Department of Pediatrics, Hallym University Kangdong Sacred Heart Hospital, Hallym University College of Medicine, Seoul, Korea.
J Pediatr Endocrinol Metab. 2021 Jan 26;34(2):255-259. doi: 10.1515/jpem-2020-0478. Print 2021 Feb 23.
Defects in the IGF-1 receptor gene () induce IGF-1 resistance, characterized by intrauterine and postnatal growth retardation, normal or elevated serum IGF-1 levels, and feeding problems. Obesity, idiopathic growth hormone deficiency (IGHD), bone age advancement, and serum IGF-1 level in the lower half of the reference range are very rare clinical features in patients with defects.
In this study, we report the atypical clinical manifestations of defects. Short stature girl born small for gestational age were initially diagnosed with IGHD. No catch-up growth was achieved despite sufficiently elevated IGF-1 levels after recombinant human growth hormone (rhGH) treatment. Single nucleotide polymorphism microarray analysis finally confirmed terminal deletion of 15q26.2q26.3 in the subject.
Intrauterine growth retardation, postnatal growth failure, and IGF-1 resistance during rhGH treatment are homologous features exhibited by affected patients, and may be predictive of defects.
胰岛素样生长因子 1 受体基因（）缺陷可导致 IGF-1 抵抗，其特征为宫内和产后生长迟缓、血清 IGF-1 水平正常或升高、以及喂养问题。肥胖、特发性生长激素缺乏症（IGHD）、骨龄提前以及 IGF-1 水平处于参考范围下半部分，这些都是患者中非常罕见的临床特征。
本研究报告了一例患者中 IGF-1 受体基因缺陷的非典型临床表现。一位身材矮小的女孩，出生时为小于胎龄儿，最初被诊断为 IGHD。尽管重组人生长激素（rhGH）治疗后 IGF-1 水平足够升高，但仍未实现追赶性生长。单核苷酸多态性微阵列分析最终证实该患者存在 15q26.2q26.3 端粒缺失。
rhGH 治疗期间的宫内生长迟缓、出生后生长失败和 IGF-1 抵抗是受影响患者表现出的同源特征，可能提示存在 IGF-1 受体基因缺陷。
