Abstract Introduction Insulin and leptin may increase growth and proliferation of thyroid cells, underlying an association between type 2 diabetes and papillary thyroid cancer (PTC). Patients with extreme insulin resistance due to lipodystrophy or insulin receptor mutations (INSR) are treated with high-dose insulin and recombinant leptin (metreleptin), which may increase risk of thyroid neoplasia. The aim of this study was to analyze thyroid structural abnormalities in patients with lipodystrophy and INSR mutation, and to assess if insulin, IGF-1, and metreleptin therapy contribute to the thyroid growth and neoplasia in this population. Materials and methods Thyroid ultrasound characteristics were analyzed in 81 patients with lipodystrophy and 11 with INSR (5 homozygous; 6 heterozygous). Sixty were taking metreleptin. Results The prevalence of thyroid nodules in children with extreme insulin resistance (5/30, 16.7%) was significantly higher than published prevalence for children (64/3202; 2%), with no difference between lipodystrophy and INSR. BSA-adjusted thyroid volume was larger in INSR homozygotes versus heterozygotes or lipodystrophy (10.4±5.1, 3.9±1.5, 6.2±3.4 cm2, respectively. Three patients with lipodystrophy and one INSR heterozygote had PTC. There were no differences in thyroid ultrasound features in patients treated versus untreated with metreleptin. Conclusion Children with extreme insulin resistance had high prevalence of thyroid nodules, which were not associated with metreleptin treatment. Patients with homozygous INSR mutation had thyromegaly, which may be a novel phenotypic feature of this disease. Further studies are needed to determine the etiology of thyroid abnormalities in patients with extreme insulin resistance. This content is only available as a PDF. Copyright © 2019 Endocrine Society
Journal of Clinical Endocrinology and Metabolism – Oxford University Press
Published: Jan 16, 2019
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