Carlsson L M, Attie K M, Compton P G, Vitangcol R V, Merimee T J
Genetech, Inc., South San Francisco, California 94080.
J Clin Endocrinol Metab. 1994 Jun;78(6):1325-30. doi: 10.1210/jcem.78.6.8200933.
One possible explanation for the growth failure in children with idiopathic short stature (ISS) is reduced peripheral responsiveness to GH. In Laron syndrome, growth retardation is caused by GH resistance due to GH receptor (GH-R) defects, which are associated in most cases with absent or low serum concentrations of the GH-R-related GH-binding protein (GHBP). We tested the hypothesis that some children with ISS have reduced serum concentrations of GHBP and that this may reflect decreased sensitivity to GH. A ligand-mediated immunofunctional assay was used to measure biochemically active GHBP in serum from 1549 children, including 773 controls, 573 with ISS, 107 with GH deficiency (GHD), and 96 with Turner syndrome (TS). Ages ranged from 1-17 yr. Serum GHBP concentrations in children with GHD, ISS, and TS were converted to SD scores and compared to controls by analysis of variance. In male and female ISS subjects, approximately 90% had GHBP concentrations below the age- and sex-adjusted mean for controls, and 20% had GHBP concentrations below the normal range. The mean serum GHBP SD score was lower in both males and females with GHD (-0.6) or ISS (-1.2) than in controls (both P < 0.005). The mean for ISS males was significantly lower than that for GHD males (P < 0.0001). The mean GHBP SD score for girls with TS (-0.3) did not differ significantly from that of the control females. The decreased levels of serum GHBP in some children with idiopathic short stature suggest that these children could have a defect at the level of the GH-R.
特发性身材矮小（ISS）儿童生长发育迟缓的一个可能解释是外周对生长激素（GH）的反应性降低。在拉伦综合征中，生长发育迟缓是由生长激素受体（GH-R）缺陷导致的GH抵抗引起的，在大多数情况下，这与血清中GH-R相关的生长激素结合蛋白（GHBP）浓度缺乏或降低有关。我们检验了这样一个假设，即一些ISS儿童血清中GHBP浓度降低，这可能反映了对GH的敏感性降低。采用配体介导的免疫功能测定法，对1549名儿童血清中的生物活性GHBP进行生化检测，这些儿童包括773名对照儿童、573名ISS儿童、107名生长激素缺乏（GHD）儿童和96名特纳综合征（TS）儿童。年龄范围为1至17岁。将GHD、ISS和TS儿童的血清GHBP浓度转换为标准差分数，并通过方差分析与对照儿童进行比较。在男性和女性ISS受试者中，约90%的人GHBP浓度低于按年龄和性别调整后的对照儿童均值，20%的人GHBP浓度低于正常范围。GHD男性和女性（-0.6）或ISS男性和女性（-1.2）的血清GHBP标准差分数均值均低于对照儿童（P均<0.005）。ISS男性的均值显著低于GHD男性（P<0.0001）。TS女孩的GHBP标准差分数均值（-0.3）与对照女性无显著差异。一些特发性身材矮小儿童血清GHBP水平降低表明，这些儿童可能在GH-R水平存在缺陷。
