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首页> 外文期刊>Clinical Chemistry: Journal of the American Association for Clinical Chemists >The Serum Growth Hormone (GH) Response to Provocative Tests Is Dependent on Type of Assay in Autosomal Dominant Isolated GH Deficiency because of an ARG183HIS (R183H) GH-I Gene Mutation
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The Serum Growth Hormone (GH) Response to Provocative Tests Is Dependent on Type of Assay in Autosomal Dominant Isolated GH Deficiency because of an ARG183HIS (R183H) GH-I Gene Mutation

机译：激发试验的血清生长激素（GH）反应取决于ARG183HIS（R183H）GH-I基因突变导致的常染色体显性遗传性GH缺乏症的检测类型

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The clinical appearance and genetic basis of familial isolated growth hormone deficiency (IGHD) are heterogeneous and are associated with at least four types of Mendelian disorders: two forms with autosomal recessive inheritance (IGHD type 1A and 1B), one with autosomal dominant inheritance (IGHD type 2), and one with X-linked inheritance (IGHD type 3) (1)(2).Recently, Delado?y et al. (3) reported a new form of IGHD type 2 in four unrelated families. These patients carried an ARG183HIS (R183H) GH-1 mutation. On the basis of in vivo and in vitro experiments, the authors reported that the R183H mutant GH peptide severely impaired GH-regulated secretion. Furthermore, this GH mutant was found to have an effect on GH receptor/GH-binding protein (GHR/GHBP) transcription identical to that of the 22-kDa GH when tested in a human hepatoma cell line (4).Human GH represents a family of proteins rather than a single hormone. Indeed, GH is among the more heterogeneous polypeptide hormones, and the proportions of immunoreactive forms in plasma vary with time after a GH secretory pulse (5). The simultaneous use of an immunoassay that detects most serum GH isoforms (total GH) and one specific for the 22-kDa GH form makes it possible to uncover changes in the pattern of secretion of GH isoforms. Moreover, discrepancies between GH immunologic and biological activities have been reported (6). It has therefore been proposed that the ratio of non-22-kDa GH to 22-kDa GH isoforms may have important implications for normal and abnormal growth (7).We studied two nonrelated patients from Argentina with severe short stature and IGHD type 2 attributable to the R183H GH-1 gene mutation and found that the evaluation of GH response to provocative tests might be misleading in these patients, depending on the type of assay used to assess …
机译：家族性孤立生长激素缺乏症（IGHD）的临床表现和遗传基础是异质的，并且至少与四种孟德尔疾病有关：两种具有常染色体隐性遗传（IGHD 1A和1B型），一种具有常染色体显性遗传（IGHD）类型2）和具有X连锁继承的类型（IGHD类型3）（1）（2）。 （3）报告了四个无关家族中新的IGHD 2型。这些患者携带了ARG183HIS（R183H）GH-1突变。在体内和体外实验的基础上，作者报道了R183H突变型GH肽严重损害了GH调节的分泌。此外，发现该GH突变体对GH受体/ GH结合蛋白（GHR / GHBP）的转录作用与在人肝癌细胞系（4）中进行测试时的22 kDa GH相同（4）。而不是单一激素的蛋白质家族。实际上，GH是异质性更强的多肽激素之一，GH分泌脉冲后血浆中免疫反应形式的比例随时间而变化（5）。同时使用一种检测大多数血清GH同工型（总GH）和一种针对22-kDa GH特异的免疫测定方法，可以发现GH同工型分泌模式的变化。此外，已经报道了GH免疫和生物学活性之间的差异（6）。因此，有人提出，非22 kDa GH与22 kDa GH同工型的比率可能对正常和异常生长具有重要影响（7）。我们研究了两名来自阿根廷的非相关患者，这些患者身材矮小且患有IGHD 2型对R183H GH-1基因突变的研究，发现这些患者对刺激性试验的GH反应评估可能会产生误导，具体取决于用于评估…

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