Bistritzer T, Chalew S A, Lovchik J C, Kowarski A A
Department of Pediatrics, University of Maryland School of Medicine, Baltimore 21201.
Lancet. 1988 Feb 13;1(8581):321-3. doi: 10.1016/s0140-6736(88)91118-x.
Growth hormone (GH) deficiency, diagnosed by radioimmunoassay (RIA) measurements of GH in blood after provocation or in continuous 24 h samples of venous blood, is usually associated with growth failure. 4 non-obese boys have been identified who had normal linear growth despite apparent GH deficiency by standard RIA. All 4 patients had normal GH concentrations as measured with an IM-9 cell radio-receptor assay (RRA). The RRA/RIA ratio of the 4 patients significantly exceeded that of controls. Thus, these patients secrete a molecule with normal GH receptor binding and bioactivity which is "invisible" to the standard GH RIA. This variant GH is possibly expressed from the human GH-V gene or a mutant allele.
生长激素(GH)缺乏症通常与生长发育迟缓相关,其诊断是通过激发后血液中GH的放射免疫测定(RIA)或连续24小时静脉血样本检测。已发现4名非肥胖男孩,尽管通过标准RIA检测显示明显的GH缺乏,但他们的线性生长正常。使用IM-9细胞放射受体测定(RRA)测量,所有4例患者的GH浓度均正常。这4例患者的RRA/RIA比值显著超过对照组。因此,这些患者分泌的一种分子具有正常的GH受体结合能力和生物活性,但对标准GH RIA检测“不可见”。这种变异的GH可能由人类GH-V基因或突变等位基因表达。