PDF(Pubmed)
Abstract：
Severe insulin resistance can be caused by rare genetic defects in the insulin receptor known as insulin receptoropathies. These genetic defects cause a wide spectrum of clinical manifestations ranging from mild syndromes to lethal disorders. Among those is the HAIR-AN an extreme subtype of polycystic ovary syndrome (PCOS). We present a case of a 29-year-old woman with amenorrhea, severe insulin resistance, hirsutism, and acanthosis nigricans who also developed endometrial cancer. She was found to carry a novel heterozygous nonsense mutation insulin receptor gene (INSR). The mutation was inherited from the mother. Levels of insulin receptor and AKT were measured using Western-Blot from peripheral blood mononuclear cells and were both decreased. Thus, we conclude that the identified mutation in the insulin receptor gene and lead to decreased activity of the downstream signaling of the insulin pathway.
摘要：
严重的胰岛素抵抗可由称为胰岛素受体病的胰岛素受体的罕见遗传缺陷引起。这些遗传缺陷引起广泛的临床表现，从轻度综合征到致命疾病。其中包括HAIR-AN，一种多囊卵巢综合征（PCOS）的极端亚型。我们介绍一例29岁女性闭经,严重的胰岛素抵抗，多毛症,和黑棘皮病也患上了子宫内膜癌。发现她携带一种新的杂合无义突变胰岛素受体基因（INSR）。突变是从母亲那里遗传的。使用Western-Blot从外周血单核细胞中测量胰岛素受体和AKT的水平，并且两者均降低。因此，我们得出的结论是，在胰岛素受体基因中发现的突变会导致胰岛素途径下游信号的活性降低。
