Thyroid hormone in patients with insulin receptor mutations

National Institute Of Diabetes And Digestive And Kidney Diseases

Investigators

Linked publications & trials

Abstract

In the past fiscal year, this study initiated recruitment, and 7 patients have been enrolled, including 2 with heterozygous mutations of the insulin receptor (Type A insulin resistance), and 5 with homozygous or compound heterozygous mutations (Rabson-Mendenhall syndrome). 6 patients have completed the short-term proof-of principle study, and 4 of these are currently in the 6 month therapeutic study. Recruitment is ongoing, and data analyses have not yet been conducted. We plan to submit preliminary analyses for the Endocrine Society annual meeting in 2017.