儿童和成人的影响:伊塔巴亚尼纳综合征。
Rev Endocr Metab Disord. 2021 Mar;22(1):81-89. doi: 10.1007/s11154-020-09591-4. Epub 2020 Sep 16.
3
Macrophages From Subjects With Isolated GH/IGF-I Deficiency Due to a GHRH Receptor Gene Mutation Are Less Prone to Infection by .
因 GHRH 受体基因突变导致孤立性 GH/IGF-I 缺乏症患者的巨噬细胞更不易受感染。
Front Cell Infect Microbiol. 2019 Aug 30;9:311. doi: 10.3389/fcimb.2019.00311. eCollection 2019.
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Subjects with isolated GH deficiency due to a null GHRHR mutation eat proportionally more, but healthier than controls.由于生长激素释放激素受体(GHRHR)无效突变而导致孤立性生长激素缺乏的受试者,其饮食比例比对照组更高,但比对照组更健康。
Endocrine. 2016 Feb;51(2):317-22. doi: 10.1007/s12020-015-0670-2. Epub 2015 Jun 23.
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Sizes of abdominal organs in adults with severe short stature due to severe, untreated, congenital GH deficiency caused by a homozygous mutation in the GHRH receptor gene.因生长激素释放激素(GHRH)受体基因纯合突变导致严重、未经治疗的先天性生长激素缺乏症而身材严重矮小的成年人腹部器官大小。
Clin Endocrinol (Oxf). 2008 Jul;69(1):153-8. doi: 10.1111/j.1365-2265.2007.03148.x. Epub 2008 Jul 1.