Laron Z, Klinger B, Eshet R, Kaneti H, Karasik A, Silbergeld A
Endocrinology and Diabetes Research Unit, Children's Medical Center of Israel, Petah Tikva.
Isr J Med Sci. 1993 Dec;29(12):757-63.
Three siblings with Laron syndrome (LS) and normal serum growth hormone binding protein (GHBP) are described. Basal serum levels of hGH were high and IGF-1 low, and in contradistinction to the classical form of the disease serum GHBP and IGFBP-3 were normal in these patients. After 7 days of human growth hormone administration serum IGFBP-3 levels as well as the number of red blood cell IGF receptor sites increased. After short- and long-term IGF-1 administration the IGF-1 receptor binding capacity as well as the number of IGF receptor sites decreased to levels found in control subjects. One year treatment with IGF-1 increased the growth velocity by 47-96% in the two older children. It is concluded that the findings described are compatible with a normal GH receptor and normal signal transmission for IGFBP-3 synthesis but a defect exists in the post-GH receptor mechanism for the generation of IGF-1. This is the first description of this type of defect leading to a variant of Laron syndrome.
本文描述了三名患有拉伦综合征（LS）且血清生长激素结合蛋白（GHBP）正常的兄弟姐妹。基础血清hGH水平较高而IGF-1水平较低，与该疾病的经典形式不同，这些患者的血清GHBP和IGFBP-3正常。给予人生长激素7天后，血清IGFBP-3水平以及红细胞IGF受体位点数量增加。短期和长期给予IGF-1后，IGF-1受体结合能力以及IGF受体位点数量降至对照组水平。用IGF-1治疗一年使两个较大儿童的生长速度提高了47%至96%。得出的结论是，所描述的发现与正常的GH受体以及用于IGFBP-3合成的正常信号转导相符，但在GH受体后生成IGF-1的机制中存在缺陷。这是对导致拉伦综合征一种变体的此类缺陷的首次描述。
