Summary
A 17-year-old boy was referred to our endocrinology clinic for a clinical investigation of hyperinsulinemia. An oral glucose tolerance test showed plasma glucose concentrations in the normal range. However, insulin concentrations were considerably elevated (0 min: 71 μU/mL; 60 min: 953 μU/mL), suggesting severe insulin resistance. An insulin tolerance test confirmed that he had insulin resistance. There was no apparent hormonal or metabolic cause, including obesity. The patient had no outward features of hyperinsulinemia, including acanthosis nigricans or hirsutism. However, his mother and grandfather also had hyperinsulinemia. Genetic testing showed that the patient (proband), his mother, and his grandfather had a novel p.Val1086del heterozygous mutation in exon 17 of the insulin receptor gene (INSR). Although all three family members have the same mutation, their clinical courses have been different. The onset of the mother’s diabetes was estimated at 50 years, whereas the grandfather developed diabetes at 77 years.
Learning points
Type A insulin resistance syndrome is caused by mutations in the insulin receptor (INSR) gene and results in severe insulin resistance.
Genetic evaluation should be considered in adolescents or young adults with dysglycemia when an atypical phenotype, such as severe insulin resistance, or a relevant family history is observed.
Clinical courses may differ even if the same genetic mutation is found in a family.
Excitation of upper hybrid waves associated with the ionospheric heating experiments is assumed to be essential in explaining some of the features of stimulated electromagnetic emissions (SEE). A direct conversion process is proposed as an excitation mechanism of the upper hybrid waves where the energy of an obliquely propagating electromagnetic pump wave is converted into the electrostatic upper hybrid waves due to small-scale density irregularities. We performed electromagnetic particle-in-cell simulations to investigate the energy conversion process in the ionospheric heating experiments. We studied dependence of the amplitude of the excited wave on the propagation angle of the pump wave, scale length of the density irregularity, degree of the irregularity, and thermal velocity of the plasma. The maximum amplitude is found to be 37% of the pump amplitude under an optimum condition.
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