Saenger P
Division of Pediatric Endocrinology, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY 10467, USA.
Acta Paediatr Suppl. 1999 Feb;88(428):194-8. doi: 10.1111/j.1651-2227.1999.tb14390.x.
Heterozygous growth hormone receptor (GHR) gene defects are not a common cause of idiopathic short stature. Although some of these GHR mutations may result in relative insensitivity to growth hormone (GH) in other studies, obligate heterozygotes did not present any clinical manifestations. Although patients with GH insensitivity and elevated GH binding protein (GHBP) levels have been described, it may be a reasonable approach to screen children who have growth failure, low levels of insulin-like growth factor-I (IGF-I) and IGF-binding protein-3, and low levels of GHBP. Whether the sensitivity of this screening approach can be increased by administering pharmacological doses of GH for a few days and measuring the resultant increase in serum IGF-I concentration remains to be determined by ongoing studies.
杂合子生长激素受体（GHR）基因缺陷并非特发性身材矮小的常见病因。尽管在其他研究中，这些GHR突变中的一些可能导致对生长激素（GH）相对不敏感，但纯合子杂合子并未表现出任何临床表现。虽然已有关于GH不敏感且GH结合蛋白（GHBP）水平升高患者的描述，但对于生长发育迟缓、胰岛素样生长因子-I（IGF-I）和IGF结合蛋白-3水平低以及GHBP水平低的儿童进行筛查可能是一种合理的方法。通过给予药理剂量的GH数天并测量血清IGF-I浓度的相应增加，这种筛查方法的敏感性是否能够提高仍有待正在进行的研究所确定。
