Leprechaunism

インスリンレセプター異常による著明なインスリン抵抗性を示した女児例

抄録

This report describes a 3-month-old female infant with the typical physical features of leprechaunism. The patient demonstrated glucose intolerance and marked hyperinsulinemia (4600μU/ml). Since an intravenous insulin injection (actrapid insulin : 0.15U/kg) caused no significant decrease in the blood glucose level, the presence of insulin resistance was suggested. Neither insulin antibodies nor insulin receptor antibodies were found in the patient's plasma, and other circulating insulin antagonists such as glucagon, growth hormone, 1. and cortisol were within normal limits. [¹²⁵ I] Insulin binding to the erythrocytes from the patient was as low as 1.02% (control infants : 4.89± 1.08% [mean±SD]). [¹²⁵I] Insulin binding to the cultured transformed lymphocytes from the patient was similarly reduced to 3.58% (control : 20.9±2.71% [mean±SD]). From these findings we concluded that the insulin resistance was due to a primary defect in insulin receptors.
Interestingly, transient remissions of the patient's glucose intolerance and hyperinsulinemia were observed during a year of follow-up study. The insulin tolerance test which was performed at the remission period showed an improvement in insulin resistance. However, the insulin binding defect to erythrocytes remained unchanged even at the remission period. The exact cause of these remissions was not clear and remained to be elucidated.