• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

原发性生长激素不敏感与精神运动发育迟缓。

Primary growth hormone insensitivity and psychomotor delay.

作者信息

Castilla-Cortazar Inma, De Ita Julieta Rodríguez, Aguirre Gabriel A, Rodríguez-Rivera Joel, García-Magariño Mariano, Martín-Estal Irene, Flores-Caloca Óscar, Diaz-Olachea Carlos

机构信息

Escuela de Medicina Tecnologico de Monterrey Monterrey Mexico.

Fundacion de Investigacion HM Hospitales Madrid Spain.

出版信息

Clin Case Rep. 2018 Jan 18;6(2):426-431. doi: 10.1002/ccr3.1349. eCollection 2018 Feb.

DOI:10.1002/ccr3.1349
PMID:29445490
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5799629/
Abstract

We report a case of short stature irresponsive to growth hormone (GH) replacement therapy. Low GH response to provocative tests and undetectable IGF-1 levels had suggested GH deficiency, while response to therapy indicated GH insensitivity. Molecular evaluation of the GH/IGF-1 axis should be performed in these cases to improve diagnosis and therapy.

摘要

我们报告一例身材矮小对生长激素（GH）替代治疗无反应的病例。对激发试验的GH反应低以及无法检测到的IGF-1水平提示GH缺乏，而对治疗的反应表明GH不敏感。在这些病例中应进行GH/IGF-1轴的分子评估，以改善诊断和治疗。

相似文献

1
Primary growth hormone insensitivity and psychomotor delay.原发性生长激素不敏感与精神运动发育迟缓。
Clin Case Rep. 2018 Jan 18;6(2):426-431. doi: 10.1002/ccr3.1349. eCollection 2018 Feb.
2
Short stature and decreased insulin-like growth factor I (IGF-I)/growth hormone (GH)-ratio in an adult GH-deficient patient pointing to additional partial GH insensitivity due to a R179C mutation of the growth hormone receptor.一名成年生长激素缺乏患者身材矮小且胰岛素样生长因子I（IGF-I）/生长激素（GH）比值降低，提示由于生长激素受体的R179C突变导致额外的部分生长激素不敏感。
Growth Horm IGF Res. 2007 Aug;17(4):307-14. doi: 10.1016/j.ghir.2007.03.001. Epub 2007 Apr 25.
3
Genetic disorders of GH action pathway.生长激素作用途径的遗传性疾病。
Growth Horm IGF Res. 2018 Feb;38:19-23. doi: 10.1016/j.ghir.2017.12.004. Epub 2017 Dec 12.
4
Genetic defects of the growth-hormone-IGF axis associated with growth hormone insensitivity.与生长激素不敏感相关的生长激素-胰岛素样生长因子轴的基因缺陷。
Endocr Dev. 2007;11:6-15. doi: 10.1159/000111053.
5
Insulin-like growth factor binding protein-3 generation: an index of growth hormone insensitivity.胰岛素样生长因子结合蛋白-3生成：生长激素不敏感的一个指标。
Pediatr Res. 1996 May;39(5):849-55. doi: 10.1203/00006450-199605000-00018.
6
IGFs and IGFBPs in GH insensitivity.生长激素不敏感中的胰岛素样生长因子及胰岛素样生长因子结合蛋白
Endocr Dev. 2005;9:100-106. doi: 10.1159/000085760.
7
Same Phenotype in Children with Growth Hormone Deficiency and Resistance.生长激素缺乏和抵抗儿童的相同表型
Case Rep Pediatr. 2018 Apr 15;2018:5902835. doi: 10.1155/2018/5902835. eCollection 2018.
8
Growth hormone insensitivity syndrome (Laron syndrome): main characteristics and effects of IGF1 treatment.生长激素不敏感综合征（拉龙综合征）：IGF1治疗的主要特征及效果
Diabetes Metab. 1996 Jul;22(4):251-6.
9
The effect of recombinant human insulin-like growth factor-I treatment on growth hormone secretion in two subjects with growth hormone insensitivity (Laron syndrome).重组人胰岛素样生长因子-I治疗对两名生长激素不敏感患者（拉伦综合征）生长激素分泌的影响。
Clin Endocrinol (Oxf). 1993 Jul;39(1):119-22. doi: 10.1111/j.1365-2265.1993.tb01761.x.
10
Evaluation of Safety and Efficacy of Growth Hormone Therapy by IGF-1 Z Score in Children with Short Stature.评估生长激素治疗对矮小儿童 IGF-1 Z 评分的安全性和疗效。
Adv Ther. 2019 Sep;36(9):2374-2383. doi: 10.1007/s12325-019-01021-5. Epub 2019 Jul 12.

本文引用的文献

1
Diagnosis of growth hormone deficiency in the paediatric and transitional age.儿童及过渡期生长激素缺乏症的诊断
Best Pract Res Clin Endocrinol Metab. 2016 Dec;30(6):737-747. doi: 10.1016/j.beem.2016.11.002. Epub 2016 Nov 4.
2
Partial IGF-1 deficiency induces brain oxidative damage and edema, which are ameliorated by replacement therapy.部分 IGF-1 缺乏会导致大脑氧化损伤和水肿，而替代治疗可以改善这种情况。
Biofactors. 2016 Jan-Feb;42(1):60-79. doi: 10.1002/biof.1255. Epub 2016 Feb 1.
3
Insulin-like growth factor-1 deficiency and metabolic syndrome.
胰岛素样生长因子-1缺乏与代谢综合征
J Transl Med. 2016 Jan 6;14:3. doi: 10.1186/s12967-015-0762-z.
4
Atypical defects resulting in growth hormone insensitivity.导致生长激素不敏感的非典型缺陷。
Growth Horm IGF Res. 2016 Jun;28:57-61. doi: 10.1016/j.ghir.2015.11.005. Epub 2015 Nov 30.
5
Fifty seven years of follow-up of the Israeli cohort of Laron Syndrome patients-From discovery to treatment.以色列拉龙综合征患者队列57年随访——从发现到治疗
Growth Horm IGF Res. 2016 Jun;28:53-6. doi: 10.1016/j.ghir.2015.08.004. Epub 2015 Aug 18.
6
A half-century of studies of growth hormone insensitivity/Laron syndrome: A historical perspective.生长激素不敏感/拉伦综合征的半个世纪研究：历史视角
Growth Horm IGF Res. 2016 Jun;28:46-50. doi: 10.1016/j.ghir.2015.08.001. Epub 2015 Aug 9.
7
Lessons learned from studies with the growth hormone receptor.从生长激素受体研究中获得的经验教训。
Growth Horm IGF Res. 2016 Jun;28:21-5. doi: 10.1016/j.ghir.2015.06.003. Epub 2015 Jun 3.
8
Controversies in the diagnosis and management of growth hormone deficiency in childhood and adolescence.儿童及青少年生长激素缺乏症诊断与管理中的争议
Arch Dis Child. 2016 Jan;101(1):96-100. doi: 10.1136/archdischild-2014-307228. Epub 2015 Jul 7.
9
Plasma insulin-like growth factor 1 is associated with cognitive impairment in Parkinson's disease.血浆胰岛素样生长因子1与帕金森病的认知障碍有关。
Dement Geriatr Cogn Disord. 2015;39(5-6):251-6. doi: 10.1159/000371510. Epub 2015 Jan 31.
10
Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation.对一组临床上被诊断为 GH 或 IGF1 不敏感的儿童进行遗传特征分析：血清 IGF1 和就诊时身高的诊断价值。
Eur J Endocrinol. 2015 Feb;172(2):151-61. doi: 10.1530/EJE-14-0541. Epub 2014 Nov 19.