矮妖精貌综合征(Leprechaunism)是严重的遗传性胰岛素阻抗综合征,其特征为宫内和产后生长延迟、畸形脸、高胰岛素血症、葡萄糖体内平稳失调。此综合征属常染色体隐性遗传,并与胰岛素受体(IR)基因的等位基因突变相关联,是一种罕见疾病,在基因库中IR等位基因突变发生率约为1/2 000。 Leprechaunism is a severe hereditary insulin resistance syndrome characterized by delayed intrauterine and postpartum growth, deformity face, hyperinsulinemia, and stable glucose homeostasis. This syndrome is autosomal recessive and is associated with an allelic mutation of the insulin receptor (IR) gene and is a rare disease with an incidence of IR allele mutations in the gene pool of about 1/2 000 .