Thyroid hormone in patients with insulin receptor mutations

National Institute Of Diabetes And Digestive And Kidney Diseases

Investigators

Linked publications, trials & patents

Abstract

7 patients have completed this study, including 2 with heterozygous mutations of the insulin receptor (Type A insulin resistance), and 5 with homozygous or compound heterozygous mutations (Rabson-Mendenhall syndrome). Preliminary analyses were presented at the American Thyroid Association annual meeting in 2017, and the final analyses are in progress. An ancillary analysis from this study of thyroid hormones measured by mass spectrometry versus immunoassay was presented at the Endocrine Society annual meeting in 2018, and a manuscript including these results is in preparation.