生长激素不敏感综合征：一种敏感方法。
Growth hormone insensitivity syndrome: A sensitive approach.
作者信息
Goswami Soumik, Ghosh Sujoy, Chowdhury Subhankar
机构信息
Department of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India.
出版信息
Indian J Endocrinol Metab. 2012 Sep;16(5):817-8. doi: 10.4103/2230-8210.100636.
Abstract
Patients with Growth Hormone Insensitivity have characteristic phenotypic features and severe short stature. The underlying basis are mutations in the growth hormone receptor gene which gives rise to a characteristic hormonal profile. Although a scoring system has been devised for the diagnosis of this disorder, it has not been indisputably validated. The massive expense incurred in the diagnosis and treatment of this condition with suboptimal therapeutic response necessitates a judicious approach in this regard in our country.
摘要
生长激素不敏感患者具有特征性的表型特征和严重身材矮小。其根本原因是生长激素受体基因突变，这导致了特征性的激素谱。尽管已经设计了一种评分系统用于诊断这种疾病，但尚未得到无可争议的验证。由于这种疾病的诊断和治疗费用高昂且治疗反应欠佳，在我国，对此需要采取明智的方法。
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本文引用的文献
1
The role of recombinant human insulin-like growth factor-I in treating children with short stature.
J Clin Endocrinol Metab. 2008 Jan;93(1):10-8. doi: 10.1210/jc.2007-1534. Epub 2007 Dec 28.
2
Long-term treatment with recombinant insulin-like growth factor (IGF)-I in children with severe IGF-I deficiency due to growth hormone insensitivity.
J Clin Endocrinol Metab. 2007 Mar;92(3):902-10. doi: 10.1210/jc.2006-1610. Epub 2006 Dec 27.
3
Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958-2003.
J Clin Endocrinol Metab. 2004 Mar;89(3):1031-44. doi: 10.1210/jc.2003-031033.
4
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency.
J Med Genet. 2003 Dec;40(12):913-7. doi: 10.1136/jmg.40.12.913.
5
The IGF-I generation test revisited: a marker of GH sensitivity.
J Clin Endocrinol Metab. 2001 Nov;86(11):5176-83. doi: 10.1210/jcem.86.11.8019.
6
Phenotype: genotype relationships in growth hormone insensitivity syndrome.
J Clin Endocrinol Metab. 1997 Nov;82(11):3529-35. doi: 10.1210/jcem.82.11.4389.
7
Genetic pituitary dwarfism with high serum concentation of growth hormone--a new inborn error of metabolism?
Isr J Med Sci. 1966 Mar-Apr;2(2):152-5.
8
Administration of growth hormone to patients with familial dwarfism with high plasma immunoreactive growth hormone: measurement of sulfation factor, metabolic and linear growth responses.
J Clin Endocrinol Metab. 1971 Aug;33(2):332-42. doi: 10.1210/jcem-33-2-332.
9
Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism).
Proc Natl Acad Sci U S A. 1987 Jul;84(13):4636-40. doi: 10.1073/pnas.84.13.4636.
10
Laron dwarfism and mutations of the growth hormone-receptor gene.
N Engl J Med. 1989 Oct 12;321(15):989-95. doi: 10.1056/NEJM198910123211501.
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