APHP, Hôpital Armand-Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France.
Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):181-90. doi: 10.1016/j.beem.2010.08.005.
The phenotype caused by human genetic insulin-like growth factor-I (IGF-I) defects is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit. This syndrome is extremely rare and only four cases have been reported. Addition clinical features may include microcephaly and later in life adiposity and insulin resistance. Partial gonadal dysfunction and osteoporosis may also be present. A case of partial IGF-I deficiency has recently been described and was associated with pre- and postnatal growth retardation and microcephaly but the developmental delay was mild and hearing tests were normal. IGF-I deficiency is transmitted as an autosomal recessive trait and is caused by homozygous mutations in the IGF1 gene. Currently these patients can benefit from recombinant IGF-I which is now available for treatment. These observations demonstrate that the integrity of IGF-I signalling is important for normal growth and brain development.
由人类遗传胰岛素样生长因子-I（IGF-I）缺陷引起的表型特征是宫内和产后生长迟缓与感觉神经性耳聋和智力缺陷有关。这种综合征极为罕见，仅有四起病例报告。其他可能的临床表现包括小头畸形，以及日后出现的肥胖和胰岛素抵抗。部分性腺功能障碍和骨质疏松症也可能存在。最近描述了一例 IGF-I 部分缺乏症，其与宫内和产后生长迟缓以及小头畸形有关，但发育迟缓较轻，听力测试正常。IGF-I 缺乏症呈常染色体隐性遗传特征，由 IGF1 基因突变纯合引起。目前，这些患者可以受益于重组 IGF-I 的治疗，目前该药物已可用于治疗。这些观察结果表明，IGF-I 信号的完整性对于正常的生长和大脑发育很重要。
