斯洛文尼亚诊断出一例拉伦综合征。

C Krzisnik, A Silbergeld, Z Laron
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引用次数: 4

摘要

我们报告的第一例Laron综合征(LS)诊断在斯洛文尼亚。这名男孩的父母来自斯洛文尼亚,没有血缘关系,身高正常,但自出生以来,他的生长和运动发育缓慢。在4岁和6岁时,他出现了LS的所有特征症状,与生长激素缺乏症(GHD)相同。实验室检查显示低血糖,血浆hGH明显升高,血清胰岛素样生长因子-1 (IGF-1)低,外源性hGH后不升高,血清生长激素结合蛋白(GHBP)低。外祖父的一个妹妹个子不高(145厘米),血清GHBP低于正常水平,这与该病的杂合性相符。
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A case of Laron syndrome diagnosed in Slovenia.

We report the first case of Laron syndrome (LS) diagnosed in Slovenia. The boy, a product of non-consanguineous Slovenian parents of normal height, presented with slow growth and motor development since birth. At age 4 and 6 years, he had all the characteristic signs of LS, identical to those in growth hormone deficiency (GHD). Laboratory tests showed hypoglycemia, markedly elevated plasma hGH, low serum insulin-like growth factor-1 (IGF-1) with no rise after exogenous hGH, and low serum growth hormone binding protein (GHBP). A sister of the maternal grandfather is short (145 cm) and was found to have below normal serum GHBP, findings compatible with heterozygocity for this disorder.

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