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.
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.
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。
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